199692[Gene ID] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 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 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 2308008	NM_145295.4(ZNF627):c.82C>G (p.Leu28Val)	ZNF627 (L28V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2377255	NM_145295.4(ZNF627):c.353G>A (p.Arg118Lys)	ZNF627 (R118K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258969	NM_145295.4(ZNF627):c.376C>T (p.Arg126Cys)	ZNF627 (R94C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560058	NM_145295.4(ZNF627):c.425A>G (p.Asn142Ser)	ZNF627 (N110S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386516	NM_145295.4(ZNF627):c.536T>C (p.Leu179Pro)	ZNF627 (L147P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556120	NM_145295.4(ZNF627):c.544A>G (p.Ile182Val)	ZNF627 (I72V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274787	NM_145295.4(ZNF627):c.563C>T (p.Thr188Met)	ZNF627 (T156M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279284	NM_145295.4(ZNF627):c.575G>T (p.Gly192Val)	ZNF627 (G82V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296680	NM_145295.4(ZNF627):c.593A>G (p.Lys198Arg)	ZNF627 (K166R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240618	NM_145295.4(ZNF627):c.632G>A (p.Arg211His)	ZNF627 (R211H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197327	NM_145295.4(ZNF627):c.644G>A (p.Arg215Lys)	ZNF627 (R105K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348336	NM_145295.4(ZNF627):c.704C>G (p.Ser235Cys)	ZNF627 (S235C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611807	NM_145295.4(ZNF627):c.746A>G (p.Lys249Arg)	ZNF627 (K139R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346833	NM_145295.4(ZNF627):c.800G>A (p.Arg267Gln)	ZNF627 (R267Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391228	NM_145295.4(ZNF627):c.812G>A (p.Arg271Gln)	ZNF627 (R161Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258974	NM_145295.4(ZNF627):c.836A>C (p.Tyr279Ser)	ZNF627 (Y247S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529222	NM_145295.4(ZNF627):c.884G>A (p.Arg295Gln)	ZNF627 (R185Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258975	NM_145295.4(ZNF627):c.905C>T (p.Thr302Ile)	ZNF627 (T192I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403993	NM_145295.4(ZNF627):c.907G>A (p.Gly303Arg)	ZNF627 (G193R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385406	NM_145295.4(ZNF627):c.976A>G (p.Met326Val)	ZNF627 (M216V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197328	NM_145295.4(ZNF627):c.984G>C (p.Lys328Asn)	ZNF627 (K218N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197324	NM_145295.4(ZNF627):c.1118G>T (p.Ser373Ile)	ZNF627 (S263I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288995	NM_145295.4(ZNF627):c.1123T>G (p.Ser375Ala)	ZNF627 (S343A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258968	NM_145295.4(ZNF627):c.1148G>A (p.Arg383Lys)	ZNF627 (R273K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532587	NM_145295.4(ZNF627):c.1176A>C (p.Lys392Asn)	ZNF627 (K360N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258972	NM_145295.4(ZNF627):c.1196C>T (p.Ala399Val)	ZNF627 (A367V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208323	NM_145295.4(ZNF627):c.1204C>T (p.Arg402Cys)	ZNF627 (R402C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197325	NM_145295.4(ZNF627):c.1246G>C (p.Glu416Gln)	ZNF627 (E416Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197326	NM_145295.4(ZNF627):c.1304G>A (p.Arg435Gln)	ZNF627 (R325Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258970	NM_145295.4(ZNF627):c.1310A>G (p.His437Arg)	ZNF627 (H327R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258973	NM_145295.4(ZNF627):c.1348C>T (p.Pro450Ser)	ZNF627 (P418S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816067	GRCh37/hg19 19p13.2(chr19:11667844-11780171)x1	ACP5, ZNF627 +1 more	Copy number loss	not provided	GUncertain significance
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
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
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 49