BSDC1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC112577491, LOC112577504 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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	ANGPTL7, C1orf127 +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)	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40