"Genome-Nilou Lab"[submitter] AND "ACD"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1317831	NM_001013838.3(CARMIL2):c.4195+39C>T	ACD, CARMIL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 475766	NM_001082486.2(ACD):c.1371G>T (p.Pro457=)	ACD	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 434065	NM_001082486.2(ACD):c.1336C>T (p.Leu446=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1166998	NM_001082486.2(ACD):c.1298+20C>A	ACD	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GBenign
Select item 1167321	NM_001082486.2(ACD):c.1295T>C (p.Val432Ala)	ACD (V429A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 475765	NM_001082486.2(ACD):c.1207-10C>T	ACD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 475764	NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)	ACD (G308E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 542418	NM_001082486.2(ACD):c.819C>T (p.Pro273=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GBenign/Likely benign
Select item 1168458	NM_001082486.2(ACD):c.494-20C>T	ACD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1167322	NM_001082486.2(ACD):c.413+3A>G	ACD	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 434068	NM_001082486.2(ACD):c.132C>T (p.Gly44=)	ACD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 475768	NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)	ACD (R27Q)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 6 +2 more	GBenign/Likely benign