ClinVar for MedGen (Select 896058) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690848	NM_015270.5(ADCY6):c.583_585del (p.Met195del)	ADCY6 (M195del)	Deletion (inframe_deletion +1 more)	Lethal congenital contracture syndrome 8	GUncertain significance
Select item 2690847	NM_015270.5(ADCY6):c.520G>A (p.Ala174Thr)	ADCY6 (A174T)	Single nucleotide variant (missense variant +1 more)	Lethal congenital contracture syndrome 8	GUncertain significance
Select item 995840	NM_015270.5(ADCY6):c.3007G>A (p.Glu1003Lys)	ADCY6 (E1003K)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 8	GPathogenic
Select item 995839	NM_015270.5(ADCY6):c.1535+1G>A	ADCY6	Single nucleotide variant (splice donor variant)	Lethal congenital contracture syndrome 8	GPathogenic
Select item 931553	NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val)	ADCY6 (L343V)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 8	GUncertain significance
Select item 243078	NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys)	ADCY6 (Y992C +1 more)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 8	GLikely pathogenic
Select item 189260	NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys)	ADCY6, TEX49 (R1116C)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 8	GPathogenic

ClinVar