"PreventionGenetics, part of Exact Sciences"[submitter] AND "FAM111A"[ - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 779147	NM_001312909.2(FAM111A):c.63C>T (p.Ile21=)	FAM111A	Single nucleotide variant (synonymous variant)	FAM111A-related disorder +1 more	GBenign/Likely benign
Select item 3035478	NM_001312909.2(FAM111A):c.345A>G (p.Arg115=)	FAM111A	Single nucleotide variant (synonymous variant)	FAM111A-related disorder	GLikely benign
Select item 1708456	NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)	FAM111A (Q122*)	Single nucleotide variant (nonsense)	Short stature +2 more	GConflicting classifications of pathogenicity
Select item 3052901	NM_001312909.2(FAM111A):c.438T>C (p.Cys146=)	FAM111A	Single nucleotide variant (synonymous variant)	FAM111A-related disorder	GLikely benign
Select item 2632430	NM_001312909.2(FAM111A):c.484del (p.Ser162fs)	FAM111A (S162fs)	Deletion (frameshift variant)	FAM111A-related disorder	GUncertain significance
Select item 756175	NM_001312909.2(FAM111A):c.486_489del (p.Lys163fs)	FAM111A (K163fs)	Deletion (frameshift variant)	not provided +1 more	GLikely benign
Select item 711046	NM_001312909.2(FAM111A):c.738T>C (p.Asn246=)	FAM111A	Single nucleotide variant (synonymous variant)	FAM111A-related disorder +1 more	GBenign/Likely benign
Select item 770974	NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs)	FAM111A (F264fs)	Duplication (frameshift variant)	FAM111A-related disorder +2 more	GBenign/Likely benign
Select item 435118	NM_001312909.2(FAM111A):c.828A>G (p.Ala276=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2629230	NM_001312909.2(FAM111A):c.1119T>G (p.Phe373Leu)	FAM111A (F373L)	Single nucleotide variant (missense variant)	FAM111A-related disorder	GUncertain significance
Select item 2158690	NM_001312909.2(FAM111A):c.1153C>T (p.His385Tyr)	FAM111A (H385Y)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2053761	NM_001312909.2(FAM111A):c.1257C>T (p.Asp419=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1596184	NM_001312909.2(FAM111A):c.1285C>A (p.Pro429Thr)	FAM111A (P429T)	Single nucleotide variant (missense variant)	FAM111A-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 789443	NM_001312909.2(FAM111A):c.1588A>G (p.Ile530Val)	FAM111A (I530V)	Single nucleotide variant (missense variant)	FAM111A-related disorder +1 more	GBenign/Likely benign