ClinVar for Gene (Select 388951) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2423801	NC_000002.11:g.(?_54278075)_(55549848_?)dup	ACYP2, C2orf73 +8 more	Duplication	not provided	GUncertain significance
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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340729	GRCh37/hg19 2p16.2(chr2:54399993-54619472)x1	ACYP2, C2orf73 +1 more	Copy number loss	not provided	GLikely benign
Select item 1340202	GRCh37/hg19 2p16.2(chr2:54302737-54697589)x1	ACYP2, C2orf73 +2 more	Copy number loss	not provided	GUncertain significance
Select item 980982	GRCh37/hg19 2p16.2(chr2:54452330-54555076)x1	ACYP2, TSPYL6	Copy number loss	not provided	GLikely benign
Select item 814260	GRCh37/hg19 2p16.2(chr2:54063171-54808845)x3	TSPYL6, PSME4 +5 more	Copy number gain	not provided	GLikely benign
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
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	not provided	GPathogenic
Select item 562635	GRCh37/hg19 2p16.2-16.1(chr2:54079222-55328518)x3	GPR75, TSPYL6 +7 more	Copy number gain	not provided	GLikely benign
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442274	GRCh37/hg19 2p21-16.2(chr2:47361260-54934153)x1	ACYP2, ASB3 +25 more	Copy number loss	See cases	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 60