ClinVar for Gene (Select 148103) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3197091	NM_001007248.3(ZNF599):c.920G>A (p.Arg307Gln)	ZNF599 (R307Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197090	NM_001007248.3(ZNF599):c.911C>T (p.Thr304Ile)	ZNF599 (T304I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197089	NM_001007248.3(ZNF599):c.742C>A (p.Leu248Ile)	ZNF599 (L248I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197088	NM_001007248.3(ZNF599):c.731G>A (p.Arg244Gln)	ZNF599 (R244Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197087	NM_001007248.3(ZNF599):c.680A>G (p.Tyr227Cys)	ZNF599 (Y227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197085	NM_001007248.3(ZNF599):c.532C>G (p.Leu178Val)	ZNF599 (L178V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3197084	NM_001007248.3(ZNF599):c.346T>G (p.Ser116Ala)	ZNF599 (S116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197083	NM_001007248.3(ZNF599):c.1670A>G (p.His557Arg)	ZNF599 (H557R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197082	NM_001007248.3(ZNF599):c.1588A>G (p.Thr530Ala)	ZNF599 (T530A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197080	NM_001007248.3(ZNF599):c.1391C>T (p.Ser464Phe)	ZNF599 (S464F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197079	NM_001007248.3(ZNF599):c.114G>A (p.Met38Ile)	ZNF599 (M38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197078	NM_001007248.3(ZNF599):c.1021T>C (p.Cys341Arg)	ZNF599 (C341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197077	NM_001007248.3(ZNF599):c.1016A>G (p.Tyr339Cys)	ZNF599 (Y339C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2649708	NM_001007248.3(ZNF599):c.710G>A (p.Arg237His)	ZNF599 (R237H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2622796	NM_001007248.3(ZNF599):c.1631T>C (p.Phe544Ser)	ZNF599 (F544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606210	NM_001007248.3(ZNF599):c.965A>G (p.Tyr322Cys)	ZNF599 (Y322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596238	NM_001007248.3(ZNF599):c.161A>C (p.Lys54Thr)	ZNF599 (K54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556437	NM_001007248.3(ZNF599):c.541T>G (p.Cys181Gly)	ZNF599 (C181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551966	NM_001007248.3(ZNF599):c.1582A>T (p.Ile528Phe)	ZNF599 (I528F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545114	NM_001007248.3(ZNF599):c.1366T>C (p.Cys456Arg)	ZNF599 (C456R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540633	NM_001007248.3(ZNF599):c.479A>G (p.Asp160Gly)	ZNF599 (D160G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531802	NM_001007248.3(ZNF599):c.799A>G (p.Arg267Gly)	ZNF599 (R267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530144	NM_001007248.3(ZNF599):c.622T>C (p.Phe208Leu)	ZNF599 (F208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512130	NM_001007248.3(ZNF599):c.1139C>T (p.Ser380Leu)	ZNF599 (S380L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491172	NM_001007248.3(ZNF599):c.189T>G (p.His63Gln)	ZNF599 (H63Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468502	NM_001007248.3(ZNF599):c.1504A>G (p.Thr502Ala)	ZNF599 (T502A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468273	NM_001007248.3(ZNF599):c.17T>C (p.Leu6Ser)	ZNF599 (L6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463315	NM_001007248.3(ZNF599):c.1192G>A (p.Gly398Ser)	ZNF599 (G398S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FFAR3, FXYD1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2407154	NM_001007248.3(ZNF599):c.605C>T (p.Thr202Met)	ZNF599 (T202M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393157	NM_001007248.3(ZNF599):c.1745G>A (p.Arg582Gln)	ZNF599 (R582Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382921	NM_001007248.3(ZNF599):c.592C>G (p.Pro198Ala)	ZNF599 (P198A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374681	NM_001007248.3(ZNF599):c.43G>T (p.Val15Phe)	ZNF599 (V15F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370626	NM_001007248.3(ZNF599):c.812C>T (p.Thr271Met)	ZNF599 (T271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370596	NM_001007248.3(ZNF599):c.1570C>T (p.Arg524Trp)	ZNF599 (R524W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364584	NM_001007248.3(ZNF599):c.1706G>A (p.Gly569Glu)	ZNF599 (G569E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364555	NM_001007248.3(ZNF599):c.1403G>A (p.Arg468Gln)	ZNF599 (R468Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362536	NM_001007248.3(ZNF599):c.1153C>G (p.His385Asp)	ZNF599 (H385D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356423	NM_001007248.3(ZNF599):c.1492A>T (p.Met498Leu)	ZNF599 (M498L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339021	NM_001007248.3(ZNF599):c.1413G>T (p.Arg471Ser)	ZNF599 (R471S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328691	NM_001007248.3(ZNF599):c.109G>A (p.Val37Met)	ZNF599 (V37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328318	NM_001007248.3(ZNF599):c.133C>G (p.Leu45Val)	ZNF599 (L45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328076	NM_001007248.3(ZNF599):c.1315A>G (p.Ile439Val)	ZNF599 (I439V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293292	NM_001007248.3(ZNF599):c.424C>T (p.His142Tyr)	ZNF599 (H142Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276462	NM_001007248.3(ZNF599):c.614G>A (p.Gly205Glu)	ZNF599 (G205E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272551	NM_001007248.3(ZNF599):c.1714T>G (p.Phe572Val)	ZNF599 (F572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272145	NM_001007248.3(ZNF599):c.338C>T (p.Ser113Leu)	ZNF599 (S113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267548	NM_001007248.3(ZNF599):c.1326G>C (p.Met442Ile)	ZNF599 (M442I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266515	NM_001007248.3(ZNF599):c.655C>A (p.Gln219Lys)	ZNF599 (Q219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 66