LOC130065730[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 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 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
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 2368393	NM_021202.3(TP53INP2):c.146G>A (p.Ser49Asn)	LOC130065730, TP53INP2 (S49N)	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 2362012	NM_021202.3(TP53INP2):c.205G>C (p.Glu69Gln)	LOC130065730, TP53INP2 (E69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328224	NM_021202.3(TP53INP2):c.213G>C (p.Trp71Cys)	LOC130065730, TP53INP2 (W71C)	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 3181447	NM_021202.3(TP53INP2):c.284C>G (p.Pro95Arg)	LOC130065730, TP53INP2 (P95R)	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 3328227	NM_021202.3(TP53INP2):c.365C>T (p.Pro122Leu)	LOC130065730, TP53INP2 (P122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance