ClinVar for Gene (Select 388951) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 67

	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 2423801	NC_000002.11:g.(?_54278075)_(55549848_?)dup	ACYP2, CCDC88A +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	HAAO, HADHA +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	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 67