ADCY8[gene] and "single gene"[properties] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2389081	NM_001115.3(ADCY8):c.3682C>T (p.Arg1228Trp)	ADCY8 (R1228W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569025	NM_001115.3(ADCY8):c.3680G>A (p.Arg1227Gln)	ADCY8 (R1227Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713271	NM_001115.3(ADCY8):c.3612T>C (p.Asn1204=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713272	NM_001115.3(ADCY8):c.3582G>A (p.Ala1194=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2264032	NM_001115.3(ADCY8):c.3581C>T (p.Ala1194Val)	ADCY8 (A1194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082353	NM_001115.3(ADCY8):c.3580G>A (p.Ala1194Thr)	ADCY8 (A1194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342944	NM_001115.3(ADCY8):c.3533C>A (p.Pro1178Gln)	ADCY8 (P1178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400263	NM_001115.3(ADCY8):c.3532C>G (p.Pro1178Ala)	ADCY8 (P1178A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082349	NM_001115.3(ADCY8):c.3472A>T (p.Ile1158Phe)	ADCY8 (I1158F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516382	NM_001115.3(ADCY8):c.3456G>C (p.Glu1152Asp)	ADCY8 (E1152D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256104	NM_001115.3(ADCY8):c.3449G>A (p.Arg1150Gln)	ADCY8 (R1150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245600	NM_001115.3(ADCY8):c.3382G>A (p.Gly1128Ser)	ADCY8 (G1128S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336864	NM_001115.3(ADCY8):c.3376G>T (p.Val1126Phe)	ADCY8 (V1126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215758	NM_001115.3(ADCY8):c.3205G>A (p.Ala1069Thr)	ADCY8 (A1069T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082326	NM_001115.3(ADCY8):c.3181T>C (p.Cys1061Arg)	ADCY8 (C1061R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528140	NM_001115.3(ADCY8):c.3160G>A (p.Glu1054Lys)	ADCY8 (E1054K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281534	NM_001115.3(ADCY8):c.3158G>A (p.Cys1053Tyr)	ADCY8 (C1053Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785263	NM_001115.3(ADCY8):c.2976G>A (p.Ala992=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748963	NM_001115.3(ADCY8):c.2949G>A (p.Val983=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2400635	NM_001115.3(ADCY8):c.2881C>T (p.Arg961Cys)	ADCY8 (R961C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282950	NM_001115.3(ADCY8):c.2435C>T (p.Ser812Leu)	ADCY8 (S812L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556870	NM_001115.3(ADCY8):c.2164G>A (p.Val722Ile)	ADCY8 (V722I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394700	NM_001115.3(ADCY8):c.2082G>A (p.Met694Ile)	ADCY8 (M694I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082288	NM_001115.3(ADCY8):c.2078T>C (p.Leu693Pro)	ADCY8 (L693P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551221	NM_001115.3(ADCY8):c.1636C>T (p.Pro546Ser)	ADCY8 (P546S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724053	NM_001115.3(ADCY8):c.1551C>T (p.Cys517=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2220991	NM_001115.3(ADCY8):c.1343G>A (p.Arg448Gln)	ADCY8 (R448Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309237	NM_001115.3(ADCY8):c.1177G>A (p.Val393Met)	ADCY8 (V393M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082268	NM_001115.3(ADCY8):c.1139G>A (p.Arg380Gln)	ADCY8 (R380Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474935	NM_001115.3(ADCY8):c.1132C>T (p.Leu378Phe)	ADCY8 (L378F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082265	NM_001115.3(ADCY8):c.1115G>A (p.Arg372Gln)	ADCY8 (R372Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082263	NM_001115.3(ADCY8):c.1024T>C (p.Ser342Pro)	ADCY8 (S342P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785264	NM_001115.3(ADCY8):c.945C>T (p.Val315=)	ADCY8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2606560	NM_001115.3(ADCY8):c.879C>G (p.Ile293Met)	ADCY8 (I293M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216801	NM_001115.3(ADCY8):c.877A>T (p.Ile293Phe)	ADCY8 (I293F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600342	NM_001115.3(ADCY8):c.869C>T (p.Thr290Ile)	ADCY8 (T290I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390563	NM_001115.3(ADCY8):c.781G>A (p.Gly261Ser)	ADCY8 (G261S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545660	NM_001115.3(ADCY8):c.691G>C (p.Val231Leu)	ADCY8 (V231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218546	NM_001115.3(ADCY8):c.559G>T (p.Val187Leu)	ADCY8 (V187L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082360	NM_001115.3(ADCY8):c.515G>T (p.Arg172Leu)	ADCY8 (R172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544147	NM_001115.3(ADCY8):c.436G>T (p.Gly146Cys)	ADCY8 (G146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308695	NM_001115.3(ADCY8):c.346G>T (p.Gly116Cys)	ADCY8 (G116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082340	NM_001115.3(ADCY8):c.344G>A (p.Ser115Asn)	ADCY8 (S115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372361	NM_001115.3(ADCY8):c.329C>A (p.Pro110Gln)	ADCY8 (P110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373419	NM_001115.3(ADCY8):c.296G>A (p.Arg99Gln)	ADCY8 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403258	NM_001115.3(ADCY8):c.275A>T (p.Tyr92Phe)	ADCY8 (Y92F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603775	NM_001115.3(ADCY8):c.260C>T (p.Ser87Leu)	ADCY8 (S87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537867	NM_001115.3(ADCY8):c.256G>T (p.Asp86Tyr)	ADCY8 (D86Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210648	NM_001115.3(ADCY8):c.215C>A (p.Ala72Glu)	ADCY8 (A72E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082294	NM_001115.3(ADCY8):c.211C>G (p.Pro71Ala)	ADCY8 (P71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321472	NM_001115.3(ADCY8):c.194C>G (p.Ser65Trp)	ADCY8 (S65W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305297	NM_001115.3(ADCY8):c.163C>T (p.Arg55Trp)	ADCY8 (R55W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478220	NM_001115.3(ADCY8):c.130C>A (p.His44Asn)	ADCY8 (H44N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592685	NM_001115.3(ADCY8):c.88G>T (p.Ala30Ser)	ADCY8 (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549196	NM_001115.3(ADCY8):c.79G>C (p.Gly27Arg)	ADCY8 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592227	NM_001115.3(ADCY8):c.73G>A (p.Gly25Ser)	ADCY8 (G25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262828	NM_001115.3(ADCY8):c.7C>T (p.Leu3Phe)	ADCY8 (L3F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815171	GRCh37/hg19 8q24.22(chr8:131902859-132863217)x3	ADCY8	Copy number gain	not provided	GLikely benign

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Items: 58