Related gene-specific medical variations for Gene (Select 107) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245922	NC_000007.13:g.(?_45662211)_(45662362_?)del	ADCY1	Deletion	not provided	GUncertain significance
Select item 2968191	NM_021116.4(ADCY1):c.231G>A (p.Leu77=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2956948	NM_021116.4(ADCY1):c.251C>G (p.Pro84Arg)	ADCY1, LOC129998402 (P84R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956608	NM_021116.4(ADCY1):c.217G>A (p.Gly73Ser)	ADCY1, LOC129998402 (G73S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2820381	NM_021116.4(ADCY1):c.278G>A (p.Gly93Asp)	ADCY1, LOC129998402 (G93D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1901104	NM_021116.4(ADCY1):c.300C>T (p.Val100=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1564189	NM_021116.4(ADCY1):c.273C>A (p.Ala91=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1317902	NM_021116.4(ADCY1):c.258C>G (p.Pro86=)	ADCY1, LOC129998402	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1317252	NM_021116.4(ADCY1):c.248C>T (p.Ala83Val)	ADCY1, LOC129998402 (A83V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1238867	NM_021116.4(ADCY1):c.234C>G (p.Ala78=)	LOC129998402, ADCY1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign