ClinVar for MedGen (Select 341854) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1272846	NM_021116.4(ADCY1):c.1789C>T (p.Arg597Trp)	ADCY1 (R597W)	Single nucleotide variant (missense variant)	ADCY1-related condition +2 more	GBenign/Likely benign
Select item 1188955	NM_021116.4(ADCY1):c.2718+58G>A	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188954	NM_021116.4(ADCY1):c.2571+37T>G	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188953	NM_021116.4(ADCY1):c.1149-29T>C	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188952	NM_021116.4(ADCY1):c.1149-31C>G	ADCY1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1028721	NM_021116.4(ADCY1):c.2161A>G (p.Thr721Ala)	ADCY1 (T721A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 517532	NM_021116.4(ADCY1):c.3090G>A (p.Arg1030=)	ADCY1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 44 +2 more	GBenign
Select item 139587	NM_021116.4(ADCY1):c.3112C>T (p.Arg1038Ter)	ADCY1 (R1038*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 44	GPathogenic

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