ClinVar for Gene (Select 51439) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2656256	NM_016255.3(FAM8A1):c.546C>T (p.Ala182=)	FAM8A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656255	NM_016255.3(FAM8A1):c.372C>T (p.Ser124=)	FAM8A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555583	NM_016255.3(FAM8A1):c.783C>G (p.Phe261Leu)	FAM8A1 (F261L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545172	NM_016255.3(FAM8A1):c.116C>G (p.Pro39Arg)	FAM8A1, LOC129995923 (P39R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408133	NM_016255.3(FAM8A1):c.185C>T (p.Ala62Val)	FAM8A1, LOC129995923 (A62V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379068	NM_016255.3(FAM8A1):c.509G>A (p.Gly170Asp)	FAM8A1 (G170D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377385	NM_016255.3(FAM8A1):c.1016G>A (p.Arg339Gln)	FAM8A1 (R339Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373349	NM_016255.3(FAM8A1):c.202G>A (p.Glu68Lys)	FAM8A1, LOC129995923 (E68K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347332	NM_016255.3(FAM8A1):c.568G>A (p.Ala190Thr)	FAM8A1 (A190T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346472	NM_016255.3(FAM8A1):c.184G>A (p.Ala62Thr)	FAM8A1, LOC129995923 (A62T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340135	NM_016255.3(FAM8A1):c.35C>G (p.Pro12Arg)	FAM8A1, LOC129995923 (P12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313798	NM_016255.3(FAM8A1):c.181G>C (p.Ala61Pro)	FAM8A1, LOC129995923 (A61P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308269	NM_016255.3(FAM8A1):c.181G>A (p.Ala61Thr)	FAM8A1, LOC129995923 (A61T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275767	NM_016255.3(FAM8A1):c.274G>C (p.Gly92Arg)	FAM8A1 (G92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227020	NM_016255.3(FAM8A1):c.245G>A (p.Gly82Asp)	FAM8A1 (G82D)	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 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
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 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic
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 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
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 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	LINC02522, LINC02525 +823 more	Copy number gain	See cases	GPathogenic
Select item 57174	GRCh38/hg38 6p22.3(chr6:17397932-17966557)x3	CAP2, FAM8A1 +17 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32