ClinVar for Gene (Select 118490) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296468	NM_001024593.2(MSS51):c.595G>A (p.Asp199Asn)	MSS51 (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296467	NM_001024593.2(MSS51):c.745G>A (p.Gly249Arg)	MSS51 (G249R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296465	NM_001024593.2(MSS51):c.448C>A (p.Gln150Lys)	MSS51 (Q150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296464	NM_001024593.2(MSS51):c.313T>C (p.Cys105Arg)	MSS51 (C105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296463	NM_001024593.2(MSS51):c.1303G>A (p.Ala435Thr)	MSS51 (A435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296462	NM_001024593.2(MSS51):c.1126C>T (p.Arg376Cys)	MSS51 (R376C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212426	NM_001024593.2(MSS51):c.995A>G (p.Tyr332Cys)	MSS51 (Y332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212408	NM_001024593.2(MSS51):c.808G>T (p.Ala270Ser)	MSS51 (A270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212402	NM_001024593.2(MSS51):c.737T>C (p.Leu246Pro)	MSS51 (L246P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212393	NM_001024593.2(MSS51):c.659G>A (p.Arg220Gln)	MSS51 (R220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212386	NM_001024593.2(MSS51):c.558C>G (p.Asp186Glu)	MSS51 (D186E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212382	NM_001024593.2(MSS51):c.457C>T (p.Arg153Cys)	MSS51 (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212361	NM_001024593.2(MSS51):c.1328G>A (p.Ser443Asn)	MSS51 (S443N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212345	NM_001024593.2(MSS51):c.1058C>T (p.Ala353Val)	MSS51 (A353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2622521	NM_001024593.2(MSS51):c.398G>A (p.Cys133Tyr)	MSS51 (C133Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616258	NM_001024593.2(MSS51):c.1156G>A (p.Val386Ile)	MSS51 (V386I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2561430	NM_001024593.2(MSS51):c.1150A>G (p.Ile384Val)	MSS51 (I384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558018	NM_001024593.2(MSS51):c.597T>G (p.Asp199Glu)	MSS51 (D199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550380	NM_001024593.2(MSS51):c.181A>G (p.Ile61Val)	MSS51 (I61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546081	NM_001024593.2(MSS51):c.674C>G (p.Pro225Arg)	MSS51 (P225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526865	NM_001024593.2(MSS51):c.949C>T (p.Pro317Ser)	MSS51 (P317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481312	NM_001024593.2(MSS51):c.1342G>A (p.Asp448Asn)	MSS51 (D448N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473102	NM_001024593.2(MSS51):c.761G>A (p.Gly254Glu)	MSS51 (G254E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458442	NM_001024593.2(MSS51):c.582G>C (p.Lys194Asn)	MSS51 (K194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410575	NM_001024593.2(MSS51):c.986G>A (p.Arg329Lys)	MSS51 (R329K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2402579	NM_001024593.2(MSS51):c.724C>T (p.Arg242Trp)	MSS51 (R242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397008	NM_001024593.2(MSS51):c.1174T>G (p.Leu392Val)	MSS51 (L392V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391364	NM_001024593.2(MSS51):c.266G>A (p.Arg89Gln)	MSS51 (R89Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336136	NM_001024593.2(MSS51):c.23G>A (p.Arg8Gln)	MSS51 (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314677	NM_001024593.2(MSS51):c.1321C>T (p.Leu441Phe)	MSS51 (L441F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302787	NM_001024593.2(MSS51):c.871C>T (p.Pro291Ser)	MSS51 (P291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293960	NM_001024593.2(MSS51):c.512T>C (p.Val171Ala)	MSS51 (V171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248075	NM_001024593.2(MSS51):c.1042C>T (p.Pro348Ser)	MSS51 (P348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241442	NM_001024593.2(MSS51):c.836G>A (p.Arg279His)	MSS51 (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217971	NM_001024593.2(MSS51):c.365G>C (p.Arg122Pro)	MSS51 (R122P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527593	GRCh37/hg19 10q22.2(chr10:75089777-75359997)	ANXA7, CFAP70 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1098646	NM_001024593.2(MSS51):c.378-2A>G	MSS51	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442888	GRCh37/hg19 10q22.2(chr10:75179409-76009153)x3	ADK, AGAP5 +15 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 53