3491[HGNC] - ClinVar

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Items: 50

	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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 3090737	NM_014209.4(ETV2):c.52A>T (p.Asn18Tyr)	ETV2 (N18Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469399	NM_014209.4(ETV2):c.76G>A (p.Ala26Thr)	ETV2 (A26T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3276616	NM_014209.4(ETV2):c.98C>T (p.Pro33Leu)	ETV2 (P33L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3276612	NM_014209.4(ETV2):c.155G>A (p.Gly52Asp)	ETV2 (G52D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2277802	NM_014209.4(ETV2):c.170T>C (p.Leu57Pro)	ETV2 (L57P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2274953	NM_014209.4(ETV2):c.212A>T (p.His71Leu)	ETV2 (H71L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539435	NM_014209.4(ETV2):c.274A>G (p.Thr92Ala)	ETV2, LOC130064247 (T92A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2485768	NM_014209.4(ETV2):c.300C>G (p.Asp100Glu)	ETV2, LOC130064247 (D7E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090732	NM_014209.4(ETV2):c.317C>T (p.Ser106Leu)	ETV2, LOC130064247 (S106L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401214	NM_014209.4(ETV2):c.334G>A (p.Ala112Thr)	ETV2, LOC130064247 (A19T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1162784	NM_014209.4(ETV2):c.350del (p.Gly117fs)	ETV2, LOC130064247 (G117fs +1 more)	Deletion (frameshift variant +1 more)	Polydactyly +3 more	GLikely pathogenic
Select item 2320860	NM_014209.4(ETV2):c.359C>T (p.Pro120Leu)	ETV2, LOC130064247 (P120L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090733	NM_014209.4(ETV2):c.367G>A (p.Gly123Ser)	ETV2, LOC130064247 (G30S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595773	NM_014209.4(ETV2):c.385G>A (p.Gly129Ser)	ETV2, LOC130064247 (G129S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276617	NM_014209.4(ETV2):c.397G>A (p.Val133Ile)	ETV2, LOC130064247 (V133I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3276615	NM_014209.4(ETV2):c.463G>C (p.Asp155His)	ETV2, LOC130064247 (D62H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090734	NM_014209.4(ETV2):c.472G>A (p.Val158Met)	ETV2, LOC130064247 (V158M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090735	NM_014209.4(ETV2):c.494A>G (p.Tyr165Cys)	ETV2, LOC130064247 (Y165C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090736	NM_014209.4(ETV2):c.514G>T (p.Gly172Trp)	ETV2 (G172W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330485	NM_014209.4(ETV2):c.519G>C (p.Glu173Asp)	ETV2 (E80D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276613	NM_014209.4(ETV2):c.527C>T (p.Thr176Met)	ETV2 (T176M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226629	NM_014209.4(ETV2):c.560G>T (p.Gly187Val)	ETV2 (G94V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291062	NM_014209.4(ETV2):c.622C>G (p.Arg208Gly)	ETV2 (R208G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2357535	NM_014209.4(ETV2):c.676C>T (p.Arg226Cys)	ETV2 (R133C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314169	NM_014209.4(ETV2):c.745G>A (p.Glu249Lys)	ETV2 (E249K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1162783	NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)	ETV2 (D160Y +2 more)	Single nucleotide variant (missense variant)	Polydactyly +3 more	GLikely pathogenic
Select item 2523428	NM_014209.4(ETV2):c.823A>G (p.Lys275Glu)	ETV2 (K182E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276614	NM_014209.4(ETV2):c.844G>A (p.Gly282Ser)	ETV2, LOC130064248 (G282S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090738	NM_014209.4(ETV2):c.868A>G (p.Met290Val)	ETV2, LOC130064248 (M197V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248452	NM_014209.4(ETV2):c.955C>G (p.Arg319Gly)	ETV2 (R132G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491378	NM_014209.4(ETV2):c.958T>G (p.Phe320Val)	ETV2 (F227V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558517	NM_014209.4(ETV2):c.965G>A (p.Gly322Asp)	ETV2 (G135D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266796	NM_014209.4(ETV2):c.977G>T (p.Ser326Ile)	ETV2 (S139I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	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: 50