ClinVar for Gene (Select 765) - ClinVar

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

Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262592	NM_001215.4(CA6):c.56A>T (p.His19Leu)	CA6 (H19L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262591	NM_001215.4(CA6):c.38T>C (p.Leu13Pro)	CA6 (L13P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3136149	NM_001215.4(CA6):c.806T>C (p.Leu269Pro)	CA6 (L141P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136148	NM_001215.4(CA6):c.730G>T (p.Val244Phe)	CA6 (V184F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136147	NM_001215.4(CA6):c.682G>A (p.Val228Ile)	CA6 (V100I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136146	NM_001215.4(CA6):c.601G>A (p.Val201Ile)	CA6 (V141I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136145	NM_001215.4(CA6):c.20T>C (p.Leu7Pro)	CA6 (L7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136144	NM_001215.4(CA6):c.169G>T (p.Val57Leu)	CA6 (V57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136143	NM_001215.4(CA6):c.151A>G (p.Asn51Asp)	CA6 (N51D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
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 2543077	NM_001215.4(CA6):c.382G>A (p.Val128Met)	CA6 (V68M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474254	NM_001215.4(CA6):c.727C>G (p.Gln243Glu)	CA6 (Q183E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2406968	NM_001215.4(CA6):c.421C>A (p.His141Asn)	CA6 (H13N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366258	NM_001215.4(CA6):c.176A>G (p.Tyr59Cys)	CA6 (Y59C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361284	NM_001215.4(CA6):c.481G>A (p.Val161Ile)	CA6 (V101I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359996	NM_001215.4(CA6):c.337C>T (p.His113Tyr)	CA6 (H113Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328550	NM_001215.4(CA6):c.40G>A (p.Gly14Ser)	CA6 (G14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305302	NM_001215.4(CA6):c.329T>A (p.Met110Lys)	CA6 (M110K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281485	NM_001215.4(CA6):c.850A>G (p.Thr284Ala)	CA6 (T156A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249328	NM_001215.4(CA6):c.140A>G (p.Gln47Arg)	CA6 (Q47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807831	GRCh37/hg19 1p36.23-36.22(chr1:8473813-9852687)x1	CA6, CLSTN1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980397	GRCh37/hg19 1p36.23(chr1:8869809-9115610)x3	ENO1, CA6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 814052	GRCh37/hg19 1p36.23(chr1:8850514-9092079)x3	ENO1, SLC2A7 +3 more	Copy number gain	not provided	GUncertain significance
Select item 784928	NM_001215.4(CA6):c.210C>T (p.Gly70=)	CA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 687559	GRCh37/hg19 1p36.23(chr1:8850514-9094343)x3	CA6, ENO1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686112	GRCh37/hg19 1p36.23-36.22(chr1:8698108-9266627)x3	CA6, ENO1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 565072	GRCh37/hg19 1p36.23(chr1:8986476-9043357)x1	CA6	Copy number loss	not provided	GUncertain significance
Select item 565071	GRCh37/hg19 1p36.23-36.22(chr1:7391956-9775929)x1	RERE, SLC45A1 +19 more	Copy number loss	not provided	GPathogenic
Select item 565070	GRCh37/hg19 1p36.23-36.22(chr1:7331314-9427796)x1	SLC2A5, PER3 +16 more	Copy number loss	not provided	GPathogenic
Select item 442515	GRCh37/hg19 1p36.23-36.22(chr1:8855705-9389530)x1	CA6, ENO1 +8 more	Copy number loss	See cases	GLikely benign
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 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 253358	GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	AGTRAP, DISP3 +56 more	Copy number gain	See cases	GLikely pathogenic
Select item 252976	GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	ACAP3, ACOT7 +162 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155133	GRCh38/hg38 1p36.23-36.22(chr1:8819278-9634691)x3	CA6, ENO1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	LRRC47, MEGF6 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929302, LOC129929303 +577 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 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

Links from Gene

Items: 65