FAM8A1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 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 57174	GRCh38/hg38 6p22.3(chr6:17397932-17966557)x3	CAP2, FAM8A1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 2340135	NM_016255.3(FAM8A1):c.35C>G (p.Pro12Arg)	FAM8A1, LOC129995923 (P12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545172	NM_016255.3(FAM8A1):c.116C>G (p.Pro39Arg)	FAM8A1, LOC129995923 (P39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313798	NM_016255.3(FAM8A1):c.181G>C (p.Ala61Pro)	FAM8A1, LOC129995923 (A61P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308269	NM_016255.3(FAM8A1):c.181G>A (p.Ala61Thr)	FAM8A1, LOC129995923 (A61T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346472	NM_016255.3(FAM8A1):c.184G>A (p.Ala62Thr)	FAM8A1, LOC129995923 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408133	NM_016255.3(FAM8A1):c.185C>T (p.Ala62Val)	FAM8A1, LOC129995923 (A62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373349	NM_016255.3(FAM8A1):c.202G>A (p.Glu68Lys)	FAM8A1, LOC129995923 (E68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227020	NM_016255.3(FAM8A1):c.245G>A (p.Gly82Asp)	FAM8A1 (G82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092700	NM_016255.3(FAM8A1):c.272C>T (p.Ala91Val)	FAM8A1 (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275767	NM_016255.3(FAM8A1):c.274G>C (p.Gly92Arg)	FAM8A1 (G92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092701	NM_016255.3(FAM8A1):c.327C>G (p.Ser109Arg)	FAM8A1 (S109R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656255	NM_016255.3(FAM8A1):c.372C>T (p.Ser124=)	FAM8A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2379068	NM_016255.3(FAM8A1):c.509G>A (p.Gly170Asp)	FAM8A1 (G170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656256	NM_016255.3(FAM8A1):c.546C>T (p.Ala182=)	FAM8A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347332	NM_016255.3(FAM8A1):c.568G>A (p.Ala190Thr)	FAM8A1 (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092702	NM_016255.3(FAM8A1):c.725T>C (p.Val242Ala)	FAM8A1 (V242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092703	NM_016255.3(FAM8A1):c.782T>A (p.Phe261Tyr)	FAM8A1 (F261Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555583	NM_016255.3(FAM8A1):c.783C>G (p.Phe261Leu)	FAM8A1 (F261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681272	NM_016255.3(FAM8A1):c.892A>C (p.Met298Leu)	FAM8A1 (M298L)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3092704	NM_016255.3(FAM8A1):c.967A>G (p.Ile323Val)	FAM8A1 (I323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377385	NM_016255.3(FAM8A1):c.1016G>A (p.Arg339Gln)	FAM8A1 (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092699	NM_016255.3(FAM8A1):c.1119C>G (p.Ile373Met)	FAM8A1 (I373M)	Single nucleotide variant (missense variant)	not specified	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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +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

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Items: 39