3578[HGNC] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 153324	GRCh38/hg38 1p33-32.3(chr1:49807460-51412851)x3	AGBL4, C1orf185 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57108	GRCh38/hg38 1p32.3(chr1:50462649-51149312)x3	C1orf185, CDKN2C +25 more	Copy number gain	See cases	GUncertain significance
Select item 2485481	NM_007051.3(FAF1):c.1658T>C (p.Ile553Thr)	FAF1 (I553T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277054	NM_007051.3(FAF1):c.1648C>T (p.Arg550Cys)	FAF1 (R550C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767670	NM_007051.3(FAF1):c.1575+8T>G	FAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3277052	NM_007051.3(FAF1):c.1450A>G (p.Met484Val)	FAF1 (M484V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277055	NM_007051.3(FAF1):c.1426T>A (p.Leu476Ile)	FAF1 (L476I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277051	NM_007051.3(FAF1):c.1412C>T (p.Thr471Ile)	FAF1 (T471I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353386	NM_007051.3(FAF1):c.1334C>T (p.Thr445Met)	FAF1 (T445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277036	NM_007051.3(FAF1):c.1321C>T (p.Arg441Trp)	FAF1 (R441W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346168	NM_007051.3(FAF1):c.1256C>A (p.Ser419Tyr)	FAF1 (S419Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306572	NM_007051.3(FAF1):c.1149A>C (p.Glu383Asp)	FAF1 (E383D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337986	NM_007051.3(FAF1):c.1129A>G (p.Ile377Val)	FAF1 (I377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521653	NM_007051.3(FAF1):c.1109G>A (p.Arg370Gln)	FAF1 (R370Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237867	NM_007051.3(FAF1):c.1083T>A (p.Phe361Leu)	FAF1 (F361L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091590	NM_007051.3(FAF1):c.964A>T (p.Met322Leu)	FAF1 (M322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091589	NM_007051.3(FAF1):c.946G>T (p.Ala316Ser)	FAF1 (A316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559543	NM_007051.3(FAF1):c.941C>T (p.Ser314Leu)	FAF1 (S314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091588	NM_007051.3(FAF1):c.910G>C (p.Val304Leu)	FAF1 (V304L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091587	NM_007051.3(FAF1):c.852T>A (p.Asp284Glu)	FAF1 (D284E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376623	NM_007051.3(FAF1):c.819G>C (p.Gln273His)	FAF1 (Q273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241811	NM_007051.3(FAF1):c.805T>C (p.Ser269Pro)	FAF1 (S269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283056	NM_007051.3(FAF1):c.755C>G (p.Ala252Gly)	FAF1 (A252G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277056	NM_007051.3(FAF1):c.746T>C (p.Met249Thr)	FAF1 (M249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091586	NM_007051.3(FAF1):c.604G>A (p.Glu202Lys)	FAF1 (E202K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277053	NM_007051.3(FAF1):c.552T>A (p.Gly184=)	FAF1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3091585	NM_007051.3(FAF1):c.499C>G (p.Leu167Val)	FAF1 (L167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216828	NM_007051.3(FAF1):c.496A>G (p.Ser166Gly)	FAF1 (S166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091584	NM_007051.3(FAF1):c.385C>G (p.Leu129Val)	FAF1 (L129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091583	NM_007051.3(FAF1):c.364G>A (p.Val122Ile)	FAF1 (V122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559916	NM_007051.3(FAF1):c.352G>C (p.Asp118His)	FAF1 (D118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588140	NM_007051.3(FAF1):c.338A>T (p.Asp113Val)	FAF1 (D113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091581	NM_007051.3(FAF1):c.293C>G (p.Pro98Arg)	FAF1 (P98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223857	NM_007051.3(FAF1):c.214C>T (p.Pro72Ser)	FAF1 (P72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606143	NM_007051.3(FAF1):c.173G>T (p.Gly58Val)	FAF1 (G58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685804	GRCh37/hg19 1p32.3(chr1:51284375-51569360)x3	C1orf185, CDKN2C +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685432	GRCh37/hg19 1p32.3(chr1:51007512-51109162)x1	FAF1	Copy number loss	not provided	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1339837	GRCh37/hg19 1p32.3(chr1:51105133-51347658)x1	FAF1	Copy number loss	not provided	Gnot provided
Select item 1334890	Single allele	CDKN2C, FAF1	Deletion	Adrenal cortex carcinoma	GUncertain significance
Select item 980377	GRCh37/hg19 1p32.3(chr1:51110292-51278635)x1	FAF1	Copy number loss	not provided	GUncertain significance
Select item 814081	GRCh37/hg19 1p32.3(chr1:51148897-51573845)x3	C1orf185, CDKN2C +1 more	Copy number gain	not provided	GUncertain significance
Select item 814080	GRCh37/hg19 1p32.3(chr1:51049896-51261965)x3	FAF1	Copy number gain	not provided	GUncertain significance
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	TXNDC12, AGBL4 +28 more	Copy number loss	not provided	GPathogenic
Select item 688354	GRCh37/hg19 1p32.3(chr1:51223199-51545246)x3	CDKN2C, FAF1	Copy number gain	not provided	GUncertain significance
Select item 686013	GRCh37/hg19 1p33-32.3(chr1:48833544-51095911)x1	AGBL4, BEND5 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685868	GRCh37/hg19 1p32.3(chr1:51016678-51339319)x1	FAF1	Copy number loss	not provided	GUncertain significance
Select item 638117	GRCh37/hg19 1p32.3(chr1:50966897-51403595)x1	FAF1	Copy number loss	See cases	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 565095	GRCh37/hg19 1p32.3(chr1:51135986-51475942)x3	CDKN2C, FAF1	Copy number gain	not provided	GUncertain significance
Select item 565094	GRCh37/hg19 1p32.3(chr1:50978592-51238899)x1	FAF1	Copy number loss	not provided	GUncertain significance
Select item 523267	GRCh37/hg19 1p33-32.3(chr1:50458362-51306889)	AGBL4, DMRTA2 +2 more	Copy number loss	Global developmental delay	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

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Items: 57