"Ambry Genetics"[submitter] AND "LOC101927066"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2507452	NM_016134.4(CPQ):c.967C>T (p.Arg323Cys)	CPQ, LOC101927066 (R323C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511060	NM_016134.4(CPQ):c.1100C>A (p.Thr367Asn)	CPQ, LOC101927066 (T367N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603068	NM_016134.4(CPQ):c.1163T>C (p.Val388Ala)	CPQ, LOC101927066 (V388A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269258	NM_016134.4(CPQ):c.1167G>A (p.Met389Ile)	CPQ, LOC101927066 (M389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253880	NM_016134.4(CPQ):c.1186A>G (p.Asn396Asp)	CPQ, LOC101927066 (N396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076838	NM_016134.4(CPQ):c.1196A>G (p.Gln399Arg)	CPQ, LOC101927066 (Q399R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336464	NM_016134.4(CPQ):c.1231T>A (p.Phe411Ile)	CPQ, LOC101927066 (F411I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272285	NM_016134.4(CPQ):c.1235G>C (p.Trp412Ser)	CPQ, LOC101927066 (W412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507424	NM_016134.4(CPQ):c.1294T>C (p.Phe432Leu)	CPQ, LOC101927066 (F432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296325	NM_033512.3(TSPYL5):c.1237G>A (p.Val413Met)	LOC101927066, TSPYL5 (V413M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557160	NM_033512.3(TSPYL5):c.1162C>T (p.Arg388Cys)	LOC101927066, TSPYL5 (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183904	NM_033512.3(TSPYL5):c.1156G>A (p.Gly386Arg)	LOC101927066, TSPYL5 (G386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359550	NM_033512.3(TSPYL5):c.1042C>T (p.Arg348Cys)	LOC101927066, TSPYL5 (R348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329685	NM_033512.3(TSPYL5):c.1020C>A (p.Ser340Arg)	LOC101927066, TSPYL5 (S340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470664	NM_033512.3(TSPYL5):c.977C>T (p.Thr326Ile)	LOC101927066, TSPYL5 (T326I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329687	NM_033512.3(TSPYL5):c.814G>C (p.Glu272Gln)	LOC101927066, TSPYL5 (E272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183909	NM_033512.3(TSPYL5):c.760C>A (p.Gln254Lys)	LOC101927066, TSPYL5 (Q254K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288927	NM_033512.3(TSPYL5):c.741T>G (p.Asn247Lys)	LOC101927066, TSPYL5 (N247K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183908	NM_033512.3(TSPYL5):c.686A>G (p.Lys229Arg)	LOC101927066, TSPYL5 (K229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183907	NM_033512.3(TSPYL5):c.602G>A (p.Ser201Asn)	LOC101927066, TSPYL5 (S201N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290385	NM_033512.3(TSPYL5):c.593C>T (p.Thr198Met)	LOC101927066, TSPYL5 (T198M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329688	NM_033512.3(TSPYL5):c.575G>T (p.Gly192Val)	LOC101927066, TSPYL5 (G192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329686	NM_033512.3(TSPYL5):c.517G>T (p.Ala173Ser)	LOC101927066, TSPYL5 (A173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342507	NM_033512.3(TSPYL5):c.505A>G (p.Lys169Glu)	LOC101927066, TSPYL5 (K169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318715	NM_033512.3(TSPYL5):c.449C>G (p.Pro150Arg)	LOC101927066, TSPYL5 (P150R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183906	NM_033512.3(TSPYL5):c.440A>G (p.Lys147Arg)	LOC101927066, TSPYL5 (K147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260502	NM_033512.3(TSPYL5):c.436G>C (p.Gly146Arg)	LOC101927066, TSPYL5 (G146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250117	NM_033512.3(TSPYL5):c.409C>G (p.Arg137Gly)	LOC101927066, TSPYL5 (R137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213614	NM_033512.3(TSPYL5):c.220G>A (p.Gly74Arg)	LOC101927066, TSPYL5 (G74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478390	NM_033512.3(TSPYL5):c.214C>T (p.Arg72Trp)	LOC101927066, TSPYL5 (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233311	NM_033512.3(TSPYL5):c.67G>C (p.Ala23Pro)	LOC101927066, TSPYL5 (A23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183905	NM_033512.3(TSPYL5):c.32C>T (p.Ser11Phe)	LOC101927066, TSPYL5 (S11F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 32