30464[HGNC] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 150535	GRCh38/hg38 19p13.2(chr19:7723086-7883268)x3	CD209, CLEC4G +12 more	Copy number gain	See cases	GLikely benign
Select item 2608013	NM_001159944.3(EVI5L):c.68C>T (p.Pro23Leu)	EVI5L (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276677	NM_001159944.3(EVI5L):c.151G>A (p.Asp51Asn)	EVI5L (D51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090859	NM_001159944.3(EVI5L):c.254A>G (p.Asp85Gly)	EVI5L (D85G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292060	NM_001159944.3(EVI5L):c.275G>A (p.Arg92Gln)	EVI5L (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276675	NM_001159944.3(EVI5L):c.371T>C (p.Val124Ala)	EVI5L (V124A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250392	NM_001159944.3(EVI5L):c.391G>T (p.Ala131Ser)	EVI5L (A131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243497	NM_001159944.3(EVI5L):c.464G>A (p.Arg155His)	EVI5L (R155H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237492	NM_001159944.3(EVI5L):c.785G>A (p.Arg262His)	EVI5L (R262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348504	NM_001159944.3(EVI5L):c.862G>A (p.Val288Ile)	EVI5L (V288I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604816	NM_001159944.3(EVI5L):c.865G>A (p.Ala289Thr)	EVI5L (A289T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090854	NM_001159944.3(EVI5L):c.1313G>A (p.Ser438Asn)	EVI5L (S427N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326532	NM_001159944.3(EVI5L):c.1402G>A (p.Val468Met)	EVI5L (V457M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224414	NM_001159944.3(EVI5L):c.1408C>T (p.His470Tyr)	EVI5L (H470Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597379	NM_001159944.3(EVI5L):c.1420G>A (p.Glu474Lys)	EVI5L (E474K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595066	NM_001159944.3(EVI5L):c.1448C>T (p.Thr483Met)	EVI5L (T472M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624267	NM_001159944.3(EVI5L):c.1492G>A (p.Asp498Asn)	EVI5L (D487N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611274	NM_001159944.3(EVI5L):c.1606C>T (p.Leu536Phe)	EVI5L (L525F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090855	NM_001159944.3(EVI5L):c.1722G>A (p.Met574Ile)	EVI5L (M574I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090856	NM_001159944.3(EVI5L):c.1763G>A (p.Arg588His)	EVI5L (R588H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484024	NM_001159944.3(EVI5L):c.1814G>T (p.Arg605Leu)	EVI5L (R594L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292482	NM_001159944.3(EVI5L):c.1849G>A (p.Ala617Thr)	EVI5L (A606T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481989	NM_001159944.3(EVI5L):c.1949G>T (p.Ser650Ile)	EVI5L (S650I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476617	NM_001159944.3(EVI5L):c.2000C>T (p.Ala667Val)	EVI5L (A656V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556351	NM_001159944.3(EVI5L):c.2119A>G (p.Ile707Val)	EVI5L (I696V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090857	NM_001159944.3(EVI5L):c.2168T>G (p.Phe723Cys)	EVI5L (F712C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373323	NM_001159944.3(EVI5L):c.2195T>C (p.Leu732Pro)	EVI5L (L721P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246480	NM_001159944.3(EVI5L):c.2257G>A (p.Val753Ile)	EVI5L (V753I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090858	NM_001159944.3(EVI5L):c.2374G>A (p.Ala792Thr)	EVI5L (A792T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244812	NM_001159944.3(EVI5L):c.2379T>A (p.Asp793Glu)	EVI5L (D793E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276674	NM_001159944.3(EVI5L):c.2392C>T (p.Pro798Ser)	EVI5L (P798S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 831037	NC_000019.9:g.(?_7587617)_(8373194_?)dup	PCP2, PET100 +24 more	Duplication	Familial hemophagocytic lymphohistiocytosis 5	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 40