ClinVar for Gene (Select 55108) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261913	NM_018045.8(BSDC1):c.208G>A (p.Ala70Thr)	BSDC1 (A87T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3261912	NM_018045.8(BSDC1):c.101G>A (p.Arg34Gln)	BSDC1 (R34Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3261911	NM_018045.8(BSDC1):c.362G>A (p.Arg121His)	BSDC1 (R26H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135215	NM_018045.8(BSDC1):c.88G>A (p.Glu30Lys)	BSDC1 (E30K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135214	NM_018045.8(BSDC1):c.601C>G (p.Gln201Glu)	BSDC1 (Q145E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135212	NM_018045.8(BSDC1):c.5C>T (p.Ala2Val)	BSDC1 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135211	NM_018045.8(BSDC1):c.58G>A (p.Ala20Thr)	BSDC1 (A20T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135210	NM_018045.8(BSDC1):c.197G>A (p.Gly66Asp)	BSDC1 (G66D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135209	NM_018045.8(BSDC1):c.1255G>A (p.Gly419Arg)	BSDC1 (G363R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135207	NM_018045.8(BSDC1):c.1171A>G (p.Ile391Val)	BSDC1 (I408V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2551777	NM_018045.8(BSDC1):c.289A>T (p.Ile97Phe)	BSDC1 (I114F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2495038	NM_018045.8(BSDC1):c.398G>A (p.Cys133Tyr)	BSDC1 (C133Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492288	NM_018045.8(BSDC1):c.1229T>C (p.Met410Thr)	BSDC1 (M410T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487447	NM_018045.8(BSDC1):c.971G>A (p.Gly324Asp)	BSDC1 (G324D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454537	NM_018045.8(BSDC1):c.839G>A (p.Ser280Asn)	BSDC1 (S280N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405321	NM_018045.8(BSDC1):c.820G>T (p.Val274Leu)	BSDC1 (V218L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394049	NM_018045.8(BSDC1):c.459G>C (p.Glu153Asp)	BSDC1 (E58D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387810	NM_018045.8(BSDC1):c.1144A>G (p.Asn382Asp)	BSDC1 (N326D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364066	NM_018045.8(BSDC1):c.368A>G (p.Tyr123Cys)	BSDC1 (Y123C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361137	NM_018045.8(BSDC1):c.689G>T (p.Gly230Val)	BSDC1 (G174V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353777	NM_018045.8(BSDC1):c.1253C>T (p.Ser418Phe)	BSDC1 (S362F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322572	NM_018045.8(BSDC1):c.452G>T (p.Cys151Phe)	BSDC1 (C151F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317871	NM_018045.8(BSDC1):c.82G>A (p.Ala28Thr)	BSDC1 (A28T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311218	NM_018045.8(BSDC1):c.80A>C (p.Glu27Ala)	BSDC1 (E27A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311063	NM_018045.8(BSDC1):c.721G>A (p.Val241Ile)	BSDC1 (V146I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261500	NM_018045.8(BSDC1):c.585T>A (p.His195Gln)	BSDC1 (H100Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240420	NM_018045.8(BSDC1):c.807G>T (p.Glu269Asp)	BSDC1 (E269D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205262	NM_018045.8(BSDC1):c.641G>A (p.Ser214Asn)	BSDC1 (S119N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	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 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 565084	GRCh37/hg19 1p35.1(chr1:32608682-32953541)x3	FAM229A, DCDC2B +13 more	Copy number gain	not provided	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
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 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 40