ClinVar for Gene (Select 9699) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154387	NM_001348484.3(RIMS2):c.95T>C (p.Leu32Pro)	LOC105375690, RIMS2 (L32P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154386	NM_001348484.3(RIMS2):c.874G>A (p.Asp292Asn)	RIMS2 (D262N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154385	NM_001348484.3(RIMS2):c.604A>G (p.Thr202Ala)	RIMS2 (T158A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154384	NM_001348484.3(RIMS2):c.587A>G (p.Tyr196Cys)	RIMS2 (Y156C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154383	NM_001348484.3(RIMS2):c.4631G>A (p.Arg1544His)	RIMS2 (R1094H +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154382	NM_001348484.3(RIMS2):c.4395G>C (p.Lys1465Asn)	RIMS2 (K1021N +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154381	NM_001348484.3(RIMS2):c.4151C>T (p.Thr1384Ile)	RIMS2 (T1101I +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154380	NM_001348484.3(RIMS2):c.3479C>G (p.Thr1160Arg)	RIMS2 (T1111R +22 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154379	NM_001348484.3(RIMS2):c.3424G>T (p.Ala1142Ser)	RIMS2 (A1073S +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3154378	NM_001348484.3(RIMS2):c.3163G>A (p.Glu1055Lys)	RIMS2 (E1051K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154377	NM_001348484.3(RIMS2):c.2881C>G (p.Pro961Ala)	RIMS2 (P694A +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154376	NM_001348484.3(RIMS2):c.2752G>A (p.Glu918Lys)	RIMS2 (E843K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154375	NM_001348484.3(RIMS2):c.2738G>A (p.Arg913His)	RIMS2 (R822H +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154374	NM_001348484.3(RIMS2):c.2416A>G (p.Met806Val)	RIMS2 (M523V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154373	NM_001348484.3(RIMS2):c.2015G>T (p.Arg672Leu)	RIMS2 (R436L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154372	NM_001348484.3(RIMS2):c.1693T>C (p.Ser565Pro)	RIMS2 (S565P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154371	NM_001348484.3(RIMS2):c.1313A>C (p.Gln438Pro)	RIMS2 (Q408P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2684550	GRCh37/hg19 8q22.3(chr8:104054189-105048015)x3	ATP6V1C1, BAALC +5 more	Copy number gain	not provided	GUncertain significance
Select item 2658739	NM_001348484.3(RIMS2):c.4260C>T (p.Phe1420=)	RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658738	NM_001348484.3(RIMS2):c.4162C>T (p.Leu1388=)	LOC130000948, RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2658737	NM_001348484.3(RIMS2):c.3269+8822G>A	RIMS2 (D1019N +6 more)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2658736	NM_001348484.3(RIMS2):c.2641T>C (p.Leu881=)	RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2630031	NM_001348484.3(RIMS2):c.1643G>C (p.Gly548Ala)	RIMS2 (G312A +5 more)	Single nucleotide variant (missense variant +1 more)	RIMS2-related disorder	GUncertain significance
Select item 2629969	NM_001348484.3(RIMS2):c.2922G>T (p.Leu974Phe)	RIMS2 (L691F +12 more)	Single nucleotide variant (missense variant +1 more)	RIMS2-related disorder	GUncertain significance
Select item 2618929	NM_001348484.3(RIMS2):c.2627C>T (p.Thr876Ile)	RIMS2 (T799I +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596733	NM_001348484.3(RIMS2):c.721T>C (p.Ser241Pro)	RIMS2 (S201P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593946	NM_001348484.3(RIMS2):c.2159C>T (p.Ala720Val)	RIMS2 (A633V +9 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2592237	NM_001348484.3(RIMS2):c.2470A>G (p.Ile824Val)	RIMS2 (I541V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591098	NM_001348484.3(RIMS2):c.3036A>T (p.Leu1012Phe)	RIMS2 (L921F +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590496	NM_001348484.3(RIMS2):c.1274C>A (p.Ser425Tyr)	RIMS2 (S425Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554885	NM_001348484.3(RIMS2):c.1111G>A (p.Glu371Lys)	RIMS2 (E367K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553447	NM_001348484.3(RIMS2):c.4814C>G (p.Ser1605Cys)	RIMS2 (S1101C +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552010	NM_001348484.3(RIMS2):c.4408G>A (p.Val1470Ile)	RIMS2 (V1004I +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544646	NM_001348484.3(RIMS2):c.2344C>A (p.Gln782Lys)	RIMS2 (Q499K +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536255	NM_001348484.3(RIMS2):c.2396C>T (p.Ser799Phe)	RIMS2 (S712F +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513482	NM_001348484.3(RIMS2):c.940C>T (p.Pro314Ser)	RIMS2 (P310S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493588	NM_001348484.3(RIMS2):c.4295G>A (p.Ser1432Asn)	RIMS2 (S1010N +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487310	NM_001348484.3(RIMS2):c.2786T>C (p.Leu929Ser)	RIMS2 (L842S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486875	NM_001348484.3(RIMS2):c.3392G>C (p.Arg1131Thr)	RIMS2 (R1082T +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2481810	NM_001348484.3(RIMS2):c.540G>T (p.Leu180Phe)	RIMS2 (L176F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471469	NM_001348484.3(RIMS2):c.77T>C (p.Met26Thr)	LOC105375690, RIMS2 (M26T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465667	NM_001348484.3(RIMS2):c.1336G>C (p.Ala446Pro)	RIMS2 (A210P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 2424157	NC_000008.10:g.(?_104412639)_(106815766_?)dup	DCAF13, DCSTAMP +5 more	Duplication	not provided	GUncertain significance
Select item 2408486	NM_001348484.3(RIMS2):c.3005A>G (p.His1002Arg)	RIMS2 (H925R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408241	NM_001348484.3(RIMS2):c.4469C>T (p.Pro1490Leu)	RIMS2 (P1071L +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406097	NM_001348484.3(RIMS2):c.2033G>A (p.Arg678His)	RIMS2 (R587H +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400251	NM_001348484.3(RIMS2):c.2050G>C (p.Val684Leu)	RIMS2 (V401L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392589	NM_001348484.3(RIMS2):c.1757-130C>A	RIMS2 (P561Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388290	NM_001348484.3(RIMS2):c.2003G>A (p.Arg668His)	RIMS2 (R385H +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376643	NM_001348484.3(RIMS2):c.670A>C (p.Lys224Gln)	RIMS2 (K220Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376383	NM_001348484.3(RIMS2):c.2914C>G (p.Arg972Gly)	RIMS2 (R901G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363566	NM_001348484.3(RIMS2):c.3502G>A (p.Ala1168Thr)	RIMS2 (A1093T +22 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362635	NM_001348484.3(RIMS2):c.2110T>A (p.Ser704Thr)	RIMS2 (S617T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362546	NM_001348484.3(RIMS2):c.3240G>A (p.Met1080Ile)	RIMS2 (M1033I +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361704	NM_001348484.3(RIMS2):c.3217C>G (p.Arg1073Gly)	RIMS2 (R1002G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356757	NM_001348484.3(RIMS2):c.2556G>T (p.Arg852Ser)	RIMS2 (R761S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355584	NM_001348484.3(RIMS2):c.3019C>A (p.Leu1007Ile)	RIMS2 (L1003I +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354380	NM_001348484.3(RIMS2):c.410A>T (p.Lys137Ile)	RIMS2 (K97I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350688	NM_001348484.3(RIMS2):c.785G>T (p.Gly262Val)	RIMS2 (G218V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349178	NM_001348484.3(RIMS2):c.844T>C (p.Ser282Pro)	RIMS2 (S242P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343765	NM_001348484.3(RIMS2):c.1379G>A (p.Arg460Gln)	RIMS2 (R420Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340038	NM_001348484.3(RIMS2):c.2389C>T (p.Arg797Cys)	RIMS2 (R561C +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331806	NM_001348484.3(RIMS2):c.667A>C (p.Lys223Gln)	RIMS2 (K179Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323949	NM_001348484.3(RIMS2):c.4696A>G (p.Met1566Val)	RIMS2 (M1067V +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310042	NM_001348484.3(RIMS2):c.3554A>C (p.Asp1185Ala)	RIMS2 (D1094A +22 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309109	NM_001348484.3(RIMS2):c.3509G>C (p.Arg1170Pro)	RIMS2 (R1063P +22 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305372	NM_001348484.3(RIMS2):c.2074C>T (p.Leu692Phe)	RIMS2 (L615F +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297103	NM_001348484.3(RIMS2):c.626A>T (p.Lys209Met)	RIMS2 (K165M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296140	NM_001348484.3(RIMS2):c.2417T>C (p.Met806Thr)	RIMS2 (M523T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291907	NM_001348484.3(RIMS2):c.3454C>T (p.His1152Tyr)	RIMS2 (H1045Y +22 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282596	NM_001348484.3(RIMS2):c.2420G>T (p.Ser807Ile)	RIMS2 (S730I +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280444	NM_001348484.3(RIMS2):c.144G>T (p.Lys48Asn)	LOC105375690, RIMS2 (K48N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278667	NM_001348484.3(RIMS2):c.1436C>T (p.Thr479Ile)	RIMS2 (T435I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271818	NM_001348484.3(RIMS2):c.4360A>G (p.Met1454Val)	RIMS2 (M1057V +31 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271377	NM_001348484.3(RIMS2):c.2071A>G (p.Met691Val)	RIMS2 (M455V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237915	NM_001348484.3(RIMS2):c.2708T>C (p.Met903Thr)	RIMS2 (M812T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237711	NM_001348484.3(RIMS2):c.2709G>A (p.Met903Ile)	RIMS2 (M832I +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210686	NM_001348484.3(RIMS2):c.2327C>T (p.Pro776Leu)	RIMS2 (P685L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208924	NM_001348484.3(RIMS2):c.2662A>G (p.Thr888Ala)	RIMS2 (T797A +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208340	NM_001348484.3(RIMS2):c.1481G>T (p.Arg494Leu)	RIMS2 (R454L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2160448	NM_001348484.3(RIMS2):c.2995+2T>C	RIMS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1808542	GRCh37/hg19 8q22.3(chr8:104370102-104770147)x1	CTHRC1, DCAF13 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1449127	NC_000008.10:g.(?_99135566)_(106815766_?)dup	ANKRD46, FZD6 +34 more	Duplication	Cohen syndrome	GUncertain significance
Select item 1341207	GRCh37/hg19 8q22.3(chr8:105048267-105481988)x3	DCSTAMP, DPYS +2 more	Copy number gain	not provided	GUncertain significance
Select item 974611	NM_001348484.3(RIMS2):c.1595C>G (p.Ser532Ter)	RIMS2 (S532* +5 more)	Single nucleotide variant (nonsense +1 more)	Cone-rod synaptic disorder syndrome, congenital nonprogressive	GPathogenic
Select item 974610	NM_001348484.3(RIMS2):c.3508C>T (p.Arg1170Ter)	RIMS2 (R1019* +21 more)	Single nucleotide variant (nonsense +1 more)	Cone-rod synaptic disorder syndrome, congenital nonprogressive	GPathogenic
Select item 974609	NM_001348484.3(RIMS2):c.4363+1G>A	RIMS2	Single nucleotide variant (splice donor variant)	Cone-rod synaptic disorder syndrome, congenital nonprogressive	GPathogenic
Select item 974608	NM_001348484.3(RIMS2):c.2884C>T (p.Arg962Ter)	RIMS2 (R679* +11 more)	Single nucleotide variant (nonsense +1 more)	Cone-rod synaptic disorder syndrome, congenital nonprogressive	GPathogenic
Select item 974607	NM_001348484.3(RIMS2):c.3126G>A (p.Trp1042Ter)	RIMS2 (W1002* +11 more)	Single nucleotide variant (nonsense +1 more)	Cone-rod synaptic disorder syndrome, congenital nonprogressive	GPathogenic
Select item 792904	NM_001348484.3(RIMS2):c.1757-196C>T	RIMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 792855	NM_001348484.3(RIMS2):c.831-5C>T	RIMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 790611	NM_001348484.3(RIMS2):c.42C>A (p.Ile14=)	LOC105375690, RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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