ClinVar for Gene (Select 83639) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2605280	NM_001130011.3(TEX101):c.209G>T (p.Gly70Val)	TEX101 (G88V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539380	NM_001130011.3(TEX101):c.86A>T (p.Gln29Leu)	TEX101 (Q29L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374171	NM_001130011.3(TEX101):c.323A>G (p.Tyr108Cys)	TEX101 (Y108C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335940	NM_001130011.3(TEX101):c.743T>C (p.Phe248Ser)	TEX101 (F266S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326855	NM_001130011.3(TEX101):c.488G>A (p.Arg163Gln)	TEX101 (R181Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302792	NM_001130011.3(TEX101):c.634C>G (p.Gln212Glu)	TEX101 (Q212E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278480	NM_001130011.3(TEX101):c.92G>A (p.Gly31Asp)	TEX101 (G31D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272754	NM_001130011.3(TEX101):c.688C>T (p.Pro230Ser)	TEX101 (P248S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2250519	NM_001130011.3(TEX101):c.581T>G (p.Met194Arg)	TEX101 (M212R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808065	GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3	CD177, CEACAM8 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1526666	GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076)	CD177, CEACAM8 +19 more	Copy number gain	not specified	GUncertain significance
Select item 980765	GRCh37/hg19 19q13.31(chr19:43834305-44004721)x1	CD177, LYPD3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687817	GRCh37/hg19 19q13.31(chr19:43818072-44100076)x3	CD177, ETHE1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 685142	GRCh37/hg19 19q13.31(chr19:43803157-44105375)x3	CD177, ETHE1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 564583	GRCh37/hg19 19q13.31(chr19:43846269-44055858)x4	LYPD3, XRCC1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394142	GRCh37/hg19 19q13.2-13.31(chr19:42891150-43922624)x3	CD177, CEACAM1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic
Select item 145905	GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3	CD177, ETHE1 +14 more	Copy number gain	See cases	GLikely benign
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	CADM4, CD177 +55 more	Copy number gain	See cases	GUncertain significance
Select item 60276	GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3	CD177, ETHE1 +18 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 25