LOC126862878[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2223197	NM_001017392.5(SUGP2):c.1018A>G (p.Thr340Ala)	LOC126862878, SUGP2 (T354A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172000	NM_001017392.5(SUGP2):c.958G>A (p.Asp320Asn)	LOC126862878, SUGP2 (D334N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171999	NM_001017392.5(SUGP2):c.955A>G (p.Ile319Val)	LOC126862878, SUGP2 (I333V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3171998	NM_001017392.5(SUGP2):c.951C>G (p.Asp317Glu)	LOC126862878, SUGP2 (D331E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285606	NM_001017392.5(SUGP2):c.944G>A (p.Ser315Asn)	LOC126862878, SUGP2 (S329N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536189	NM_001017392.5(SUGP2):c.931A>G (p.Arg311Gly)	LOC126862878, SUGP2 (R311G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269580	NM_001017392.5(SUGP2):c.923G>A (p.Arg308Gln)	LOC126862878, SUGP2 (R322Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334473	NM_001017392.5(SUGP2):c.827C>T (p.Pro276Leu)	LOC126862878, SUGP2 (P276L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289423	NM_001017392.5(SUGP2):c.764T>A (p.Ile255Lys)	LOC126862878, SUGP2 (I255K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400732	NM_001017392.5(SUGP2):c.641G>A (p.Arg214Gln)	LOC126862878, SUGP2 (R214Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171997	NM_001017392.5(SUGP2):c.566G>A (p.Arg189Gln)	LOC126862878, SUGP2 (R189Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335773	NM_001017392.5(SUGP2):c.555G>T (p.Glu185Asp)	LOC126862878, SUGP2 (E185D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171996	NM_001017392.5(SUGP2):c.521G>A (p.Gly174Glu)	LOC126862878, SUGP2 (G174E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171995	NM_001017392.5(SUGP2):c.394C>T (p.Arg132Cys)	LOC126862878, SUGP2 (R132C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613446	NM_001017392.5(SUGP2):c.319T>C (p.Cys107Arg)	LOC126862878, SUGP2 (C107R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214318	NM_001017392.5(SUGP2):c.244A>C (p.Ser82Arg)	LOC126862878, SUGP2 (S96R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492891	NM_001017392.5(SUGP2):c.186A>C (p.Arg62Ser)	LOC126862878, SUGP2 (R62S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386474	NM_001017392.5(SUGP2):c.156G>C (p.Glu52Asp)	LOC126862878, SUGP2 (E66D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3171985	NM_001017392.5(SUGP2):c.143G>T (p.Arg48Ile)	LOC126862878, SUGP2 (R48I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533682	NM_001017392.5(SUGP2):c.124C>A (p.Leu42Ile)	LOC126862878, SUGP2 (L42I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 24