MSS51[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3212361	NM_001024593.2(MSS51):c.1328G>A (p.Ser443Asn)	MSS51 (S443N)	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 3296463	NM_001024593.2(MSS51):c.1303G>A (p.Ala435Thr)	MSS51 (A435T)	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 2616258	NM_001024593.2(MSS51):c.1156G>A (p.Val386Ile)	MSS51 (V386I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3296462	NM_001024593.2(MSS51):c.1126C>T (p.Arg376Cys)	MSS51 (R376C)	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 2248075	NM_001024593.2(MSS51):c.1042C>T (p.Pro348Ser)	MSS51 (P348S)	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 2410575	NM_001024593.2(MSS51):c.986G>A (p.Arg329Lys)	MSS51 (R329K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2302787	NM_001024593.2(MSS51):c.871C>T (p.Pro291Ser)	MSS51 (P291S)	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 3212408	NM_001024593.2(MSS51):c.808G>T (p.Ala270Ser)	MSS51 (A270S)	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 3296467	NM_001024593.2(MSS51):c.745G>A (p.Gly249Arg)	MSS51 (G249R)	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 2402579	NM_001024593.2(MSS51):c.724C>T (p.Arg242Trp)	MSS51 (R242W)	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 3212393	NM_001024593.2(MSS51):c.659G>A (p.Arg220Gln)	MSS51 (R220Q)	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 3296468	NM_001024593.2(MSS51):c.595G>A (p.Asp199Asn)	MSS51 (D199N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3212386	NM_001024593.2(MSS51):c.558C>G (p.Asp186Glu)	MSS51 (D186E)	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 3212382	NM_001024593.2(MSS51):c.457C>T (p.Arg153Cys)	MSS51 (R153C)	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 2622521	NM_001024593.2(MSS51):c.398G>A (p.Cys133Tyr)	MSS51 (C133Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098646	NM_001024593.2(MSS51):c.378-2A>G	MSS51	Single nucleotide variant (splice acceptor variant)	See cases	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 3296464	NM_001024593.2(MSS51):c.313T>C (p.Cys105Arg)	MSS51 (C105R)	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 2550380	NM_001024593.2(MSS51):c.181A>G (p.Ile61Val)	MSS51 (I61V)	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

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Items: 36