VCV000024901.27 - ClinVar

NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)

Germline

Classification

criteria provided, multiple submitters, no conflicts. Learn more about how ClinVar calculates review status.

Pathogenic
Pathogenic (7)

7 out of 7 submissions contributed to this classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)

Variation ID: 24901 Accession: VCV000024901.27

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 10q11.21 10: 43113649 (GRCh38) [ NCBI UCSC ] 10: 43609097 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Mar 8, 2017	May 30, 2026	Dec 23, 2025

HGVS

Nucleotide	Protein	Molecular consequence
NM_020975.6:c.1853G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_066124.1:p.Cys618Tyr	missense
NM_000323.2:c.1853G>A	NP_000314.1:p.Cys618Tyr	missense
NM_001355216.2:c.1091G>A	NP_001342145.1:p.Cys364Tyr	missense
NM_001406743.1:c.1853G>A	NP_001393672.1:p.Cys618Tyr	missense
NM_001406744.1:c.1853G>A	NP_001393673.1:p.Cys618Tyr	missense
NM_001406759.1:c.1853G>A	NP_001393688.1:p.Cys618Tyr	missense
NM_001406760.1:c.1853G>A	NP_001393689.1:p.Cys618Tyr	missense
NM_001406761.1:c.1724G>A	NP_001393690.1:p.Cys575Tyr	missense
NM_001406762.1:c.1724G>A	NP_001393691.1:p.Cys575Tyr	missense
NM_001406763.1:c.1853G>A	NP_001393692.1:p.Cys618Tyr	missense
NM_001406764.1:c.1724G>A	NP_001393693.1:p.Cys575Tyr	missense
NM_001406765.1:c.1853G>A	NP_001393694.1:p.Cys618Tyr	missense
NM_001406766.1:c.1565G>A	NP_001393695.1:p.Cys522Tyr	missense
NM_001406767.1:c.1565G>A	NP_001393696.1:p.Cys522Tyr	missense
NM_001406768.1:c.1724G>A	NP_001393697.1:p.Cys575Tyr	missense
NM_001406769.1:c.1457G>A	NP_001393698.1:p.Cys486Tyr	missense
NM_001406770.1:c.1565G>A	NP_001393699.1:p.Cys522Tyr	missense
NM_001406771.1:c.1415G>A	NP_001393700.1:p.Cys472Tyr	missense
NM_001406772.1:c.1457G>A	NP_001393701.1:p.Cys486Tyr	missense
NM_001406773.1:c.1415G>A	NP_001393702.1:p.Cys472Tyr	missense
NM_001406774.1:c.1328G>A	NP_001393703.1:p.Cys443Tyr	missense
NM_001406775.1:c.1127G>A	NP_001393704.1:p.Cys376Tyr	missense
NM_001406776.1:c.1127G>A	NP_001393705.1:p.Cys376Tyr	missense
NM_001406777.1:c.1127G>A	NP_001393706.1:p.Cys376Tyr	missense
NM_001406778.1:c.1127G>A	NP_001393707.1:p.Cys376Tyr	missense
NM_001406779.1:c.956G>A	NP_001393708.1:p.Cys319Tyr	missense
NM_001406780.1:c.956G>A	NP_001393709.1:p.Cys319Tyr	missense
NM_001406781.1:c.956G>A	NP_001393710.1:p.Cys319Tyr	missense
NM_001406782.1:c.956G>A	NP_001393711.1:p.Cys319Tyr	missense
NM_001406783.1:c.827G>A	NP_001393712.1:p.Cys276Tyr	missense
NM_001406784.1:c.863G>A	NP_001393713.1:p.Cys288Tyr	missense
NM_001406786.1:c.827G>A	NP_001393715.1:p.Cys276Tyr	missense
NM_001406787.1:c.956G>A	NP_001393716.1:p.Cys319Tyr	missense
NM_001406788.1:c.668G>A	NP_001393717.1:p.Cys223Tyr	missense
NM_001406789.1:c.668G>A	NP_001393718.1:p.Cys223Tyr	missense
NM_001406790.1:c.668G>A	NP_001393719.1:p.Cys223Tyr	missense
NM_001406792.1:c.404G>A	NP_001393721.1:p.Cys135Tyr	missense
NM_001406793.1:c.404G>A	NP_001393722.1:p.Cys135Tyr	missense
NM_001406794.1:c.404G>A	NP_001393723.1:p.Cys135Tyr	missense
NM_020629.2:c.1853G>A	NP_065680.1:p.Cys618Tyr	missense
NM_020630.7:c.1853G>A	NP_065681.1:p.Cys618Tyr	missense
NC_000010.11:g.43113649G>A
NC_000010.10:g.43609097G>A
NG_007489.1:g.41581G>A
LRG_518:g.41581G>A
LRG_518t1:c.1853G>A	LRG_518p1:p.Cys618Tyr
LRG_518t2:c.1853G>A	LRG_518p2:p.Cys618Tyr
	P07949:p.Cys618Tyr

... more HGVS ... less HGVS

Protein change

C364Y, C223Y, C288Y, C522Y, C135Y, C276Y, C443Y, C472Y, C486Y, C575Y, C319Y, C376Y

Other names

Canonical SPDI

NC_000010.11:43113648:G:A

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Trans-Omics for Precision Medicine (TOPMed) 0.00001

Links

ClinGen: CA008005 UniProtKB: P07949#VAR_006314 dbSNP: rs79781594 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
RET		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	4288	4424

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Hereditary cancer-predisposing syndrome	Pathogenic (1)	criteria provided, single submitter	Mar 12, 2024	RCV000163667.7
Multiple endocrine neoplasia, type 2	Pathogenic (2)	criteria provided, multiple submitters, no conflicts	May 21, 2024	RCV000475953.17
not provided	Pathogenic (3)	criteria provided, multiple submitters, no conflicts	Dec 23, 2025	RCV001565486.8
Multiple endocrine neoplasia type 2A	Pathogenic (1)	criteria provided, single submitter	May 6, 2025	RCV005409607.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	Expand all rows Collapse all rows Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Pathogenic (Mar 12, 2024) C Contributing to aggregate classification	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Hereditary cancer-predisposing syndrome	Ambry Genetics Accession: SCV000214239.7 First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024	Publications: PubMed (4) PubMed: 18063059‚ 19469690‚ 25628771‚ 8918855 Comment: show The p.C618Y pathogenic mutation (also known as c.1853G>A), located in coding exon 10 of the RET gene, results from a G to A substitution at nucleotide position 1853. The cysteine at codon 618 is replaced by tyrosine, an amino acid with highly dissimilar properties. This variant has been reported in multiple individuals diagnosed with medullary thyroid carcinoma (MTC) and/or MEN2A (Frank-Raue K et al. Hum Mutat. 2011 Jan;32(1):51-8; Landsvater RM et al. Hum Genet. 1996 Jan;97(1):11-4; Quayle FJ et al. Surgery 2007 Dec;142(6):800-5; discussion 805.e1; Zhao JQ et al. Hered Cancer Clin Pract. 2015 Jan;13(1):5). In addition, several other missense alterations that change the cysteine at codon 618 have been reported in the literature as disease-causing mutations (Landsvater RM et al. Hum Genet. 1996 Jan;97(1):11-4). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). The American Thyroid Association categorizes alterations to the C618 residue, including p.C618Y, in the B-level risk group and has made mutation specific guidelines available (Kloos RT et al. Thyroid 2009 Jun; 19(6):565-612). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (May 06, 2025) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Multiple endocrine neoplasia type 2A	Clinical Genetics Laboratory, Skane University Hospital Lund Accession: SCV006074634.1 First in ClinVar: May 15, 2025 Last updated: May 15, 2025	Comment: show PS3, PS4, PM2, PM5, PP3 (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (May 21, 2024) C Contributing to aggregate classification	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Multiple endocrine neoplasia, type 2	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000543836.12 First in ClinVar: Apr 17, 2017 Last updated: Feb 15, 2026	Publications: PubMed (14) PubMed: 20516206‚ 20979234‚ 21765987‚ 22068382‚ 25628771‚ 7824936‚ 7915165‚ 8103403‚ 9174404‚ 9230192‚ 9384613‚ 9498388‚ 9839497‚ 9879991 Comment: show This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 618 of the RET protein (p.Cys618Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with multiple endocrine neoplasia type 2A and familial medullary thyroid cancer (PMID: 8103403, 20516206, 21765987, 25628771). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 24901). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects RET function (PMID: 7824936, 9174404, 9230192, 9879991). This variant disrupts the p.Cys618 amino acid residue in RET. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7915165, 9384613, 9498388, 9839497, 20979234, 22068382; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Jan 07, 2021) C Contributing to aggregate classification	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Multiple endocrine neoplasia, type 2	Women's Health and Genetics/Laboratory Corporation of America, LabCorp Accession: SCV001478765.1 First in ClinVar: Feb 13, 2021 Last updated: Feb 13, 2021	Publications: PubMed (7) PubMed: 7608256‚ 8103403‚ 8556059‚ 8557249‚ 9067749‚ 9230192‚ 9699127 Comment: show Variant summary: RET c.1853G>A (p.Cys618Tyr) results in a non-conservative amino acid change located at a critical residue within the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 249080 control chromosomes. c.1853G>A has been widely reported in the literature in multiple individuals affected with Multiple Endocrine Neoplasia Type 2/Familial Medullary Thyroid Carcinoma and subsequently cited by others (example, Donis-Keller_1993, Chiefari_1998, Beldjord_1995, Kimura_1995, Landsvater_1996). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in transforming activity of the RET proto-oncogene and reduced cell surface expression suggesting the potential to develop Hirschsprung's disease in addition to MEN 2A and FMTC (Ito_1997). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic citing overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Dec 23, 2025) C Contributing to aggregate classification	criteria provided, single submitter (DASA Assertion Criteria)	not provided	Dasa Accession: SCV007598959.1 First in ClinVar: May 30, 2026 Last updated: May 30, 2026	Publications: PubMed (9) PubMed: 19469690‚ 20516206‚ 21765987‚ 25628771‚ 7824936‚ 8103403‚ 9174404‚ 9230192‚ 9879991 Comment: show NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) is a missense variant that results in the substitution of cysteine with tyrosine. The affected residue or protein region has prior evidence supporting clinical relevance. Segregation evidence has been reported in affected families. This variant has been recurrently observed in individuals with related phenotype (PMID: 8103403; PMID: 19469690; PMID: 25628771; PMID: 7824936; PMID: 9174404). Multiple computational predictions support a deleterious effect on the gene or gene product. The variant is present at low frequency in population datasets. Based on the available data, this variant is classified as pathogenic. (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Pathogenic (Nov 30, 2023) C Contributing to aggregate classification	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	not provided	GeneDx Accession: SCV001788840.2 First in ClinVar: Aug 21, 2021 Last updated: Sep 16, 2024	Comment: show Published functional studies demonstrate a damaging effect: increased transforming activity and homodimer formation (PMID: 9230192); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 9879991, 9498388, 20979234, 23660264, 9839497, 8918855, 10490816, 7824936, 9174404, 19469690, 9384613, 7915165, 22068382, 26343386, 9699127, 7608256, 22747440, 8103403, 18063059, 20516206, 21765987, 11230481, 9761126, 31510104, 14633923, 29020875, 30666164, 26582918, 35053433, 37046785, 33827484, 32665702, 25628771, 9230192) (less) Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: yes Observation 1 Collection method: clinical testing Allele origin: germline Affected status: yes

Pathogenic (Mar 04, 2025) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	not provided	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital Accession: SCV004027570.2 First in ClinVar: Aug 19, 2023 Last updated: Mar 11, 2025	Publications: PubMed (2) PubMed: 20979234‚ 33827484 Observation: 1 Collection method: clinical testing Allele origin: germline Affected status: unknown Observation 1 Collection method: clinical testing Allele origin: germline Affected status: unknown

Comment:

The p.C618Y pathogenic mutation (also known as c.1853G>A), located in coding exon 10 of the RET gene, results from a G to A substitution at nucleotide position 1853. The cysteine at codon 618 is replaced by tyrosine, an amino acid with highly dissimilar properties. This variant has been reported in multiple individuals diagnosed with medullary thyroid carcinoma (MTC) and/or MEN2A (Frank-Raue K et al. Hum Mutat. 2011 Jan;32(1):51-8; Landsvater RM et al. Hum Genet. 1996 Jan;97(1):11-4; Quayle FJ et al. Surgery 2007 Dec;142(6):800-5; discussion 805.e1; Zhao JQ et al. Hered Cancer Clin Pract. 2015 Jan;13(1):5). In addition, several other missense alterations that change the cysteine at codon 618 have been reported in the literature as disease-causing mutations (Landsvater RM et al. Hum Genet. 1996 Jan;97(1):11-4). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). The American Thyroid Association categorizes alterations to the C618 residue, including p.C618Y, in the B-level risk group and has made mutation specific guidelines available (Kloos RT et al. Thyroid 2009 Jun; 19(6):565-612). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

Comment:

This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 618 of the RET protein (p.Cys618Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with multiple endocrine neoplasia type 2A and familial medullary thyroid cancer (PMID: 8103403, 20516206, 21765987, 25628771). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 24901). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects RET function (PMID: 7824936, 9174404, 9230192, 9879991). This variant disrupts the p.Cys618 amino acid residue in RET. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 7915165, 9384613, 9498388, 9839497, 20979234, 22068382; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

Comment:

Variant summary: RET c.1853G>A (p.Cys618Tyr) results in a non-conservative amino acid change located at a critical residue within the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 249080 control chromosomes. c.1853G>A has been widely reported in the literature in multiple individuals affected with Multiple Endocrine Neoplasia Type 2/Familial Medullary Thyroid Carcinoma and subsequently cited by others (example, Donis-Keller_1993, Chiefari_1998, Beldjord_1995, Kimura_1995, Landsvater_1996). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in transforming activity of the RET proto-oncogene and reduced cell surface expression suggesting the potential to develop Hirschsprung's disease in addition to MEN 2A and FMTC (Ito_1997). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic citing overlapping evidence utilized in the context of this evaluation. Based on the evidence outlined above, the variant was classified as pathogenic.

Comment:

NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) is a missense variant that results in the substitution of cysteine with tyrosine. The affected residue or protein region has prior evidence supporting clinical relevance. Segregation evidence has been reported in affected families. This variant has been recurrently observed in individuals with related phenotype (PMID: 8103403; PMID: 19469690; PMID: 25628771; PMID: 7824936; PMID: 9174404). Multiple computational predictions support a deleterious effect on the gene or gene product. The variant is present at low frequency in population datasets. Based on the available data, this variant is classified as pathogenic.

Comment:

Published functional studies demonstrate a damaging effect: increased transforming activity and homodimer formation (PMID: 9230192); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 9879991, 9498388, 20979234, 23660264, 9839497, 8918855, 10490816, 7824936, 9174404, 19469690, 9384613, 7915165, 22068382, 26343386, 9699127, 7608256, 22747440, 8103403, 18063059, 20516206, 21765987, 11230481, 9761126, 31510104, 14633923, 29020875, 30666164, 26582918, 35053433, 37046785, 33827484, 32665702, 25628771, 9230192)

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.	Qi XP	BMC cancer	2021	PMID: 33827484
Molecular diagnosis and comprehensive treatment of multiple endocrine neoplasia type 2 in Southeastern Chinese.	Zhao JQ	Hereditary cancer in clinical practice	2015	PMID: 25628771
Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma.	Qi XP	Familial cancer	2012	PMID: 22068382
Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma.	Hedayati M	Journal of thyroid research	2011	PMID: 21765987
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.	Frank-Raue K	Human mutation	2011	PMID: 20979234
Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.	Romei C	European journal of endocrinology	2010	PMID: 20516206
Medullary thyroid cancer: management guidelines of the American Thyroid Association.	American Thyroid Association Guidelines Task Force	Thyroid : official journal of the American Thyroid Association	2009	PMID: 19469690
Pheochromocytoma penetrance varies by RET mutation in MEN 2A.	Quayle FJ	Surgery	2007	PMID: 18063059
Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.	Chappuis-Flament S	Oncogene	1998	PMID: 9879991
Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.	Egawa S	Japanese journal of clinical oncology	1998	PMID: 9839497
Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma.	Chiefari E	Journal of endocrinological investigation	1998	PMID: 9699127
Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene.	Decker RA	Journal of pediatric surgery	1998	PMID: 9498388
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation.	Decker RA	Human molecular genetics	1998	PMID: 9384613
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.	Ito S	Cancer research	1997	PMID: 9230192
RET in human development and oncogenesis.	Edery P	BioEssays : news and reviews in molecular, cellular and developmental biology	1997	PMID: 9174404
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.	Eng C	Human mutation	1997	PMID: 9067749
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.	Eng C	JAMA	1996	PMID: 8918855
Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.	Landsvater RM	Human genetics	1996	PMID: 8557249
Mutations in the cysteine-rich region of the RET proto-oncogene in patients diagnosed as having sporadic medullary thyroid carcinoma.	Kimura T	Endocrine journal	1995	PMID: 8556059
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.	Santoro M	Science (New York, N.Y.)	1995	PMID: 7824936
The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects.	Beldjord C	The Journal of clinical endocrinology and metabolism	1995	PMID: 7608256
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.	Xue F	Human molecular genetics	1994	PMID: 7915165
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.	Donis-Keller H	Human molecular genetics	1993	PMID: 8103403
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Text-mined citations for rs79781594 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 06, 2026