ClinVar for Gene (Select 6738) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155582	NM_001173524.2(RO60):c.953G>A (p.Arg318His)	RO60 (R318H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155581	NM_001173524.2(RO60):c.86A>T (p.Asp29Val)	RO60 (D29V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155580	NM_001173524.2(RO60):c.85G>C (p.Asp29His)	RO60 (D29H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155579	NM_001173524.2(RO60):c.836C>G (p.Thr279Ser)	RO60 (T279S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155578	NM_001173524.2(RO60):c.746A>G (p.Glu249Gly)	RO60 (E249G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155577	NM_001173524.2(RO60):c.710G>T (p.Arg237Leu)	RO60 (R237L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155575	NM_001173524.2(RO60):c.644A>C (p.Glu215Ala)	RO60 (E215A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155574	NM_001173524.2(RO60):c.568C>G (p.Pro190Ala)	RO60 (P190A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155573	NM_001173524.2(RO60):c.310G>A (p.Asp104Asn)	RO60 (D104N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155572	NM_001173524.2(RO60):c.157T>A (p.Leu53Met)	RO60 (L53M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155571	NM_001173524.2(RO60):c.1561G>A (p.Gly521Ser)	RO60 (G246S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155570	NM_001173524.2(RO60):c.1492G>C (p.Val498Leu)	RO60 (V498L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155569	NM_001173524.2(RO60):c.1439C>T (p.Ala480Val)	RO60 (A480V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155568	NM_001173524.2(RO60):c.1403C>T (p.Thr468Ile)	RO60 (T193I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155567	NM_001173524.2(RO60):c.1382C>T (p.Ala461Val)	RO60 (A461V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155566	NM_001173524.2(RO60):c.134C>T (p.Thr45Ile)	RO60 (T45I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155565	NM_001173524.2(RO60):c.1343C>G (p.Ser448Cys)	RO60 (S173C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155564	NM_001173524.2(RO60):c.1258G>C (p.Val420Leu)	RO60 (V145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155563	NM_001173524.2(RO60):c.1256T>C (p.Met419Thr)	RO60 (M144T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155562	NM_001173524.2(RO60):c.1214G>T (p.Arg405Leu)	RO60 (R405L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155561	NM_001173524.2(RO60):c.1007G>A (p.Gly336Asp)	RO60 (G336D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639672	NM_001173524.2(RO60):c.1317G>A (p.Gln439=)	RO60	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639671	NM_001173524.2(RO60):c.1030C>T (p.Arg344Cys)	RO60 (R344C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2593944	NM_001173524.2(RO60):c.589A>G (p.Ile197Val)	RO60 (I197V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560840	NM_001173524.2(RO60):c.759A>C (p.Leu253Phe)	RO60 (L253F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553732	NM_001173524.2(RO60):c.880C>T (p.Leu294Phe)	RO60 (L294F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543138	NM_001173524.2(RO60):c.402T>G (p.Asp134Glu)	RO60 (D134E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511705	NM_001173524.2(RO60):c.830C>T (p.Pro277Leu)	RO60 (P277L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488792	NM_001173524.2(RO60):c.24G>A (p.Met8Ile)	RO60 (M8I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483973	NM_001173524.2(RO60):c.1379C>T (p.Pro460Leu)	RO60 (P460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478758	NM_001173524.2(RO60):c.373C>G (p.Leu125Val)	RO60 (L125V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527481	GRCh37/hg19 1q31.2(chr1:192731793-193391298)	B3GALT2, CDC73 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 780292	NM_001173524.2(RO60):c.810G>A (p.Lys270=)	RO60	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 560081	Single allele	B3GALT2, CDC73 +53 more	Deletion	Parathyroid carcinoma +2 more	GPathogenic
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
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60078	GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1	B3GALT2, CDC73 +21 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51