PPIAL4G[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57409	GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3	BCL9, LINC00623 +213 more	Copy number gain	See cases	GPathogenic
Select item 153061	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +178 more	Copy number loss	See cases	GPathogenic
Select item 150976	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1	LOC129931352, LOC129931353 +183 more	Copy number loss	See cases	GPathogenic
Select item 148361	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	ACP6, ANKRD34A +179 more	Copy number loss	See cases	GPathogenic
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +178 more	Copy number gain	See cases	GPathogenic
Select item 58491	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1	LOC126805854, LOC128071544 +179 more	Copy number loss	See cases	GPathogenic
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	ACP6, ANKRD34A +168 more	Copy number gain	See cases	GPathogenic
Select item 153066	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GLikely pathogenic
Select item 152031	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1	ACP6, ANKRD34A +153 more	Copy number loss	See cases	GPathogenic
Select item 148573	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	LOC126805853, LOC126805854 +153 more	Copy number gain	See cases	GPathogenic
Select item 146808	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 160968	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160952	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 160925	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154737	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154599	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 154444	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	ACP6, ANKRD34A +143 more	Copy number loss	See cases	GPathogenic
Select item 154413	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	LOC101927468, LOC106783502 +143 more	Copy number loss	See cases	GPathogenic
Select item 149420	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 148485	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	LOC129931329, LOC129931330 +143 more	Copy number gain	See cases	GPathogenic
Select item 59354	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 59337	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 58488	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1	ACP6, ANKRD34A +136 more	Copy number loss	See cases	GPathogenic
Select item 57209	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic
Select item 33116	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1	MIR5087, MIR6077 +143 more	Copy number loss	See cases	GPathogenic
Select item 32153	GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3	ACP6, ANKRD34A +143 more	Copy number gain	See cases	GPathogenic/Likely pathogenic
Select item 149419	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	ACP6, ANKRD34A +133 more	Copy number gain	See cases	GPathogenic
Select item 144158	GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3	LOC101927468, LOC106783502 +133 more	Copy number gain	See cases	GPathogenic
Select item 146027	GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 3236400	NC_000001.11:g.145516559_149951620del	ACP6, ANKRD34A +174 more	Deletion	Cataract 46 juvenile-onset	GUncertain significance
Select item 545144	NC_000001.11:g.(?_145580669)_(149095000_?)del	ACP6, ANKRD34A +130 more	Deletion	Schizophrenia	GPathogenic
Select item 545148	Single allele	ACP6, ANKRD34A +127 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 692221	NC_000001.11:g.145601946_148597425del	GPR89B, LOC129931326 +123 more	Deletion	Radial aplasia-thrombocytopenia syndrome	GLikely pathogenic
Select item 152673	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 146009	GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1	ACP6, ANKRD34A +123 more	Copy number loss	See cases	GPathogenic
Select item 2665054	GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641)	ACP6, BCL9 +59 more	Copy number loss	1q21.1 microdeletion syndrome (BP3-BP4, distal)	GPathogenic
Select item 154442	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x3	ACP6, BCL9 +58 more	Copy number gain	See cases	GPathogenic
Select item 149746	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148494217)x1	ACP6, BCL9 +58 more	Copy number loss	See cases	GPathogenic
Select item 144787	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1	ACP6, BCL9 +58 more	Copy number loss	See cases	GPathogenic
Select item 57041	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1	ACP6, BCL9 +58 more	Copy number loss	See cases	GPathogenic
Select item 147326	GRCh38/hg38 1q21.1-21.2(chr1:146355224-148503773)x3	ACP6, BCL9 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 146019	GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3	ACP6, BCL9 +57 more	Copy number gain	See cases	GPathogenic
Select item 3242445	GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3	ACP6, BCL9 +62 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 155678	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 155579	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GLikely pathogenic
Select item 155545	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	RNVU1-1, RNVU1-27 +61 more	Copy number loss	See cases	GPathogenic
Select item 155466	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 155442	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 155237	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	CHD1L, FMO5 +61 more	Copy number loss	See cases	GPathogenic
Select item 155061	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GLikely pathogenic
Select item 154049	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GLikely pathogenic
Select item 153748	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 153679	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 153549	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 152837	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 152341	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 151215	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GPathogenic
Select item 146162	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1	ACP6, BCL9 +61 more	Copy number loss	See cases	GLikely pathogenic
Select item 144815	GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3	ACP6, BCL9 +61 more	Copy number gain	See cases	GPathogenic
Select item 59857	GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1	LOC129931369, MIR5087 +69 more	Copy number loss	See cases	GPathogenic
Select item 59350	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148492647)x3	ACP6, BCL9 +54 more	Copy number gain	See cases	GPathogenic
Select item 155421	GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4	ACP6, BCL9 +67 more	Copy number gain	See cases	GPathogenic
Select item 153883	GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3	ACP6, BCL9 +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 155305	GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3	ACP6, BCL9 +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 155702	GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3	ACP6, BCL9 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 153963	GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3	ACP6, BCL9 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 153881	GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3	ACP6, BCL9 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 153649	GRCh38/hg38 1q21.2(chr1:148259057-148492647)x1	LINC01138, LINC01731 +14 more	Copy number loss	See cases	GUncertain significance
Select item 144783	GRCh38/hg38 1q21.2(chr1:148437320-148490103)x3	LINC01138, PPIAL4G	Copy number gain	See cases	GBenign
Select item 3217178	NM_001123068.3(PPIAL4G):c.269G>A (p.Arg90Gln)	PPIAL4G (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302499	NM_001123068.3(PPIAL4G):c.256G>A (p.Glu86Lys)	PPIAL4G (E86K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205048	NM_001123068.3(PPIAL4G):c.229T>C (p.Ser77Pro)	PPIAL4G (S77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217177	NM_001123068.3(PPIAL4G):c.225C>G (p.Asp75Glu)	PPIAL4G (D75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639127	NM_001123068.3(PPIAL4G):c.219= (p.Thr73=)	PPIAL4G	Variation (no sequence alteration)	not provided	GLikely benign
Select item 2242950	NM_001123068.3(PPIAL4G):c.218C>G (p.Thr73Ser)	PPIAL4G (T73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217176	NM_001123068.3(PPIAL4G):c.194G>C (p.Gly65Ala)	PPIAL4G (G65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553315	NM_001123068.3(PPIAL4G):c.167T>A (p.Ile56Asn)	PPIAL4G (I56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309167	NM_001123068.3(PPIAL4G):c.166A>C (p.Ile56Leu)	PPIAL4G (I56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518774	NM_001123068.3(PPIAL4G):c.157T>C (p.Phe53Leu)	PPIAL4G (F53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526082	NM_001123068.3(PPIAL4G):c.142T>C (p.Tyr48His)	PPIAL4G (Y48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309166	NM_001123068.3(PPIAL4G):c.140G>T (p.Arg47Leu)	PPIAL4G (R47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560005	NM_001123068.3(PPIAL4G):c.97G>A (p.Ala33Thr)	PPIAL4G (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398599	NM_001123068.3(PPIAL4G):c.79G>A (p.Asp27Asn)	PPIAL4G (D27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217179	NM_001123068.3(PPIAL4G):c.68A>G (p.Lys23Arg)	PPIAL4G (K23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460078	NM_001123068.3(PPIAL4G):c.56G>A (p.Arg19His)	PPIAL4G (R19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639128	NM_001123068.3(PPIAL4G):c.34G>A (p.Val12Ile)	PPIAL4G (V12I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639129	NM_001123068.3(PPIAL4G):c.13G>A (p.Val5Ile)	PPIAL4G (V5I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 253484	GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3	ACP6, ANKRD34A +43 more	Copy number gain	See cases	GPathogenic
Select item 151449	GRCh37/hg19 1q21.1(chr1:143753740-144090824)x3	FAM72D, PPIAL4G +1 more	Copy number gain	See cases	GLikely benign
Select item 147618	GRCh37/hg19 1q21.1(chr1:143652719-143771002)x1	PPIAL4G	Copy number loss	See cases	GBenign
Select item 146685	GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3	ACP6, ANKRD34A +35 more	Copy number gain	See cases	GPathogenic
Select item 145865	GRCh37/hg19 1q21.1(chr1:143753740-143984287)x3	FAM72D, PPIAL4G +1 more	Copy number gain	See cases	GLikely benign
Select item 144786	GRCh37/hg19 1q21.1(chr1:143646652-143908838)x1	FAM72D, PPIAL4G	Copy number loss	See cases	GBenign

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