"Ambry Genetics"[submitter] AND "FAM8A1"[gene] - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2379068	NM_016255.3(FAM8A1):c.509G>A (p.Gly170Asp)	FAM8A1 (G170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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