ClinVar for Gene (Select 58476) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248260	NC_000020.10:g.(?_31368130)_(34287210_?)del	ACSS2, ACTL10 +51 more	Deletion	Glutathione synthetase deficiency with 5-oxoprolinuria	GPathogenic
Select item 3181454	NM_021202.3(TP53INP2):c.565G>T (p.Val189Leu)	TP53INP2 (V189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181453	NM_021202.3(TP53INP2):c.563C>A (p.Ala188Glu)	TP53INP2 (A188E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181452	NM_021202.3(TP53INP2):c.518A>G (p.Gln173Arg)	LOC130065732, TP53INP2 (Q173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181450	NM_021202.3(TP53INP2):c.47C>T (p.Pro16Leu)	LOC125387262, TP53INP2 (P16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181449	NM_021202.3(TP53INP2):c.436G>A (p.Glu146Lys)	LOC130065732, TP53INP2 (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181448	NM_021202.3(TP53INP2):c.316A>T (p.Met106Leu)	LOC130065730, TP53INP2 (M106L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181447	NM_021202.3(TP53INP2):c.284C>G (p.Pro95Arg)	LOC130065730, TP53INP2 (P95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181446	NM_021202.3(TP53INP2):c.202G>A (p.Asp68Asn)	LOC130065730, TP53INP2 (D68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181445	NM_021202.3(TP53INP2):c.145A>G (p.Ser49Gly)	LOC130065730, TP53INP2 (S49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181444	NM_021202.3(TP53INP2):c.106C>G (p.Leu36Val)	TP53INP2 (L36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541552	NM_021202.3(TP53INP2):c.440C>T (p.Pro147Leu)	LOC130065732, TP53INP2 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530745	NM_021202.3(TP53INP2):c.427G>A (p.Ala143Thr)	LOC130065732, TP53INP2 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368393	NM_021202.3(TP53INP2):c.146G>A (p.Ser49Asn)	LOC130065730, TP53INP2 (S49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362012	NM_021202.3(TP53INP2):c.205G>C (p.Glu69Gln)	LOC130065730, TP53INP2 (E69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354985	NM_021202.3(TP53INP2):c.433C>G (p.Arg145Gly)	LOC130065732, TP53INP2 (R145G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351351	NM_021202.3(TP53INP2):c.397G>A (p.Gly133Ser)	TP53INP2 (G133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346124	NM_021202.3(TP53INP2):c.260G>C (p.Gly87Ala)	LOC130065730, TP53INP2 (G87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342536	NM_021202.3(TP53INP2):c.466C>G (p.Leu156Val)	LOC130065732, TP53INP2 (L156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330244	NM_021202.3(TP53INP2):c.49G>C (p.Glu17Gln)	LOC125387262, TP53INP2 (E17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323708	NM_021202.3(TP53INP2):c.431G>A (p.Arg144His)	LOC130065732, TP53INP2 (R144H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301160	NM_021202.3(TP53INP2):c.76G>T (p.Val26Leu)	LOC125387262, TP53INP2 (V26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242454	NM_021202.3(TP53INP2):c.560A>T (p.Lys187Met)	TP53INP2 (K187M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 584348	NC_000020.10:g.(?_31996293)_(33338342_?)del	ASIP, C20orf144 +17 more	Deletion	Long QT syndrome	GUncertain significance
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	MAP1LC3A, MIR499A +25 more	Deletion	Long QT syndrome	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 37