"GeneDx"[submitter] AND "FAM111A"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286531	NM_001312909.2(FAM111A):c.-76-232A>G	FAM111A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197694	NM_001312909.2(FAM111A):c.-76-90C>T	FAM111A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1224286	NM_001312909.2(FAM111A):c.81+68A>G	FAM111A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230550	NM_001312909.2(FAM111A):c.81+169A>G	FAM111A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208397	NM_001312909.2(FAM111A):c.81+269G>A	FAM111A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272462	NM_001312909.2(FAM111A):c.81+302del	FAM111A	Deletion (intron variant)	not provided	GBenign
Select item 1267115	NM_001312909.2(FAM111A):c.82-129A>T	FAM111A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1698154	NM_001312909.2(FAM111A):c.169G>A (p.Ala57Thr)	FAM111A (A57T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366129	NM_001312909.2(FAM111A):c.187C>T (p.Pro63Ser)	FAM111A (P63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376886	NM_001312909.2(FAM111A):c.310T>A (p.Leu104Ile)	FAM111A (L104I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3369852	NM_001312909.2(FAM111A):c.412A>G (p.Ile138Val)	FAM111A (I138V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712094	NM_001312909.2(FAM111A):c.427C>T (p.Pro143Ser)	FAM111A (P143S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803406	NM_001312909.2(FAM111A):c.634T>C (p.Cys212Arg)	FAM111A (C212R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275283	NM_001312909.2(FAM111A):c.672A>G (p.Ala224=)	FAM111A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770974	NM_001312909.2(FAM111A):c.782_791dup (p.Phe264fs)	FAM111A (F264fs)	Duplication (frameshift variant)	Autosomal dominant Kenny-Caffey syndrome +1 more	GBenign/Likely benign
Select item 1596184	NM_001312909.2(FAM111A):c.1285C>A (p.Pro429Thr)	FAM111A (P429T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1304189	NM_001312909.2(FAM111A):c.1286C>A (p.Pro429His)	FAM111A (P429H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313748	NM_001312909.2(FAM111A):c.1340A>G (p.Glu447Gly)	FAM111A (E447G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227422	NM_001312909.2(FAM111A):c.1351C>G (p.Gln451Glu)	FAM111A (Q451E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3377904	NM_001312909.2(FAM111A):c.1396A>T (p.Ser466Cys)	FAM111A (S466C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253069	NM_001312909.2(FAM111A):c.1415T>C (p.Ile472Thr)	FAM111A (I472T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311654	NM_001312909.2(FAM111A):c.1454G>C (p.Cys485Ser)	FAM111A (C485S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367256	NM_001312909.2(FAM111A):c.1515A>T (p.Lys505Asn)	FAM111A (K505N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574550	NM_001312909.2(FAM111A):c.1608T>A (p.Phe536Leu)	FAM111A (F536L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446480	NM_001312909.2(FAM111A):c.1670C>G (p.Ala557Gly)	FAM111A (A557G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524110	NM_001312909.2(FAM111A):c.1697del (p.Asn566fs)	FAM111A (N566fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 56810	NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)	FAM111A (R569H)	Single nucleotide variant (missense variant)	Osteocraniostenosis +3 more	GPathogenic/Likely pathogenic
Select item 1361113	NM_001312909.2(FAM111A):c.1714_1716del (p.Ile572del)	FAM111A (I572del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1210488	NM_001312909.2(FAM111A):c.*186A>G	FAM111A	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1241487	NM_001312909.2(FAM111A):c.210_215dup	FAM111A	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1192914	NM_001312909.2(FAM111A):c.*215dup	FAM111A	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1211007	NM_001312909.2(FAM111A):c.*215del	FAM111A	Deletion (3 prime UTR variant)	not provided	GLikely benign

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Items: 32