ClinVar for Gene (Select 8836) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281304	NM_003878.3(GGH):c.797A>C (p.Lys266Thr)	GGH (K266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099601	NM_003878.3(GGH):c.883G>A (p.Ala295Thr)	GGH (A295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099600	NM_003878.3(GGH):c.833A>G (p.Glu278Gly)	GGH (E278G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099599	NM_003878.3(GGH):c.809A>C (p.Tyr270Ser)	GGH (Y270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099598	NM_003878.3(GGH):c.779A>G (p.His260Arg)	GGH (H260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099597	NM_003878.3(GGH):c.13G>A (p.Gly5Ser)	GGH (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2776136	NM_003878.3(GGH):c.224+16_224+17insG	GGH	Insertion (intron variant)	not provided	GLikely benign
Select item 2560780	NM_003878.3(GGH):c.17G>A (p.Cys6Tyr)	GGH (C6Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552439	NM_003878.3(GGH):c.464C>T (p.Thr155Ile)	GGH (T155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528599	NM_003878.3(GGH):c.481C>T (p.Pro161Ser)	GGH (P161S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460286	NM_003878.3(GGH):c.304C>G (p.Leu102Val)	GGH (L102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457723	NM_003878.3(GGH):c.467T>C (p.Val156Ala)	GGH (V156A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393426	NM_003878.3(GGH):c.923T>C (p.Ile308Thr)	GGH (I308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322900	NM_003878.3(GGH):c.700T>C (p.Tyr234His)	GGH (Y234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316952	NM_003878.3(GGH):c.535A>G (p.Thr179Ala)	GGH (T179A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293411	NM_003878.3(GGH):c.691A>G (p.Met231Val)	GGH (M231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262402	NM_003878.3(GGH):c.688A>G (p.Thr230Ala)	GGH (T230A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243648	NM_003878.3(GGH):c.179A>G (p.Tyr60Cys)	GGH (Y60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235678	NM_003878.3(GGH):c.587A>G (p.Lys196Arg)	GGH (K196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211796	NM_003878.3(GGH):c.77C>A (p.Pro26His)	GGH (P26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208101	NM_003878.3(GGH):c.704A>G (p.Lys235Arg)	GGH (K235R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527435	GRCh37/hg19 8q12.3(chr8:63122839-64926318)	GGH, NKAIN3 +2 more	Copy number gain	not specified	GUncertain significance
Select item 788273	NM_003878.3(GGH):c.174G>A (p.Ala58=)	GGH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718627	NM_003878.3(GGH):c.268A>G (p.Ile90Val)	GGH (I90V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149234	GRCh38/hg38 8q12.3(chr8:62598005-63822225)x1	GGH, LINC01289 +22 more	Copy number loss	See cases	GUncertain significance
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 145461	GRCh38/hg38 8q12.1-13.1(chr8:60519222-66659025)x3	ADHFE1, ARMC1 +150 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 144167	GRCh38/hg38 8q12.2-13.1(chr8:60816393-65117062)x1	ASPH, BHLHE22 +79 more	Copy number loss	See cases	GPathogenic
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	ADHFE1, ARFGEF1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 50