"PreventionGenetics, part of Exact Sciences"[submitter] AND "ADCY5"[ge - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 794055	NM_183357.3(ADCY5):c.3776C>T (p.Pro1259Leu)	ADCY5 (P1259L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2728200	NM_183357.3(ADCY5):c.3645C>T (p.Pro1215=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 724085	NM_183357.3(ADCY5):c.3402C>T (p.Gly1134=)	ADCY5	Single nucleotide variant (synonymous variant)	ADCY5-related disorder +1 more	GLikely benign
Select item 1002309	NM_183357.3(ADCY5):c.3148G>A (p.Ala1050Thr)	ADCY5 (A1050T +2 more)	Single nucleotide variant (missense variant)	ADCY5-related disorder +1 more	GUncertain significance
Select item 706217	NM_183357.3(ADCY5):c.2866G>A (p.Asp956Asn)	ADCY5 (D606N +1 more)	Single nucleotide variant (missense variant)	ADCY5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1621953	NM_183357.3(ADCY5):c.2838C>T (p.Ile946=)	ADCY5	Single nucleotide variant (synonymous variant)	ADCY5-related disorder +1 more	GLikely benign
Select item 1105259	NM_183357.3(ADCY5):c.2818G>A (p.Glu940Lys)	ADCY5 (E590K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 727957	NM_183357.3(ADCY5):c.2631C>T (p.Asn877=)	ADCY5	Single nucleotide variant (synonymous variant)	ADCY5-related disorder +1 more	GBenign/Likely benign
Select item 1453013	NM_183357.3(ADCY5):c.2272GAC[1] (p.Asp759del)	ADCY5 (D409del +1 more)	Microsatellite (inframe_deletion)	ADCY5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 702095	NM_183357.3(ADCY5):c.1519-9G>T	ADCY5	Single nucleotide variant (intron variant)	ADCY5-related disorder +1 more	GBenign
Select item 697698	NM_183357.3(ADCY5):c.1500C>T (p.Arg500=)	ADCY5	Single nucleotide variant (synonymous variant)	ADCY5-related disorder +1 more	GBenign/Likely benign
Select item 697629	NM_183357.3(ADCY5):c.1285-6C>T	ADCY5	Single nucleotide variant (intron variant)	Dyskinesia with orofacial involvement, autosomal dominant +5 more	GBenign/Likely benign
Select item 3058303	NM_183357.3(ADCY5):c.1014C>G (p.Thr338=)	ADCY5	Single nucleotide variant (synonymous variant)	ADCY5-related disorder	GLikely benign
Select item 748208	NM_183357.3(ADCY5):c.910G>A (p.Ala304Thr)	ADCY5 (A304T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1476870	NM_183357.3(ADCY5):c.825G>A (p.Ala275=)	ADCY5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 702583	NM_183357.3(ADCY5):c.55G>A (p.Ala19Thr)	ADCY5 (A19T)	Single nucleotide variant (missense variant)	ADCY5-related disorder +1 more	GConflicting classifications of pathogenicity