5363[HGNC] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 2373383	NM_001546.4(ID4):c.55G>A (p.Gly19Ser)	ID4 (G19S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483198	NM_001546.4(ID4):c.100A>T (p.Ser34Cys)	ID4 (S34C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341137	NM_001546.4(ID4):c.124G>A (p.Ala42Thr)	ID4 (A42T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569060	NM_001546.4(ID4):c.134C>T (p.Ala45Val)	ID4 (A45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244020	NM_001546.4(ID4):c.437A>C (p.Asp146Ala)	ID4 (D146A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 394079	GRCh37/hg19 6p22.3(chr6:19687791-19839727)x3	ID4	Copy number gain	See cases	GBenign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic