Related gene-specific medical variations for Gene (Select 112) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337785	NM_015270.5(ADCY6):c.3415A>C (p.Lys1139Gln)	ADCY6, SPMIP11 (K1086Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3028990	NM_015270.5(ADCY6):c.3153G>A (p.Val1051=)	ADCY6, SPMIP11	Single nucleotide variant (synonymous variant +1 more)	ADCY6-related disorder	GLikely benign
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 2683196	NM_015270.5(ADCY6):c.3178G>C (p.Ala1060Pro)	ADCY6, SPMIP11 (A1007P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2557709	NM_015270.5(ADCY6):c.3479A>G (p.Tyr1160Cys)	ADCY6, SPMIP11 (Y1107C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330246	NM_015270.5(ADCY6):c.3488A>T (p.Asn1163Ile)	ADCY6, SPMIP11 (N1110I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301057	NM_015270.5(ADCY6):c.3412G>A (p.Ala1138Thr)	ADCY6, SPMIP11 (A1085T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231436	NM_015270.5(ADCY6):c.3238A>T (p.Asn1080Tyr)	ADCY6, SPMIP11 (N1080Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1289350	NM_015270.5(ADCY6):c.3382-99C>T	ADCY6, SPMIP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283688	NM_015270.5(ADCY6):c.3052-72A>G	ADCY6, SPMIP11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270250	NM_015270.5(ADCY6):c.3256+67C>T	ADCY6, SPMIP11	Single nucleotide variant (intron variant)	not provided	GBenign
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 806878	NM_015270.5(ADCY6):c.3193C>T (p.Arg1065Trp)	ADCY6, SPMIP11 (R1065W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788579	NM_015270.5(ADCY6):c.3291C>T (p.Ile1097=)	ADCY6, SPMIP11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739860	NM_015270.5(ADCY6):c.3186C>T (p.Tyr1062=)	ADCY6, SPMIP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738786	NM_015270.5(ADCY6):c.3363G>A (p.Gly1121=)	ADCY6, SPMIP11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727707	NM_015270.5(ADCY6):c.3052-9G>A	ADCY6, SPMIP11	Single nucleotide variant (intron variant)	not provided	GLikely benign
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