25720[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 2521335	NM_022078.3(GPATCH3):c.1469C>T (p.Thr490Met)	GPATCH3 (T490M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 446236	NM_022078.3(GPATCH3):c.1424G>A (p.Gly475Glu)	GPATCH3 (G475E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3038161	NM_022078.3(GPATCH3):c.1386A>G (p.Pro462=)	GPATCH3	Single nucleotide variant (synonymous variant)	GPATCH3-related disorder	GLikely benign
Select item 3044306	NM_022078.3(GPATCH3):c.1380A>G (p.Leu460=)	GPATCH3	Single nucleotide variant (synonymous variant)	GPATCH3-related disorder	GLikely benign
Select item 2274364	NM_022078.3(GPATCH3):c.1198G>A (p.Glu400Lys)	GPATCH3 (E400K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376873	NM_022078.3(GPATCH3):c.1151G>A (p.Arg384His)	GPATCH3 (R384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610857	NM_022078.3(GPATCH3):c.1148T>C (p.Met383Thr)	GPATCH3 (M383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240761	NM_022078.3(GPATCH3):c.1126G>A (p.Asp376Asn)	GPATCH3 (D376N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282075	NM_022078.3(GPATCH3):c.1117G>A (p.Gly373Arg)	GPATCH3 (G373R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479058	NM_022078.3(GPATCH3):c.1061A>G (p.Glu354Gly)	GPATCH3 (E354G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282078	NM_022078.3(GPATCH3):c.1025C>T (p.Ala342Val)	GPATCH3 (A342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358661	NM_022078.3(GPATCH3):c.944G>A (p.Arg315Gln)	GPATCH3 (R315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509789	NM_022078.3(GPATCH3):c.934G>A (p.Gly312Arg)	GPATCH3 (G312R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214333	NM_022078.3(GPATCH3):c.928G>A (p.Val310Met)	GPATCH3 (V310M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383004	NM_022078.3(GPATCH3):c.897A>T (p.Glu299Asp)	GPATCH3 (E299D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509854	NM_022078.3(GPATCH3):c.887G>T (p.Arg296Leu)	GPATCH3 (R296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101173	NM_022078.3(GPATCH3):c.886C>G (p.Arg296Gly)	GPATCH3 (R296G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210826	NM_022078.3(GPATCH3):c.860A>T (p.Glu287Val)	GPATCH3 (E287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477682	NM_022078.3(GPATCH3):c.782A>T (p.Gln261Leu)	GPATCH3 (Q261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492948	NM_022078.3(GPATCH3):c.775A>G (p.Ile259Val)	GPATCH3 (I259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278154	NM_022078.3(GPATCH3):c.760G>A (p.Ala254Thr)	GPATCH3 (A254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059663	NM_022078.3(GPATCH3):c.701A>G (p.Asn234Ser)	GPATCH3 (N234S)	Single nucleotide variant (missense variant)	GPATCH3-related disorder	GLikely benign
Select item 2619044	NM_022078.3(GPATCH3):c.697G>C (p.Gly233Arg)	GPATCH3 (G233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101172	NM_022078.3(GPATCH3):c.640C>T (p.Arg214Trp)	GPATCH3 (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101171	NM_022078.3(GPATCH3):c.638C>G (p.Pro213Arg)	GPATCH3 (P213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042198	NM_022078.3(GPATCH3):c.636C>T (p.Pro212=)	GPATCH3	Single nucleotide variant (synonymous variant)	GPATCH3-related disorder	GLikely benign
Select item 3282077	NM_022078.3(GPATCH3):c.620G>A (p.Arg207Gln)	GPATCH3 (R207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237207	NM_022078.3(GPATCH3):c.619C>T (p.Arg207Trp)	GPATCH3 (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217803	NM_022078.3(GPATCH3):c.598C>T (p.Arg200Trp)	GPATCH3 (R200W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 871135	NM_022078.3(GPATCH3):c.593C>T (p.Pro198Leu)	GPATCH3 (P198L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492847	NM_022078.3(GPATCH3):c.574A>G (p.Arg192Gly)	GPATCH3 (R192G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101170	NM_022078.3(GPATCH3):c.568A>G (p.Met190Val)	GPATCH3 (M190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203815	NM_022078.3(GPATCH3):c.545C>T (p.Pro182Leu)	GPATCH3 (P182L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282074	NM_022078.3(GPATCH3):c.538C>G (p.Gln180Glu)	GPATCH3 (Q180E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049452	NM_022078.3(GPATCH3):c.451+3A>G	GPATCH3	Single nucleotide variant (intron variant)	GPATCH3-related disorder	GLikely benign
Select item 3101169	NM_022078.3(GPATCH3):c.434T>C (p.Leu145Pro)	GPATCH3 (L145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529602	NM_022078.3(GPATCH3):c.418A>G (p.Ile140Val)	GPATCH3 (I140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328023	NM_022078.3(GPATCH3):c.370C>T (p.Arg124Cys)	GPATCH3 (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101167	NM_022078.3(GPATCH3):c.365C>T (p.Ser122Leu)	GPATCH3 (S122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615865	NM_022078.3(GPATCH3):c.318C>G (p.Ile106Met)	GPATCH3 (I106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292880	NM_022078.3(GPATCH3):c.205A>G (p.Thr69Ala)	GPATCH3, NUDC (T69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220830	NM_022078.3(GPATCH3):c.177G>T (p.Gln59His)	GPATCH3, NUDC (Q59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282079	NM_022078.3(GPATCH3):c.106T>C (p.Phe36Leu)	GPATCH3, NUDC (F36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217802	NM_022078.3(GPATCH3):c.104A>G (p.Gln35Arg)	GPATCH3, NUDC (Q35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622508	NM_022078.3(GPATCH3):c.79G>T (p.Ala27Ser)	GPATCH3, NUDC (A27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365252	NM_022078.3(GPATCH3):c.62C>A (p.Pro21His)	GPATCH3, NUDC (P21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324529	NM_022078.3(GPATCH3):c.25G>C (p.Glu9Gln)	GPATCH3, LOC129929851 +1 more (E9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049455	NC_000001.11:g.26900659A>G	GPATCH3, NUDC	Single nucleotide variant	GPATCH3-related disorder	GLikely benign
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1527725	GRCh37/hg19 1p36.11(chr1:27119557-27547784)	GPATCH3, GPN2 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1412090	NC_000001.10:g.(?_27117307)_(27480825_?)dup	ZDHHC18, GPATCH3 +9 more	Duplication	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 58