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

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434065	NM_001082486.2(ACD):c.1336C>T (p.Leu446=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1124867	NM_001082486.2(ACD):c.1314C>T (p.Leu438=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1540136	NM_001082486.2(ACD):c.1206+10del	ACD	Deletion (intron variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 860243	NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser)	ACD (P352S +1 more)	Single nucleotide variant (missense variant)	ACD-related disorder +2 more	GUncertain significance
Select item 1404342	NM_001082486.2(ACD):c.862G>A (p.Glu288Lys)	ACD (E288K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 728419	NM_001082486.2(ACD):c.837G>A (p.Pro279=)	ACD	Single nucleotide variant (synonymous variant)	ACD-related disorder +2 more	GLikely benign
Select item 2069645	NM_001082486.2(ACD):c.830-5C>T	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GLikely benign
Select item 542420	NM_001082486.2(ACD):c.801C>T (p.Ala267=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GBenign/Likely benign
Select item 2630494	NM_001082486.2(ACD):c.751C>G (p.Leu251Val)	ACD (L248V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 6 +1 more	GUncertain significance
Select item 542421	NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)	ACD (T205A +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +3 more	GConflicting classifications of pathogenicity
Select item 1762151	NM_001082486.2(ACD):c.555C>G (p.Leu185=)	ACD	Single nucleotide variant (synonymous variant)	ACD-related disorder +2 more	GLikely benign
Select item 863083	NM_001082486.2(ACD):c.527G>T (p.Arg176Leu)	ACD (R173L +1 more)	Single nucleotide variant (missense variant)	ACD-related disorder +1 more	GUncertain significance
Select item 1090696	NM_001082486.2(ACD):c.513T>G (p.Leu171=)	ACD	Single nucleotide variant (synonymous variant)	ACD-related disorder +3 more	GLikely benign
Select item 434071	NM_001082486.2(ACD):c.22G>A (p.Val8Ile)	ACD (V8I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2452463	NM_001082486.2(ACD):c.-35C>T	ACD	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1746809	NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)	ACD, LOC130059224 (A40E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1061600	NM_001082486.1(ACD):c.80G>A (p.Gly27Glu)	ACD, LOC130059224 (G27E)	Single nucleotide variant (missense variant)	ACD-related disorder +2 more	GUncertain significance
Select item 741364	NM_001082486.1(ACD):c.69G>A (p.Gly23=)	ACD, LOC130059224	Single nucleotide variant (synonymous variant)	ACD-related disorder +2 more	GLikely benign