DMRTA2[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +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 3083154	NM_032110.3(DMRTA2):c.1550C>T (p.Ala517Val)	DMRTA2 (A517V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208335	NM_032110.3(DMRTA2):c.1550C>G (p.Ala517Gly)	DMRTA2 (A517G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681239	NM_032110.3(DMRTA2):c.1541C>T (p.Ala514Val)	DMRTA2 (A514V)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2400778	NM_032110.3(DMRTA2):c.1540G>A (p.Ala514Thr)	DMRTA2 (A514T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259190	NM_032110.3(DMRTA2):c.1521T>A (p.Asp507Glu)	DMRTA2 (D507E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083153	NM_032110.3(DMRTA2):c.1495C>T (p.Pro499Ser)	DMRTA2 (P499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266374	NM_032110.3(DMRTA2):c.1493G>C (p.Arg498Pro)	DMRTA2 (R498P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369369	NM_032110.3(DMRTA2):c.1432C>G (p.Arg478Gly)	DMRTA2 (R478G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225473	NM_032110.3(DMRTA2):c.1431C>A (p.Ser477Arg)	DMRTA2 (S477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337061	NM_032110.3(DMRTA2):c.1430G>A (p.Ser477Asn)	DMRTA2 (S477N)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3083151	NM_032110.3(DMRTA2):c.1355C>T (p.Ala452Val)	DMRTA2 (A452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324876	NM_032110.3(DMRTA2):c.1337G>C (p.Ser446Thr)	DMRTA2 (S446T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083150	NM_032110.3(DMRTA2):c.1319C>T (p.Pro440Leu)	DMRTA2 (P440L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267159	NM_032110.3(DMRTA2):c.1238C>T (p.Pro413Leu)	DMRTA2 (P413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356850	NM_032110.3(DMRTA2):c.1223C>G (p.Ala408Gly)	DMRTA2 (A408G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337068	NM_032110.3(DMRTA2):c.1217T>A (p.Leu406Gln)	DMRTA2 (L406Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337074	NM_032110.3(DMRTA2):c.1166CCG[7] (p.Ala396_Ala397del)	DMRTA2	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 1337081	NM_032110.3(DMRTA2):c.1188C>T (p.Ala396=)	DMRTA2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2482989	NM_032110.3(DMRTA2):c.1186G>T (p.Ala396Ser)	DMRTA2 (A396S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337084	NM_032110.3(DMRTA2):c.1182C>T (p.Ala394=)	DMRTA2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2361671	NM_032110.3(DMRTA2):c.1144G>A (p.Ala382Thr)	DMRTA2 (A382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083149	NM_032110.3(DMRTA2):c.1140C>A (p.Asp380Glu)	DMRTA2 (D380E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083148	NM_032110.3(DMRTA2):c.1132G>A (p.Ala378Thr)	DMRTA2 (A378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263794	NM_032110.3(DMRTA2):c.1120G>C (p.Gly374Arg)	DMRTA2 (G374R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281193	NM_032110.3(DMRTA2):c.1097C>T (p.Ala366Val)	DMRTA2 (A366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387015	NM_032110.3(DMRTA2):c.946C>T (p.Pro316Ser)	DMRTA2 (P316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460549	NM_032110.3(DMRTA2):c.925T>A (p.Ser309Thr)	DMRTA2 (S309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806134	NM_032110.3(DMRTA2):c.865G>T (p.Gly289Cys)	DMRTA2 (G289C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806135	NM_032110.3(DMRTA2):c.784A>G (p.Ser262Gly)	DMRTA2 (S262G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2344225	NM_032110.3(DMRTA2):c.775G>A (p.Ala259Thr)	DMRTA2 (A259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083156	NM_032110.3(DMRTA2):c.737C>G (p.Ser246Cys)	DMRTA2 (S246C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296842	NM_032110.3(DMRTA2):c.706G>A (p.Gly236Ser)	DMRTA2 (G236S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458049	NM_032110.3(DMRTA2):c.697G>A (p.Val233Met)	DMRTA2 (V233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083155	NM_032110.3(DMRTA2):c.536G>A (p.Gly179Glu)	DMRTA2 (G179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364424	NM_032110.3(DMRTA2):c.499G>C (p.Gly167Arg)	DMRTA2 (G167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556595	NM_032110.3(DMRTA2):c.430G>A (p.Ala144Thr)	DMRTA2 (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370332	NM_032110.3(DMRTA2):c.211G>T (p.Ala71Ser)	DMRTA2 (A71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278729	NM_032110.3(DMRTA2):c.70C>A (p.Pro24Thr)	DMRTA2 (P24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621283	NM_032110.3(DMRTA2):c.43A>G (p.Thr15Ala)	DMRTA2 (T15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522399	NM_032110.3(DMRTA2):c.28G>C (p.Val10Leu)	DMRTA2 (V10L)	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 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 814074	GRCh37/hg19 1p33-32.3(chr1:47272184-52505405)x1	AGBL4, BEND5 +28 more	Copy number loss	not provided	GPathogenic
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 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 51