9699[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	RRM2B, RSPO2 +188 more	Copy number loss	See cases	GPathogenic
Select item 147649	GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1	ATP6V1C1, AZIN1 +154 more	Copy number loss	See cases	GPathogenic
Select item 144641	GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1	ABRA, ANGPT1 +154 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 790611	NM_001348484.3(RIMS2):c.42C>A (p.Ile14=)	LOC105375690, RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 3314361	NM_001348484.3(RIMS2):c.465C>G (p.Phe155Leu)	RIMS2 (F115L +1 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 720429	NM_001348484.3(RIMS2):c.692C>T (p.Thr231Ile)	RIMS2 (T187I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 721728	NM_001348484.3(RIMS2):c.747A>G (p.Arg249=)	RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 730455	NM_001348484.3(RIMS2):c.817A>G (p.Ile273Val)	RIMS2 (I229V +3 more)	Single nucleotide variant (missense variant +1 more)	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 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 737363	NM_001348484.3(RIMS2):c.847G>T (p.Val283Leu)	RIMS2 (V47L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 780777	NM_001348484.3(RIMS2):c.924C>T (p.Thr308=)	RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 716390	NM_001348484.3(RIMS2):c.992A>T (p.Asp331Val)	RIMS2 (D287V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 711041	NM_001348484.3(RIMS2):c.1233G>A (p.Arg411=)	RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 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 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 3314354	NM_001348484.3(RIMS2):c.1346A>T (p.Glu449Val)	RIMS2 (E405V +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 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 3314355	NM_001348484.3(RIMS2):c.1439C>A (p.Pro480His)	RIMS2 (P244H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314359	NM_001348484.3(RIMS2):c.1448G>A (p.Ser483Asn)	RIMS2 (S439N +5 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 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 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 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 3314362	NM_001348484.3(RIMS2):c.1705T>A (p.Tyr569Asn)	RIMS2 (Y525N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 792904	NM_001348484.3(RIMS2):c.1757-196C>T	RIMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 747145	NM_001348484.3(RIMS2):c.1757-110G>A	RIMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773763	NM_001348484.3(RIMS2):c.2002C>T (p.Arg668Cys)	RIMS2 (R385C +9 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 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 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 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 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 2593946	NM_001348484.3(RIMS2):c.2159C>T (p.Ala720Val)	RIMS2 (A633V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314356	NM_001348484.3(RIMS2):c.2305A>G (p.Ile769Val)	RIMS2 (I533V +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773764	NM_001348484.3(RIMS2):c.2309+9G>T	RIMS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 776370	NM_001348484.3(RIMS2):c.2310-6T>C	RIMS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 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 718153	NM_001348484.3(RIMS2):c.2367C>T (p.Ser789=)	RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 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 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 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 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 752737	NM_001348484.3(RIMS2):c.2439T>C (p.Asp813=)	RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 709423	NM_001348484.3(RIMS2):c.2531A>C (p.Asp844Ala)	RIMS2 (D757A +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 3337520	NM_001348484.3(RIMS2):c.2605A>G (p.Lys869Glu)	RIMS2 (K586E +12 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2658736	NM_001348484.3(RIMS2):c.2641T>C (p.Leu881=)	RIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 2160448	NM_001348484.3(RIMS2):c.2995+2T>C	RIMS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic

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