ClinVar for Gene (Select 22901) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 3251973	NM_001267727.2(ARSG):c.407-2A>C	ARSG	Single nucleotide variant (splice acceptor variant +1 more)	Usher syndrome, type 4	GLikely pathogenic
Select item 3243185	NC_000017.10:g.(?_66397481)_(66397611_?)dup	ARSG	Duplication	not provided	GPathogenic
Select item 3243184	NC_000017.10:g.(?_66347696)_(66347847_?)del	ARSG	Deletion	not provided	GPathogenic
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 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
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 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 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 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 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 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 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 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 3129899	NM_001267727.2(ARSG):c.915G>A (p.Pro305=)	ARSG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 3063496	GRCh37/hg19 17q24.2-24.3(chr17:66271342-67205346)x3	ABCA10, ABCA6 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3048656	NM_001267727.2(ARSG):c.*10T>C	ARSG, PRKAR1A	Single nucleotide variant (3 prime UTR variant +1 more)	ARSG-related disorder	GLikely benign
Select item 3047301	NM_017983.7(WIPI1):c.1152C>T (p.Thr384=)	WIPI1, ARSG +1 more	Single nucleotide variant (synonymous variant +2 more)	WIPI1-related disorder	GLikely benign
Select item 3045393	NM_017983.7(WIPI1):c.687G>A (p.Met229Ile)	ARSG, PRKAR1A +1 more (M147I +1 more)	Single nucleotide variant (missense variant +2 more)	WIPI1-related disorder	GLikely benign
Select item 3023717	NM_001267727.2(ARSG):c.1280G>A (p.Arg427His)	ARSG (R427H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008398	NM_001267727.2(ARSG):c.407-15T>C	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007817	NM_001267727.2(ARSG):c.957C>T (p.Phe319=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005869	NM_001267727.2(ARSG):c.705-12C>G	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005499	NM_001267727.2(ARSG):c.1234G>A (p.Gly412Arg)	ARSG (G396R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995732	NM_001267727.2(ARSG):c.723C>T (p.Phe241=)	ARSG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2990020	NM_001267727.2(ARSG):c.455-17G>A	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980009	NM_001267727.2(ARSG):c.984G>C (p.Gly328=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968166	NM_001267727.2(ARSG):c.217A>G (p.Arg73Gly)	ARSG (R73G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962931	NM_001267727.2(ARSG):c.945T>C (p.Ser315=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875267	NM_001267727.2(ARSG):c.1092-4G>T	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860488	NM_001267727.2(ARSG):c.1154_1155del (p.Arg385fs)	ARSG (R369fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2852504	NM_001267727.2(ARSG):c.1395T>C (p.Ala465=)	ARSG, PRKAR1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833004	NM_001267727.2(ARSG):c.829dup (p.Asp277fs)	ARSG (D276fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2831948	NM_001267727.2(ARSG):c.1413_1429del (p.Gly472fs)	ARSG, PRKAR1A (G472fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2814719	NM_001267727.2(ARSG):c.901+16C>T	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812551	NM_001267727.2(ARSG):c.454+9T>G	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810288	NM_001267727.2(ARSG):c.1125G>A (p.Leu375=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803842	NM_001267727.2(ARSG):c.1304-6C>T	ARSG, PRKAR1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800211	NM_001267727.2(ARSG):c.960T>C (p.Thr320=)	ARSG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798944	NM_001267727.2(ARSG):c.1212+16A>T	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795458	NM_001267727.2(ARSG):c.1429G>C (p.Ala477Pro)	ARSG, PRKAR1A (A477P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777969	NM_001267727.2(ARSG):c.454+17G>A	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764339	NM_001267727.2(ARSG):c.1213-16T>C	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2723864	NM_001267727.2(ARSG):c.390C>A (p.Tyr130Ter)	ARSG (Y130*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2694196	NM_001267727.2(ARSG):c.902-6T>G	ARSG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648150	NM_004694.5(SLC16A6):c.549C>T (p.Leu183=)	ARSG, SLC16A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 2576533	NM_001267727.2(ARSG):c.705-3940_982+2952del	ARSG	Deletion (splice acceptor variant +1 more)	Usher syndrome, type 4	GPathogenic
Select item 2576532	NM_001267727.2(ARSG):c.588C>A (p.Tyr196Ter)	ARSG (Y196* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome, type 4	GPathogenic
Select item 2576531	NM_001267727.2(ARSG):c.275T>C (p.Leu92Pro)	ARSG (L92P)	Single nucleotide variant (missense variant)	Usher syndrome, type 4	GPathogenic
Select item 2576530	NM_001267727.2(ARSG):c.1212+1G>A	ARSG	Single nucleotide variant (splice donor variant)	Usher syndrome, type 4	GPathogenic
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 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 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 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 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 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 2426028	NC_000017.10:g.(?_66364669)_(66364905_?)dup	ARSG	Duplication	not provided	GUncertain significance
Select item 2426027	NC_000017.10:g.(?_66352788)_(66352965_?)del	ARSG	Deletion	not provided	GUncertain significance
Select item 2412753	NM_001267727.2(ARSG):c.663_664del (p.Lys222fs)	ARSG, LOC130061524 (K206fs +1 more)	Deletion (frameshift variant)	Usher syndrome, type 4	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 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 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 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 2335141	NM_001267727.2(ARSG):c.137T>C (p.Met46Thr)	ARSG (M46T)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 2290789	NM_001267727.2(ARSG):c.98G>A (p.Gly33Glu)	ARSG (G33E)	Single nucleotide variant (missense variant)	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 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 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 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 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 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

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