ClinVar for PubMed (Select 25741868) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4717804	NM_004329.3(BMPR1A):c.958T>G (p.Phe320Val)	BMPR1A (F292V +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 4717732	NM_000593.6(TAP1):c.891T>C (p.Asp297=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4717721	NC_000006.12:g.32853733G>A	TAP1	Single nucleotide variant	MHC class I deficiency	GLikely benign
Select item 4717478	NM_003190.5(TAPBP):c.389G>A (p.Ser130Asn)	TAPBP (S130N)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 4717210	NM_000238.4(KCNH2):c.1505T>C (p.Met502Thr)	KCNH2 (M406T +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 4717139	NM_003190.5(TAPBP):c.471G>A (p.Val157=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GUncertain significance
Select item 4716683	NM_001290043.2(TAP2):c.1462-17T>G	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 4716504	NM_000593.6(TAP1):c.1455C>A (p.Thr485=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4716319	NM_000256.3(MYBPC3):c.3100G>A (p.Ala1034Thr)	MYBPC3 (A1034T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 4716273	NM_001370259.2(MEN1):c.1348C>G (p.Gln450Glu)	MEN1 (Q415E +5 more)	Single nucleotide variant (missense variant +2 more)	Multiple endocrine neoplasia, type 1	GUncertain significance
Select item 4716272	NM_058216.3(RAD51C):c.1095C>T (p.Thr365=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +1 more	GLikely benign
Select item 4715870	NM_177438.3(DICER1):c.3990T>A (p.Tyr1330Ter)	DICER1 (Y1330* +4 more)	Single nucleotide variant (nonsense +1 more)	DICER1-related tumor predisposition	GPathogenic/Likely pathogenic
Select item 4715757	NM_177438.3(DICER1):c.5365-19_5410del	DICER1	Deletion (splice acceptor variant +1 more)	DICER1-related tumor predisposition	GLikely pathogenic
Select item 4715250	NM_000335.5(SCN5A):c.2139G>A (p.Val713=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 4714470	NM_003073.5(SMARCB1):c.312del (p.Asp104fs)	SMARCB1 (D104fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4713523	NM_000593.6(TAP1):c.45C>T (p.Leu15=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4713304	NM_003190.5(TAPBP):c.1009G>C (p.Gly337Arg)	TAPBP (G250R +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 4712388	NM_177438.3(DICER1):c.590dup (p.Ser198fs)	DICER1 (S63fs +3 more)	Duplication (frameshift variant +2 more)	DICER1-related tumor predisposition	GPathogenic/Likely pathogenic
Select item 4712238	NM_000038.6(APC):c.3436C>A (p.Arg1146Ser)	APC (R1017S +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 4712019	NM_000593.6(TAP1):c.268del (p.Gln90fs)	TAP1 (Q90fs)	Deletion (frameshift variant)	MHC class I deficiency	GPathogenic
Select item 4711930	NM_000038.6(APC):c.932A>C (p.Lys311Thr)	APC (K311T +6 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 4711751	NM_000593.6(TAP1):c.-46G>A	TAP1	Single nucleotide variant (5 prime UTR variant)	MHC class I deficiency	GLikely benign
Select item 4710755	NM_000264.5(PTCH1):c.1501C>T (p.Gln501Ter)	PTCH1 (Q435* +3 more)	Single nucleotide variant (nonsense +2 more)	Basal cell nevus syndrome 1 +1 more	GPathogenic
Select item 4710467	NM_000593.6(TAP1):c.1224T>C (p.Tyr408=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4710191	NM_005902.4(SMAD3):c.590A>T (p.Asn197Ile)	SMAD3 (N48I +5 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 4709740	NM_004329.3(BMPR1A):c.872T>C (p.Phe291Ser)	BMPR1A (F316S +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 4709412	NM_001290043.2(TAP2):c.252G>C (p.Ala84=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4708424	NM_002474.3(MYH11):c.4578+6T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 4707775	NM_001290043.2(TAP2):c.1518G>A (p.Gly506=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4707437	NM_000256.3(MYBPC3):c.1047A>G (p.Leu349=)	MYBPC3	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 4706862	NM_000593.6(TAP1):c.366_372del (p.Gly123fs)	TAP1 (G123fs)	Deletion (frameshift variant)	MHC class I deficiency	GPathogenic
Select item 4706582	NM_001290043.2(TAP2):c.1144-12C>T	TAP2	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 4706182	NM_001035.3(RYR2):c.8209-4del	RYR2	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GBenign/Likely benign
Select item 4705807	NM_000540.3(RYR1):c.495G>A (p.Gly165=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GLikely benign
Select item 4705806	NM_001613.4(ACTA2):c.510C>A (p.Gly170=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6 +1 more	GLikely benign
Select item 4705676	NM_000257.4(MYH7):c.3613G>C (p.Glu1205Gln)	MYH7 (E1205Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 4705634	NM_002474.3(MYH11):c.1509C>T (p.Gly503=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +1 more	GLikely benign
Select item 4705323	NM_024740.2(ALG9):c.427C>T (p.Arg143Ter)	ALG9 (R143*)	Single nucleotide variant (nonsense +2 more)	Gillessen-Kaesbach-Nishimura syndrome +2 more	GPathogenic/Likely pathogenic
Select item 4705105	NM_001035.3(RYR2):c.7334T>C (p.Ile2445Thr)	RYR2 (I2445T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 4705088	NM_020975.6(RET):c.1533G>C (p.Glu511Asp)	RET (E212D +12 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 4704975	NM_003190.5(TAPBP):c.1300+18C>G	TAPBP	Single nucleotide variant (intron variant)	MHC class I deficiency	GLikely benign
Select item 4704843	NM_003190.5(TAPBP):c.349C>T (p.Arg117Trp)	TAPBP (R117W)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 4704405	NM_000218.3(KCNQ1):c.1297C>T (p.Pro433Ser)	KCNQ1 (P253S +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 4704366	NM_007294.4(BRCA1):c.2977A>G (p.Lys993Glu)	BRCA1 (K904E +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 4703522	NM_000257.4(MYH7):c.5695G>T (p.Val1899Leu)	MYH7 (V1899L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 4703166	NM_000548.5(TSC2):c.96G>C (p.Glu32Asp)	TSC2 (E43D +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Tuberous sclerosis 2 +1 more	GUncertain significance
Select item 4702582	NM_003190.5(TAPBP):c.45G>T (p.Ala15=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4702439	NM_003640.5(ELP1):c.1643G>T (p.Ser548Ile)	ELP1 (S199I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 4702276	NM_000038.6(APC):c.4016G>T (p.Gly1339Val)	APC (G1213V +18 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 4702023	NM_003190.5(TAPBP):c.623G>T (p.Arg208Leu)	TAPBP (R121L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 4702002	NM_001290043.2(TAP2):c.1275C>T (p.Thr425=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4700120	NM_003190.5(TAPBP):c.561C>A (p.Pro187=)	TAPBP	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4699976	NM_177438.3(DICER1):c.2650+1G>C	DICER1	Single nucleotide variant (splice donor variant)	DICER1-related tumor predisposition	GPathogenic/Likely pathogenic
Select item 4699129	NM_000249.4(MLH1):c.1956A>C (p.Gly652=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 4698552	NM_003242.6(TGFBR2):c.524C>T (p.Pro175Leu)	TGFBR2 (P140L +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 4697003	NM_000540.3(RYR1):c.7561G>A (p.Val2521Met)	RYR1 (V2521M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 4696087	NM_016203.4(PRKAG2):c.244C>G (p.Gln82Glu)	PRKAG2 (Q82E +1 more)	Single nucleotide variant (missense variant +1 more)	Lethal congenital glycogen storage disease of heart +1 more	GUncertain significance
Select item 4695946	NM_000527.5(LDLR):c.119T>C (p.Ile40Thr)	LDLR (I126T +1 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GUncertain significance
Select item 4694667	NM_001128840.3(CACNA1D):c.4172C>T (p.Thr1391Met)	CACNA1D (T1376M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 4694335	NM_000335.5(SCN5A):c.2217C>T (p.Tyr739=)	SCN5A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 4694054	NM_003190.5(TAPBP):c.706G>T (p.Val236Leu)	TAPBP (V236L +1 more)	Single nucleotide variant (missense variant)	MHC class I deficiency	GUncertain significance
Select item 4693867	NM_001290043.2(TAP2):c.996G>A (p.Val332=)	TAP2	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4693690	NM_003190.5(TAPBP):c.382A>G (p.Ile128Val)	TAPBP (I128V)	Single nucleotide variant (missense variant +1 more)	MHC class I deficiency	GUncertain significance
Select item 4693373	NM_000593.6(TAP1):c.48C>T (p.Pro16=)	TAP1	Single nucleotide variant (synonymous variant)	MHC class I deficiency	GLikely benign
Select item 4692460	NM_002474.3(MYH11):c.1305G>C (p.Trp435Cys)	MYH11 (W435C +1 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 4 +1 more	GUncertain significance
Select item 4690975	NM_001035.3(RYR2):c.1295G>T (p.Gly432Val)	RYR2 (G432V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 4690287	NM_001367721.1(CASK):c.2771G>A (p.Trp924Ter)	CASK, CASK-AS1 (W895* +4 more)	Single nucleotide variant (nonsense)	FG syndrome 4	GVUS-high
Select item 4690286	NM_000138.5(FBN1):c.2655_2658dup (p.Cys887fs)	FBN1 (C887fs)	Duplication (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 4690285	NM_001122659.3(EDNRB):c.29G>A (p.Arg10His)	EDNRB (R100H +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 4A	GLikely benign
Select item 4690284	NM_001385012.1(NBEA):c.4618G>T (p.Asp1540Tyr)	NBEA (D1537Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without early-onset generalized epilepsy	GLikely benign
Select item 4690283	NM_000444.6(PHEX):c.1700G>A (p.Arg567Gln)	PHEX, PTCHD1-AS (R567Q)	Single nucleotide variant (missense variant)	Familial X-linked hypophosphatemic vitamin D refractory rickets	GLikely benign
Select item 4690282	NM_001376.5(DYNC1H1):c.5337C>G (p.His1779Gln)	DYNC1H1 (H1779Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 4690281	NM_001048166.1(STIL):c.311G>A (p.Arg104Gln)	STIL (R104Q)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GLikely benign
Select item 4690280	NM_001123396.4(CCR2):c.475G>T (p.Val159Leu)	CCR2 (V159L)	Single nucleotide variant (missense variant)	Cystic disease of lung	GLikely benign
Select item 4690279	NM_001163809.2(WDR81):c.4060G>A (p.Val1354Met)	WDR81 (V127M +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2	GLikely benign
Select item 4690278	NM_001204.7(BMPR2):c.621+4A>C	BMPR2	Single nucleotide variant (intron variant)	Pulmonary hypertension, primary, 1	GLikely benign
Select item 4690277	NM_173630.4(RTTN):c.4374+7G>A	RTTN	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism due to RTTN deficiency	GLikely benign
Select item 4690273	NM_020632.3(ATP6V0A4):c.2439C>G (p.Phe813Leu)	ATP6V0A4 (F813L)	Single nucleotide variant (missense variant)	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	GLikely pathogenic
Select item 4690272	NM_001001331.4(ATP2B2):c.358G>A (p.Gly120Arg)	ATP2B2 (G120R)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 4690269	NM_000505.4(F12):c.1339T>C (p.Tyr447His)	F12, PFN3 +1 more (Y447H)	Single nucleotide variant (missense variant)	Hereditary angioedema type 3	GUncertain significance
Select item 4690267	GRCh38/hg38 22q13.33(chr22:50083300-50808467)x1	ACR, ADM2 +128 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 4690266	GRCh38/hg38 Xp21.1(chrX:31802311-32056914)x1	DMD, LOC129391296	Copy number loss	Duchenne muscular dystrophy	GPathogenic
Select item 4690253	NM_001098511.3(KIF2A):c.73C>T (p.His25Tyr)	KIF2A (H25Y)	Single nucleotide variant (missense variant +1 more)	Global developmental delay	GUncertain significance
Select item 4690252	NM_014847.4(UBAP2L):c.2393T>A (p.Leu798Ter)	SNORA58B, UBAP2L (L791* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies	GLikely pathogenic
Select item 4690251	NM_001367534.1(CAMK2G):c.173_174del (p.Leu58fs)	CAMK2G (L50fs +1 more)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder 59	GLikely pathogenic
Select item 4690250	NM_007294.4(BRCA1):c.4495del (p.Ser1499fs)	BRCA1 (S1202fs +75 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely pathogenic
Select item 4690249	NM_006231.4(POLE):c.204+1G>C	POLE	Single nucleotide variant (splice donor variant)	Colorectal cancer, susceptibility to, 12	GLikely pathogenic
Select item 4690248	NM_001013836.2(MAD1L1):c.244C>T (p.Arg82Ter)	MAD1L1 (R82*)	Single nucleotide variant (nonsense +1 more)	Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	GLikely pathogenic
Select item 4690247	NM_006231.4(POLE):c.1107-1G>C	POLE	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, susceptibility to, 12	GLikely pathogenic
Select item 4690246	NM_001367721.1(CASK):c.1315-4_1315-1dup	CASK	Duplication (splice acceptor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 4690245	NM_001367721.1(CASK):c.665_666delinsT (p.Thr222fs)	CASK (T222fs)	Indel (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 4690244	NM_001367721.1(CASK):c.2285A>G (p.Lys762Arg)	CASK (K733R +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 4690235	NC_000023.11:g.41772635_41895004del	CASK	Deletion	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 4690234	NM_006231.4(POLE):c.907dup (p.Gln303fs)	POLE (Q303fs)	Duplication (frameshift variant)	Colorectal cancer, susceptibility to, 12	GLikely pathogenic
Select item 4690233	NM_000059.4(BRCA2):c.4473_4476delinsTT (p.Leu1491_Lys1492insTer)	BRCA2	Indel (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 4690232	NM_000059.4(BRCA2):c.5379dup (p.Val1794fs)	BRCA2 (V1794fs)	Duplication (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 4690231	NM_058216.3(RAD51C):c.162_163insTA (p.Ala55Ter)	RAD51C (A55*)	Insertion (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 4690230	NM_000059.4(BRCA2):c.3316del (p.Ser1106fs)	BRCA2 (S1106fs)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 4690229	NM_000059.4(BRCA2):c.673dup (p.Thr225fs)	BRCA2 (T102fs +1 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 4690228	NM_004360.5(CDH1):c.127del (p.Arg43fs)	CDH1 (R43fs)	Deletion (frameshift variant +1 more)	Hereditary diffuse gastric adenocarcinoma	GLikely pathogenic

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