Related gene-specific medical variations for Gene (Select 111) - ClinVar - NCBI

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

Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236617	NM_183357.3(ADCY5):c.2162G>C (p.Gly721Ala)	ADCY5 (G371A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	GUncertain significance
Select item 2690846	NM_183357.3(ADCY5):c.880C>T (p.His294Tyr)	ADCY5 (H294Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438875	NM_183357.3(ADCY5):c.427G>C (p.Ala143Pro)	ADCY5 (A143P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438874	NM_183357.3(ADCY5):c.2558T>C (p.Met853Thr)	ADCY5 (M503T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438873	NM_183357.3(ADCY5):c.2872G>A (p.Ala958Thr)	ADCY5 (A608T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438872	NM_183357.3(ADCY5):c.2306C>T (p.Ser769Leu)	ADCY5 (S419L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803015	NM_183357.3(ADCY5):c.1235G>T (p.Arg412Leu)	ADCY5 (R412L +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 1690344	NM_183357.3(ADCY5):c.2122G>C (p.Glu708Gln)	ADCY5 (E358Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931467	NM_183357.3(ADCY5):c.3613G>A (p.Val1205Met)	ADCY5 (V1230M +2 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GUncertain significance
Select item 809529	NM_183357.3(ADCY5):c.556G>C (p.Asp186His)	ADCY5 (D186H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548595	NM_183357.3(ADCY5):c.575_580dup (p.Asp192_Ser193dup)	ADCY5	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 546941	NM_183357.3(ADCY5):c.2165G>A (p.Arg722His)	ADCY5 (R722H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425306	NM_183357.3(ADCY5):c.1377G>T (p.Lys459Asn)	ADCY5 (K459N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance