CLC[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 208912	NM_001828.5(CLC):c.389T>G	CLC (I130S)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 2213666	NM_001828.6(CLC):c.304G>T (p.Val102Leu)	CLC (V102L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1237360	NM_001828.6(CLC):c.195C>G (p.Asn65Lys)	CLC (N65K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2595480	NM_001828.6(CLC):c.179G>A (p.Arg60His)	CLC (R60H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516631	NM_001828.6(CLC):c.121C>T (p.His41Tyr)	CLC (H41Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	MEGF8-related Carpenter syndrome +3 more	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 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 395315	GRCh37/hg19 19q13.2(chr19:40194966-40276461)x1	CLC, LEUTX +1 more	Copy number loss	See cases	GUncertain significance
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic