Related gene-specific medical variations for Gene (Select 388951) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329695	NM_001003937.3(TSPYL6):c.514G>T (p.Asp172Tyr)	ACYP2, TSPYL6 (D172Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329694	NM_001003937.3(TSPYL6):c.365G>C (p.Gly122Ala)	ACYP2, TSPYL6 (G122A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329693	NM_001003937.3(TSPYL6):c.505G>C (p.Glu169Gln)	ACYP2, TSPYL6 (E169Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329692	NM_001003937.3(TSPYL6):c.1184T>A (p.Val395Glu)	ACYP2, TSPYL6 (V395E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329691	NM_001003937.3(TSPYL6):c.511A>C (p.Met171Leu)	ACYP2, TSPYL6 (M171L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329690	NM_001003937.3(TSPYL6):c.133G>C (p.Glu45Gln)	ACYP2, TSPYL6 (E45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329689	NM_001003937.3(TSPYL6):c.359C>T (p.Thr120Met)	ACYP2, TSPYL6 (T120M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183919	NM_001003937.3(TSPYL6):c.990G>T (p.Trp330Cys)	ACYP2, TSPYL6 (W330C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183918	NM_001003937.3(TSPYL6):c.955G>T (p.Gly319Cys)	ACYP2, TSPYL6 (G319C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183917	NM_001003937.3(TSPYL6):c.898A>G (p.Arg300Gly)	ACYP2, TSPYL6 (R300G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183916	NM_001003937.3(TSPYL6):c.885G>C (p.Lys295Asn)	ACYP2, TSPYL6 (K295N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183915	NM_001003937.3(TSPYL6):c.851A>T (p.Glu284Val)	ACYP2, TSPYL6 (E284V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183914	NM_001003937.3(TSPYL6):c.816G>C (p.Glu272Asp)	ACYP2, TSPYL6 (E272D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183913	NM_001003937.3(TSPYL6):c.795G>C (p.Met265Ile)	ACYP2, TSPYL6 (M265I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183912	NM_001003937.3(TSPYL6):c.181C>T (p.Pro61Ser)	ACYP2, TSPYL6 (P61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183910	NM_001003937.3(TSPYL6):c.103G>A (p.Val35Ile)	ACYP2, TSPYL6 (V35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616027	NM_001003937.3(TSPYL6):c.263A>G (p.Gln88Arg)	ACYP2, TSPYL6 (Q88R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612772	NM_001003937.3(TSPYL6):c.142G>C (p.Val48Leu)	ACYP2, TSPYL6 (V48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607134	NM_001003937.3(TSPYL6):c.583C>T (p.Pro195Ser)	ACYP2, TSPYL6 (P195S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602767	NM_001003937.3(TSPYL6):c.428C>T (p.Ala143Val)	ACYP2, TSPYL6 (A143V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599317	NM_001003937.3(TSPYL6):c.578C>T (p.Pro193Leu)	ACYP2, TSPYL6 (P193L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598360	NM_001003937.3(TSPYL6):c.401C>G (p.Ala134Gly)	ACYP2, TSPYL6 (A134G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591860	NM_001003937.3(TSPYL6):c.1022A>G (p.His341Arg)	ACYP2, TSPYL6 (H341R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537254	NM_001003937.3(TSPYL6):c.1169C>T (p.Ala390Val)	ACYP2, TSPYL6 (A390V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521839	NM_001003937.3(TSPYL6):c.536C>T (p.Ala179Val)	ACYP2, TSPYL6 (A179V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490826	NM_001003937.3(TSPYL6):c.995G>A (p.Arg332Gln)	ACYP2, TSPYL6 (R332Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2488080	NM_001003937.3(TSPYL6):c.552C>G (p.Asn184Lys)	ACYP2, TSPYL6 (N184K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2405794	NM_001003937.3(TSPYL6):c.376G>A (p.Glu126Lys)	ACYP2, TSPYL6 (E126K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396366	NM_001003937.3(TSPYL6):c.634C>G (p.Leu212Val)	ACYP2, TSPYL6 (L212V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370245	NM_001003937.3(TSPYL6):c.358A>G (p.Thr120Ala)	ACYP2, TSPYL6 (T120A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361758	NM_001003937.3(TSPYL6):c.217A>G (p.Ile73Val)	ACYP2, TSPYL6 (I73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341222	NM_001003937.3(TSPYL6):c.408G>T (p.Arg136Ser)	ACYP2, TSPYL6 (R136S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337921	NM_001003937.3(TSPYL6):c.260G>A (p.Gly87Glu)	ACYP2, TSPYL6 (G87E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303543	NM_001003937.3(TSPYL6):c.843A>C (p.Glu281Asp)	ACYP2, TSPYL6 (E281D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248203	NM_001003937.3(TSPYL6):c.140T>A (p.Ile47Asn)	ACYP2, TSPYL6 (I47N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210513	NM_001003937.3(TSPYL6):c.110C>T (p.Ala37Val)	ACYP2, TSPYL6 (A37V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790501	NM_001003937.3(TSPYL6):c.2T>C (p.Met1Thr)	ACYP2, TSPYL6 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 787230	NM_001003937.3(TSPYL6):c.179C>T (p.Ala60Val)	ACYP2, TSPYL6 (A60V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 787229	NM_001003937.3(TSPYL6):c.300G>C (p.Ala100=)	ACYP2, TSPYL6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 786482	NM_001003937.3(TSPYL6):c.11C>T (p.Pro4Leu)	ACYP2, TSPYL6 (P4L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 775171	NM_001003937.3(TSPYL6):c.60G>A (p.Pro20=)	ACYP2, TSPYL6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 775170	NM_001003937.3(TSPYL6):c.312G>T (p.Ser104=)	ACYP2, TSPYL6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 773483	NM_001003937.3(TSPYL6):c.1A>G (p.Met1Val)	ACYP2, TSPYL6 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 773482	NM_001003937.3(TSPYL6):c.288G>C (p.Glu96Asp)	ACYP2, TSPYL6 (E96D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 773481	NM_001003937.3(TSPYL6):c.447C>T (p.Asp149=)	ACYP2, TSPYL6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 767798	NM_001003937.3(TSPYL6):c.210T>C (p.Thr70=)	ACYP2, TSPYL6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 767797	NM_001003937.3(TSPYL6):c.347C>T (p.Pro116Leu)	ACYP2, TSPYL6 (P116L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 767796	NM_001003937.3(TSPYL6):c.568GGGCCC[2] (p.188GP[3])	ACYP2, TSPYL6	Microsatellite (inframe_deletion +1 more)	not provided	GBenign
Select item 752921	NM_001003937.3(TSPYL6):c.39C>T (p.Leu13=)	ACYP2, TSPYL6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731671	NM_001003937.3(TSPYL6):c.152C>T (p.Pro51Leu)	ACYP2, TSPYL6 (P51L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Links from Gene

Items: 50