WDTC1[gene] - ClinVar

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Items: 44

	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 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 3333040	NM_001276252.2(WDTC1):c.5C>T (p.Ala2Val)	WDTC1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732763	NM_001276252.2(WDTC1):c.6G>A (p.Ala2=)	WDTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2220274	NM_001276252.2(WDTC1):c.32T>A (p.Ile11Asn)	WDTC1 (I11N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333042	NM_001276252.2(WDTC1):c.34C>T (p.Arg12Cys)	WDTC1 (R12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333041	NM_001276252.2(WDTC1):c.56G>T (p.Gly19Val)	WDTC1 (G19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190440	NM_001276252.2(WDTC1):c.74G>A (p.Arg25Gln)	WDTC1 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723479	NM_001276252.2(WDTC1):c.132+7G>T	WDTC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3333039	NM_001276252.2(WDTC1):c.416G>A (p.Arg139His)	WDTC1 (R139H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339220	NM_001276252.2(WDTC1):c.511T>G (p.Ser171Ala)	WDTC1 (S171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243767	NM_001276252.2(WDTC1):c.861G>T (p.Met287Ile)	WDTC1 (M287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472798	NM_001276252.2(WDTC1):c.863G>C (p.Gly288Ala)	WDTC1 (G288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215585	NM_001276252.2(WDTC1):c.889T>A (p.Leu297Met)	WDTC1 (L297M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773630	NM_001276252.2(WDTC1):c.921C>T (p.Leu307=)	WDTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 790485	NM_001276252.2(WDTC1):c.978C>T (p.Asn326=)	WDTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2536667	NM_001276252.2(WDTC1):c.1001A>G (p.Asn334Ser)	WDTC1 (N333S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371304	NM_001276252.2(WDTC1):c.1030C>T (p.Arg344Trp)	WDTC1 (R344W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484713	NM_001276252.2(WDTC1):c.1031G>A (p.Arg344Gln)	WDTC1 (R343Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230304	NM_001276252.2(WDTC1):c.1037C>T (p.Pro346Leu)	WDTC1 (P345L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383477	NM_001276252.2(WDTC1):c.1089G>C (p.Glu363Asp)	WDTC1 (E363D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190435	NM_001276252.2(WDTC1):c.1182C>A (p.His394Gln)	WDTC1 (H394Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333044	NM_001276252.2(WDTC1):c.1430G>A (p.Arg477His)	WDTC1 (R477H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190436	NM_001276252.2(WDTC1):c.1496C>T (p.Ala499Val)	WDTC1 (A498V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373889	NM_001276252.2(WDTC1):c.1504C>T (p.Arg502Cys)	WDTC1 (R501C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467055	NM_001276252.2(WDTC1):c.1510C>T (p.Arg504Cys)	WDTC1 (R503C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349509	NM_001276252.2(WDTC1):c.1517C>T (p.Thr506Met)	WDTC1 (T505M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314039	NM_001276252.2(WDTC1):c.1535T>C (p.Ile512Thr)	WDTC1 (I511T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333043	NM_001276252.2(WDTC1):c.1551G>A (p.Met517Ile)	WDTC1 (M517I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190437	NM_001276252.2(WDTC1):c.1571A>G (p.Tyr524Cys)	WDTC1 (Y523C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258341	NM_001276252.2(WDTC1):c.1576T>C (p.Tyr526His)	WDTC1 (Y526H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547403	NM_001276252.2(WDTC1):c.1631A>C (p.Asn544Thr)	WDTC1 (N543T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190438	NM_001276252.2(WDTC1):c.1771A>G (p.Ser591Gly)	WDTC1 (S591G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790486	NM_001276252.2(WDTC1):c.1824C>T (p.Asn608=)	WDTC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2265586	NM_001276252.2(WDTC1):c.1872G>T (p.Met624Ile)	WDTC1 (M623I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406714	NM_001276252.2(WDTC1):c.1976C>T (p.Ala659Val)	WDTC1 (A658V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	GPathogenic
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

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Items: 44