5239[Gene ID] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001533, LOC130001534 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	STOML2, TAF1L +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 1278897	NM_021965.4(PGM5):c.-32G>A	PGM5, PGM5-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2207257	NM_021965.4(PGM5):c.40G>A (p.Ala14Thr)	PGM5, PGM5-AS1 (A14T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382747	NM_021965.4(PGM5):c.49G>A (p.Glu17Lys)	PGM5, PGM5-AS1 (E17K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258318	NM_021965.4(PGM5):c.52G>C (p.Asp18His)	PGM5, PGM5-AS1 (D18H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224001	NM_021965.4(PGM5):c.76G>A (p.Gly26Ser)	PGM5-AS1, PGM5 (G26S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458700	NM_021965.4(PGM5):c.94G>A (p.Gly32Ser)	PGM5, PGM5-AS1 (G32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614388	NM_021965.4(PGM5):c.117C>G (p.Asn39Lys)	PGM5, PGM5-AS1 (N39K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550131	NM_021965.4(PGM5):c.186G>T (p.Met62Ile)	PGM5, PGM5-AS1 (M62I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347296	NM_021965.4(PGM5):c.202G>A (p.Gly68Ser)	PGM5-AS1, PGM5 (G68S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553859	NM_021965.4(PGM5):c.287A>C (p.Asn96Thr)	PGM5 (N96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778427	NM_021965.4(PGM5):c.300G>A (p.Ser100=)	PGM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2275141	NM_021965.4(PGM5):c.365G>T (p.Ser122Ile)	PGM5 (S122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770581	NM_021965.4(PGM5):c.366C>T (p.Ser122=)	PGM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606692	NM_021965.4(PGM5):c.431C>T (p.Ala144Val)	PGM5 (A144V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470492	NM_021965.4(PGM5):c.467G>A (p.Ser156Asn)	PGM5 (S156N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325044	NM_021965.4(PGM5):c.473C>T (p.Thr158Met)	PGM5 (T158M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607788	NM_021965.4(PGM5):c.515T>C (p.Leu172Pro)	PGM5 (L172P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384704	NM_021965.4(PGM5):c.521G>A (p.Arg174Gln)	PGM5 (R174Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387729	NM_021965.4(PGM5):c.565T>C (p.Phe189Leu)	PGM5 (F189L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525924	NM_021965.4(PGM5):c.580G>C (p.Val194Leu)	PGM5 (V194L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259745	NM_021965.4(PGM5):c.613C>T (p.Arg205Trp)	PGM5 (R205W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406254	NM_021965.4(PGM5):c.643G>A (p.Gly215Ser)	PGM5 (G215S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2235714	NM_021965.4(PGM5):c.676C>T (p.Arg226Cys)	PGM5 (R226C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395748	NM_021965.4(PGM5):c.679A>G (p.Ile227Val)	PGM5 (I227V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2410449	NM_021965.4(PGM5):c.680T>C (p.Ile227Thr)	PGM5 (I227T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294031	NM_021965.4(PGM5):c.721G>A (p.Val241Ile)	PGM5 (V241I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479782	NM_021965.4(PGM5):c.799C>G (p.Pro267Ala)	PGM5 (P267A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491565	NM_021965.4(PGM5):c.956C>T (p.Ala319Val)	PGM5 (A319V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549156	NM_021965.4(PGM5):c.961A>G (p.Asn321Asp)	PGM5 (N321D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499645	GRCh38/hg38 9q21.11(chr9:68417620-68744894)	LINC01506, LOC130001851 +10 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 148455	GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1	APBA1, BANCR +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	LOC130002043, LOC130002044 +1072 more	Copy number gain	See cases	GPathogenic
Select item 59106	GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1	APBA1, BANCR +40 more	Copy number loss	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 2391956	NM_021965.4(PGM5):c.1052A>G (p.Lys351Arg)	PGM5 (K351R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339900	NM_021965.4(PGM5):c.1079C>G (p.Thr360Ser)	PGM5 (T360S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475122	NM_021965.4(PGM5):c.1103C>T (p.Ser368Leu)	PGM5 (S368L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592232	NM_021965.4(PGM5):c.1229G>A (p.Arg410Gln)	PGM5 (R410Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370419	NM_021965.4(PGM5):c.1280G>A (p.Arg427His)	PGM5 (R427H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243802	NM_021965.4(PGM5):c.1286A>G (p.Tyr429Cys)	PGM5 (Y429C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320596	NM_021965.4(PGM5):c.1330T>C (p.Tyr444His)	PGM5 (Y444H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376477	NM_021965.4(PGM5):c.1379T>C (p.Ile460Thr)	PGM5 (I460T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486511	NM_021965.4(PGM5):c.1430A>T (p.Asp477Val)	PGM5 (D477V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC126860657, LOC128854705 +263 more	Copy number loss	See cases	GPathogenic
Select item 2517659	NM_021965.4(PGM5):c.1646T>C (p.Leu549Pro)	PGM5 (L549P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404791	NM_021965.4(PGM5):c.1679G>A (p.Arg560Gln)	PGM5 (R560Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1809319	GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3	ABHD17B, ALDH1A1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	JAK2, KANK1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +1 more	GLikely pathogenic
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 443719	GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1	ABHD17B, ALDH1A1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 442687	GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3	ABHD17B, ALDH1A1 +50 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 82