ClinVar for Gene (Select 8537) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260600	NM_001366298.2(BCAS1):c.154A>G (p.Ile52Val)	BCAS1 (I52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260599	NM_001366298.2(BCAS1):c.1674G>T (p.Lys558Asn)	BCAS1 (K421N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260598	NM_001366298.2(BCAS1):c.134T>C (p.Leu45Ser)	BCAS1 (L45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260597	NM_001366298.2(BCAS1):c.769G>T (p.Ala257Ser)	BCAS1 (A257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3133309	NM_001366298.2(BCAS1):c.905C>G (p.Thr302Arg)	BCAS1 (T302R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133307	NM_001366298.2(BCAS1):c.820G>A (p.Asp274Asn)	BCAS1 (D274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133306	NM_001366298.2(BCAS1):c.317G>T (p.Arg106Leu)	BCAS1 (R106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133305	NM_001366298.2(BCAS1):c.292A>T (p.Met98Leu)	BCAS1 (M98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133304	NM_001366298.2(BCAS1):c.193G>A (p.Glu65Lys)	BCAS1 (E65K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133302	NM_001366298.2(BCAS1):c.1799G>A (p.Gly600Asp)	BCAS1 (G541D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133301	NM_001366298.2(BCAS1):c.1588G>C (p.Glu530Gln)	BCAS1 (E463Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133299	NM_001366298.2(BCAS1):c.1393G>A (p.Glu465Lys)	BCAS1 (E406K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133298	NM_001366298.2(BCAS1):c.1387C>A (p.Leu463Ile)	BCAS1 (L404I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3133297	NM_001366298.2(BCAS1):c.1276T>C (p.Ser426Pro)	BCAS1 (S426P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685647	GRCh37/hg19 20q13.2(chr20:51192560-53918272)x1	BCAS1, CYP24A1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2552030	NM_001366298.2(BCAS1):c.1099A>C (p.Lys367Gln)	BCAS1 (K367Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533011	NM_001366298.2(BCAS1):c.851A>G (p.Asn284Ser)	BCAS1 (N284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523984	NM_001366298.2(BCAS1):c.317G>A (p.Arg106His)	BCAS1 (R106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493611	NM_001366298.2(BCAS1):c.1081A>G (p.Thr361Ala)	BCAS1 (T316A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479800	NM_001366298.2(BCAS1):c.865A>G (p.Ser289Gly)	BCAS1 (S289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455512	NM_001366298.2(BCAS1):c.106G>C (p.Val36Leu)	BCAS1 (V36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403910	NM_001366298.2(BCAS1):c.1469C>T (p.Ala490Val)	BCAS1 (A490V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399393	NM_001366298.2(BCAS1):c.1583C>T (p.Pro528Leu)	BCAS1 (P461L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397554	NM_001366298.2(BCAS1):c.607G>A (p.Gly203Arg)	BCAS1 (G203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385159	NM_001366298.2(BCAS1):c.499G>A (p.Ala167Thr)	BCAS1 (A167T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360922	NM_001366298.2(BCAS1):c.1832T>C (p.Leu611Ser)	BCAS1 (L552S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352384	NM_001366298.2(BCAS1):c.179C>G (p.Ala60Gly)	BCAS1 (A60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327119	NM_001366298.2(BCAS1):c.158G>A (p.Ser53Asn)	BCAS1 (S53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292043	NM_001366298.2(BCAS1):c.397G>C (p.Asp133His)	BCAS1 (D133H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264864	NM_001366298.2(BCAS1):c.859A>G (p.Ile287Val)	BCAS1 (I287V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242042	NM_001366298.2(BCAS1):c.1222A>C (p.Lys408Gln)	BCAS1 (K363Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236029	NM_001366298.2(BCAS1):c.1303G>C (p.Gly435Arg)	BCAS1 (G390R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232353	NM_001366298.2(BCAS1):c.1753G>C (p.Asp585His)	BCAS1 (D448H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229531	NM_001366298.2(BCAS1):c.1825C>T (p.Arg609Trp)	BCAS1 (R542W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225357	NM_001366298.2(BCAS1):c.104T>G (p.Val35Gly)	BCAS1 (V35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224464	NM_001366298.2(BCAS1):c.1746G>C (p.Gln582His)	BCAS1 (Q445H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210192	NM_001366298.2(BCAS1):c.1324T>G (p.Cys442Gly)	BCAS1 (C397G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809070	GRCh37/hg19 20q13.2-13.31(chr20:52517925-55402822)x3	AURKA, BCAS1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 789127	NM_001366298.2(BCAS1):c.200C>T (p.Thr67Met)	BCAS1 (T67M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789126	NM_001366298.2(BCAS1):c.512C>T (p.Thr171Met)	BCAS1 (T171M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787494	NM_001366298.2(BCAS1):c.167C>T (p.Thr56Met)	BCAS1 (T56M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777585	NM_001366298.2(BCAS1):c.1734G>A (p.Thr578=)	BCAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770303	NM_001366298.2(BCAS1):c.1557A>G (p.Ser519=)	BCAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769096	NM_001366298.2(BCAS1):c.540A>G (p.Ala180=)	BCAS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710981	NM_001366298.2(BCAS1):c.1486-10G>A	BCAS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59219	GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3	ADNP, ADNP-AS1 +199 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54