"Ambry Genetics"[submitter] AND "ARSG"[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2317226	NM_004694.5(SLC16A6):c.1552G>A (p.Val518Met)	ARSG, SLC16A6 (V518M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163118	NM_004694.5(SLC16A6):c.1477C>T (p.Arg493Cys)	ARSG, SLC16A6 (R493C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236762	NM_004694.5(SLC16A6):c.1310C>T (p.Pro437Leu)	ARSG, SLC16A6 (P437L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163117	NM_004694.5(SLC16A6):c.1096G>A (p.Val366Ile)	ARSG, SLC16A6 (V366I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620247	NM_004694.5(SLC16A6):c.944T>G (p.Ile315Ser)	ARSG, SLC16A6 (I315S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248416	NM_004694.5(SLC16A6):c.931C>T (p.Pro311Ser)	ARSG, SLC16A6 (P311S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307740	NM_004694.5(SLC16A6):c.904C>A (p.Leu302Ile)	ARSG, SLC16A6 (L302I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318947	NM_004694.5(SLC16A6):c.889T>C (p.Tyr297His)	ARSG, SLC16A6 (Y297H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318950	NM_004694.5(SLC16A6):c.845C>T (p.Pro282Leu)	ARSG, SLC16A6 (P282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318949	NM_004694.5(SLC16A6):c.815C>A (p.Thr272Asn)	ARSG, SLC16A6 (T272N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318948	NM_004694.5(SLC16A6):c.772G>C (p.Glu258Gln)	ARSG, SLC16A6 (E258Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264792	NM_004694.5(SLC16A6):c.734C>T (p.Thr245Ile)	ARSG, SLC16A6 (T245I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222962	NM_004694.5(SLC16A6):c.695G>A (p.Arg232Gln)	ARSG, SLC16A6 (R232Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261693	NM_004694.5(SLC16A6):c.676C>G (p.Leu226Val)	ARSG, SLC16A6 (L226V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163126	NM_004694.5(SLC16A6):c.665C>T (p.Ala222Val)	ARSG, SLC16A6 (A222V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163125	NM_004694.5(SLC16A6):c.656G>A (p.Arg219Gln)	ARSG, SLC16A6 (R219Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492710	NM_004694.5(SLC16A6):c.647A>G (p.Gln216Arg)	ARSG, SLC16A6 (Q216R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163124	NM_004694.5(SLC16A6):c.581T>G (p.Val194Gly)	ARSG, SLC16A6 (V194G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346062	NM_004694.5(SLC16A6):c.577A>G (p.Ile193Val)	ARSG, SLC16A6 (I193V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379079	NM_004694.5(SLC16A6):c.484G>A (p.Ala162Thr)	ARSG, SLC16A6 (A162T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473230	NM_004694.5(SLC16A6):c.461T>C (p.Val154Ala)	ARSG, SLC16A6 (V154A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163123	NM_004694.5(SLC16A6):c.383G>A (p.Gly128Glu)	ARSG, SLC16A6 (G128E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163122	NM_004694.5(SLC16A6):c.358G>A (p.Ala120Thr)	ARSG, SLC16A6 (A120T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3163121	NM_004694.5(SLC16A6):c.350T>C (p.Met117Thr)	ARSG, SLC16A6 (M117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163120	NM_004694.5(SLC16A6):c.334C>A (p.Gln112Lys)	ARSG, SLC16A6 (Q112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289316	NM_004694.5(SLC16A6):c.265G>A (p.Gly89Arg)	ARSG, SLC16A6 (G89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605276	NM_004694.5(SLC16A6):c.179A>G (p.Asn60Ser)	ARSG, SLC16A6 (N60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163119	NM_004694.5(SLC16A6):c.164G>C (p.Ser55Thr)	ARSG, SLC16A6 (S55T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269663	NM_004694.5(SLC16A6):c.85G>A (p.Val29Ile)	ARSG, SLC16A6 (V29I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403220	NM_004694.5(SLC16A6):c.38A>G (p.Asn13Ser)	ARSG, SLC16A6 (N13S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290789	NM_001267727.2(ARSG):c.98G>A (p.Gly33Glu)	ARSG (G33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335141	NM_001267727.2(ARSG):c.137T>C (p.Met46Thr)	ARSG (M46T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1378301	NM_001267727.2(ARSG):c.138G>A (p.Met46Ile)	ARSG (M46I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1023660	NM_001267727.2(ARSG):c.286C>G (p.Leu96Val)	ARSG (L96V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 938308	NM_001267727.2(ARSG):c.430G>A (p.Gly144Ser)	ARSG (G144S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3316557	NM_001267727.2(ARSG):c.439C>A (p.His147Asn)	ARSG (H147N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 842762	NM_001267727.2(ARSG):c.452G>A (p.Arg151His)	ARSG (R151H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3129895	NM_001267727.2(ARSG):c.650G>A (p.Ser217Asn)	ARSG, LOC130061524 (S201N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1405987	NM_001267727.2(ARSG):c.653G>T (p.Ser218Ile)	ARSG, LOC130061524 (S202I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3129896	NM_001267727.2(ARSG):c.698G>T (p.Arg233Leu)	ARSG, LOC130061524 (R217L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 970236	NM_001267727.2(ARSG):c.787C>A (p.Pro263Thr)	ARSG (P247T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 943586	NM_001267727.2(ARSG):c.793G>A (p.Gly265Ser)	ARSG (G249S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3129898	NM_001267727.2(ARSG):c.809G>A (p.Gly270Asp)	ARSG (G254D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 960918	NM_001267727.2(ARSG):c.827T>C (p.Met276Thr)	ARSG (M260T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3129899	NM_001267727.2(ARSG):c.915G>A (p.Pro305=)	ARSG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1480563	NM_001267727.2(ARSG):c.934C>G (p.Leu312Val)	ARSG (L312V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1005383	NM_001267727.2(ARSG):c.977G>A (p.Arg326His)	ARSG (R310H +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3316563	NM_001267727.2(ARSG):c.991C>A (p.Pro331Thr)	ARSG (P315T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1506726	NM_001267727.2(ARSG):c.1093G>A (p.Val365Met)	ARSG (V349M +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1064336	NM_001267727.2(ARSG):c.1120G>C (p.Ala374Pro)	ARSG (A358P +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2049242	NM_001267727.2(ARSG):c.1153C>T (p.Arg385Cys)	ARSG (R384C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 954298	NM_001267727.2(ARSG):c.1193G>A (p.Arg398Gln)	ARSG (R382Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1520621	NM_001267727.2(ARSG):c.1228A>G (p.Asn410Asp)	ARSG (N394D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1472951	NM_001267727.2(ARSG):c.1274T>G (p.Leu425Arg)	ARSG (L424R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1981237	NM_001267727.2(ARSG):c.1310C>T (p.Ala437Val)	ARSG, PRKAR1A (A436V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1002055	NM_001267727.2(ARSG):c.1412G>A (p.Gly471Asp)	ARSG, PRKAR1A (G470D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1375874	NM_001267727.2(ARSG):c.1418C>T (p.Ala473Val)	ARSG, PRKAR1A (A472V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1524091	NM_001267727.2(ARSG):c.1501G>A (p.Ala501Thr)	ARSG, PRKAR1A (A500T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2068129	NM_001267727.2(ARSG):c.1574C>T (p.Ala525Val)	ARSG, PRKAR1A (A524V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3190574	NM_017983.7(WIPI1):c.1322G>A (p.Gly441Asp)	ARSG, PRKAR1A +1 more (G441D +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2617959	NM_017983.7(WIPI1):c.1220G>A (p.Arg407Gln)	ARSG, PRKAR1A +1 more (R407Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519721	NM_017983.7(WIPI1):c.1214C>T (p.Ala405Val)	ARSG, PRKAR1A +1 more (A323V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513367	NM_017983.7(WIPI1):c.1184C>T (p.Thr395Met)	ARSG, PRKAR1A +1 more (T313M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190573	NM_017983.7(WIPI1):c.1094C>G (p.Thr365Arg)	ARSG, PRKAR1A +1 more (T283R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326954	NM_017983.7(WIPI1):c.1069C>T (p.His357Tyr)	ARSG, PRKAR1A +1 more (H275Y +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2299575	NM_017983.7(WIPI1):c.1046G>A (p.Gly349Glu)	ARSG, PRKAR1A +1 more (G267E +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3333126	NM_017983.7(WIPI1):c.1045G>A (p.Gly349Arg)	ARSG, PRKAR1A +1 more (G267R +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2544480	NM_017983.7(WIPI1):c.950T>A (p.Ile317Asn)	ARSG, PRKAR1A +1 more (I317N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225566	NM_017983.7(WIPI1):c.922C>T (p.Arg308Cys)	ARSG, PRKAR1A +1 more (R226C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255928	NM_017983.7(WIPI1):c.917C>T (p.Thr306Ile)	ARSG, PRKAR1A +1 more (T224I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333127	NM_017983.7(WIPI1):c.889A>G (p.Met297Val)	ARSG, PRKAR1A +1 more (M215V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588786	NM_017983.7(WIPI1):c.847T>C (p.Phe283Leu)	ARSG, PRKAR1A +1 more (F201L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325263	NM_017983.7(WIPI1):c.832T>A (p.Tyr278Asn)	ARSG, PRKAR1A +1 more (Y278N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2300421	NM_017983.7(WIPI1):c.793A>G (p.Thr265Ala)	ARSG, PRKAR1A +1 more (T183A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2393222	NM_017983.7(WIPI1):c.760G>A (p.Glu254Lys)	ARSG, PRKAR1A +1 more (E254K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333131	NM_017983.7(WIPI1):c.722G>A (p.Ser241Asn)	ARSG, PRKAR1A +1 more (S159N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249374	NM_017983.7(WIPI1):c.649C>G (p.Pro217Ala)	ARSG, PRKAR1A +1 more (P217A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280776	NM_017983.7(WIPI1):c.616G>A (p.Glu206Lys)	ARSG, PRKAR1A +1 more (E206K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3190578	NM_017983.7(WIPI1):c.556G>A (p.Glu186Lys)	ARSG, PRKAR1A +1 more (E104K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2515115	NM_017983.7(WIPI1):c.473C>T (p.Ala158Val)	ARSG, PRKAR1A +1 more (A76V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3333125	NM_017983.7(WIPI1):c.328C>T (p.Arg110Trp)	ARSG, PRKAR1A +1 more (R28W +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3333128	NM_017983.7(WIPI1):c.242G>A (p.Arg81Gln)	ARSG, PRKAR1A +1 more (R81Q)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3333129	NM_017983.7(WIPI1):c.194G>A (p.Arg65His)	ARSG, PRKAR1A +1 more (R65H)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3190577	NM_017983.7(WIPI1):c.187G>A (p.Val63Met)	ARSG, PRKAR1A +1 more (V63M)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance
Select item 3190576	NM_017983.7(WIPI1):c.175G>T (p.Asp59Tyr)	ARSG, PRKAR1A +1 more (D59Y)	Single nucleotide variant (3 prime UTR variant +4 more)	not specified	GUncertain significance

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Items: 85