ClinVar for Gene (Select 4897) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 147

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301013	NM_001037132.4(NRCAM):c.2375A>G (p.Asp792Gly)	NRCAM (D757G +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3301012	NM_001037132.4(NRCAM):c.2158C>T (p.Arg720Cys)	NRCAM (R401C +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3301011	NM_001037132.4(NRCAM):c.529A>G (p.Ile177Val)	NRCAM (I177V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3301010	NM_001037132.4(NRCAM):c.1507G>A (p.Val503Ile)	NRCAM (V478I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3301009	NM_001037132.4(NRCAM):c.88C>G (p.Leu30Val)	NRCAM (L30V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3301008	NM_001037132.4(NRCAM):c.3479G>A (p.Arg1160Gln)	NRCAM (R1039Q +31 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3301007	NM_001037132.4(NRCAM):c.2947A>G (p.Thr983Ala)	NRCAM (T868A +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3301006	NM_001037132.4(NRCAM):c.2952G>C (p.Glu984Asp)	NRCAM (E965D +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3245840	NC_000007.13:g.(?_102937907)_(108155935_?)del	ATXN7L1, BCAP29 +29 more	Deletion	not provided	GPathogenic
Select item 3202062	NM_001037132.4(NRCAM):c.686A>T (p.Gln229Leu)	NRCAM (Q223L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202061	NM_001037132.4(NRCAM):c.640G>A (p.Glu214Lys)	NRCAM (E118K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202060	NM_001037132.4(NRCAM):c.605T>G (p.Leu202Arg)	NRCAM (L196R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202059	NM_001037132.4(NRCAM):c.586C>G (p.Gln196Glu)	NRCAM (Q100E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202058	NM_001037132.4(NRCAM):c.569A>G (p.Gln190Arg)	NRCAM (Q190R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202057	NM_001037132.4(NRCAM):c.505C>T (p.Pro169Ser)	NRCAM (P169S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202056	NM_001037132.4(NRCAM):c.3693C>A (p.His1231Gln)	NRCAM (H1111Q +32 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202055	NM_001037132.4(NRCAM):c.3410G>T (p.Gly1137Val)	NRCAM (G1022V +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202053	NM_001037132.4(NRCAM):c.331G>C (p.Glu111Gln)	NRCAM (E111Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202052	NM_001037132.4(NRCAM):c.2956A>G (p.Thr986Ala)	NRCAM (T880A +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202051	NM_001037132.4(NRCAM):c.278C>T (p.Pro93Leu)	NRCAM (P93L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202050	NM_001037132.4(NRCAM):c.274G>A (p.Asp92Asn)	NRCAM (D86N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3202049	NM_001037132.4(NRCAM):c.2747C>T (p.Pro916Leu)	NRCAM (P597L +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202048	NM_001037132.4(NRCAM):c.2701A>G (p.Lys901Glu)	NRCAM (K582E +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202047	NM_001037132.4(NRCAM):c.2690G>A (p.Arg897His)	NRCAM (R791H +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202046	NM_001037132.4(NRCAM):c.2074G>T (p.Gly692Trp)	NRCAM (G673W +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202044	NM_001037132.4(NRCAM):c.1605G>C (p.Lys535Asn)	NRCAM (K516N +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202043	NM_001037132.4(NRCAM):c.1547A>T (p.Gln516Leu)	NRCAM (Q401L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202042	NM_001037132.4(NRCAM):c.1477A>C (p.Lys493Gln)	NRCAM (K468Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202040	NM_001037132.4(NRCAM):c.1324C>G (p.Leu442Val)	NRCAM (L327V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202039	NM_001037132.4(NRCAM):c.1214C>T (p.Pro405Leu)	NRCAM (P386L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202038	NM_001037132.4(NRCAM):c.11A>C (p.Lys4Thr)	NRCAM (K4T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3202037	NM_001037132.4(NRCAM):c.1076C>T (p.Ala359Val)	NRCAM (A263V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3202036	NM_001037132.4(NRCAM):c.1058T>C (p.Ile353Thr)	NRCAM (I238T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3055402	NM_001037132.4(NRCAM):c.1484G>A (p.Ser495Asn)	NRCAM (S186N +8 more)	Single nucleotide variant (missense variant +1 more)	NRCAM-related disorder	GBenign
Select item 3053990	NM_001037132.4(NRCAM):c.2032A>G (p.Thr678Ala)	NRCAM (T359A +10 more)	Single nucleotide variant (missense variant +1 more)	NRCAM-related disorder	GLikely benign
Select item 3045606	NM_001037132.4(NRCAM):c.1770T>C (p.Ser590=)	NRCAM	Single nucleotide variant (synonymous variant +1 more)	NRCAM-related disorder	GLikely benign
Select item 3044200	NM_001037132.4(NRCAM):c.1357C>G (p.Pro453Ala)	NRCAM (P144A +8 more)	Single nucleotide variant (missense variant +1 more)	NRCAM-related disorder	GLikely benign
Select item 3044128	NM_001037132.4(NRCAM):c.2925G>A (p.Pro975=)	NRCAM	Single nucleotide variant (synonymous variant +2 more)	NRCAM-related disorder	GLikely benign
Select item 3042408	NM_001037132.4(NRCAM):c.2036-21GT[5]	NRCAM	Microsatellite (non-coding transcript variant +1 more)	NRCAM-related disorder	GLikely benign
Select item 3040067	NM_001037132.4(NRCAM):c.2997C>T (p.Gly999=)	NRCAM	Single nucleotide variant (synonymous variant +2 more)	NRCAM-related disorder	GLikely benign
Select item 3038986	NM_001037132.4(NRCAM):c.1075+4T>C	NRCAM	Single nucleotide variant (intron variant)	NRCAM-related disorder	GBenign
Select item 3038598	NM_001037132.4(NRCAM):c.2036-8G>A	NRCAM	Single nucleotide variant (non-coding transcript variant +1 more)	NRCAM-related disorder	GLikely benign
Select item 3032635	NM_001037132.4(NRCAM):c.2572A>G (p.Asn858Asp)	NRCAM (N539D +10 more)	Single nucleotide variant (missense variant +1 more)	NRCAM-related disorder	GLikely benign
Select item 3029360	NM_001037132.4(NRCAM):c.2043C>A (p.Ile681=)	NRCAM	Single nucleotide variant (synonymous variant +1 more)	NRCAM-related disorder	GLikely benign
Select item 2689605	NM_001037132.4(NRCAM):c.2581T>G (p.Leu861Val)	NRCAM (L542V +10 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	GUncertain significance
Select item 2689604	NM_001037132.4(NRCAM):c.362A>T (p.Tyr121Phe)	NRCAM (Y115F +2 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	GUncertain significance
Select item 2689603	NM_001037132.4(NRCAM):c.2536A>G (p.Met846Val)	NRCAM (M527V +10 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	GUncertain significance
Select item 2689602	NM_001037132.4(NRCAM):c.638G>A (p.Arg213His)	NRCAM (R117H +2 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	GUncertain significance
Select item 2685260	GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1	ATXN7L1, BCAP29 +26 more	Copy number loss	not provided	GPathogenic
Select item 2684503	GRCh37/hg19 7q31.1(chr7:107981349-110641907)x3	DNAJB9, IMMP2L +4 more	Copy number gain	not provided	GUncertain significance
Select item 2657944	NM_001037132.4(NRCAM):c.106C>A (p.Pro36Thr)	NRCAM (L36M +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2657943	NM_001037132.4(NRCAM):c.2201A>T (p.Glu734Val)	NRCAM (E415V +10 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2615467	NM_001037132.4(NRCAM):c.1459G>A (p.Glu487Lys)	NRCAM (E178K +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609457	NM_001037132.4(NRCAM):c.221C>T (p.Pro74Leu)	NRCAM (P68L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2609405	NM_001037132.4(NRCAM):c.3784G>T (p.Val1262Phe)	NRCAM (V1051F +32 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2608044	NM_001037132.4(NRCAM):c.3587G>A (p.Gly1196Asp)	NRCAM (G1013D +31 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608043	NM_001037132.4(NRCAM):c.2609C>G (p.Pro870Arg)	NRCAM (P854R +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606367	NM_001037132.4(NRCAM):c.2519C>T (p.Ser840Phe)	NRCAM (S521F +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604244	NM_001037132.4(NRCAM):c.3500A>G (p.Gln1167Arg)	NRCAM (Q1046R +31 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593498	NM_001037132.4(NRCAM):c.979A>C (p.Ile327Leu)	NRCAM (I18L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588539	NM_001037132.4(NRCAM):c.3782G>A (p.Gly1261Glu)	NRCAM (G1053E +32 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2560295	NM_001037132.4(NRCAM):c.313A>G (p.Ile105Val)	NRCAM (I99V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2558461	NM_001037132.4(NRCAM):c.644A>T (p.Asp215Val)	NRCAM (D209V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2557127	NM_001037132.4(NRCAM):c.1079C>T (p.Ala360Val)	NRCAM (A245V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2549518	NM_001037132.4(NRCAM):c.3490A>T (p.Ile1164Phe)	NRCAM (I1046F +31 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545907	NM_001037132.4(NRCAM):c.1844C>T (p.Thr615Met)	NRCAM (T306M +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499480	NM_001037132.4(NRCAM):c.26_29del (p.Lys9fs)	NRCAM (K9fs)	Deletion (frameshift variant +3 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	GLikely pathogenic
Select item 2475665	NM_001037132.4(NRCAM):c.3538C>T (p.Leu1180Phe)	NRCAM (L1056F +31 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2464218	NM_001037132.4(NRCAM):c.3353G>A (p.Arg1118Gln)	NRCAM (R1003Q +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2459378	NM_001037132.4(NRCAM):c.3889G>A (p.Val1297Ile)	NRCAM (V1076I +32 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2454365	NM_001037132.4(NRCAM):c.2561T>C (p.Val854Ala)	NRCAM (V739A +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424385	NC_000007.13:g.(?_104456677)_(108155935_?)del	ATXN7L1, BCAP29 +23 more	Deletion	not provided	GPathogenic
Select item 2409827	NM_001037132.4(NRCAM):c.2558G>A (p.Arg853His)	NRCAM (R852H +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2403720	NM_001037132.4(NRCAM):c.31C>T (p.Arg11Cys)	NRCAM (R11C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2387758	NM_001037132.4(NRCAM):c.1480G>A (p.Gly494Arg)	NRCAM (G398R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380110	NM_001037132.4(NRCAM):c.3350C>T (p.Ser1117Phe)	NRCAM (S1056F +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2379441	NM_001037132.4(NRCAM):c.36A>C (p.Leu12Phe)	NRCAM (L12F)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2374035	NM_001037132.4(NRCAM):c.3259G>A (p.Glu1087Lys)	NRCAM (E1056K +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2364661	NM_001037132.4(NRCAM):c.2795A>G (p.Asn932Ser)	NRCAM (N897S +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362700	NM_001037132.4(NRCAM):c.1856A>G (p.Asn619Ser)	NRCAM (N310S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360381	NM_001037132.4(NRCAM):c.2995G>A (p.Gly999Ser)	NRCAM (G893S +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2341130	NM_001037132.4(NRCAM):c.41C>T (p.Ala14Val)	NRCAM (A14V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2339429	NM_001037132.4(NRCAM):c.1312T>C (p.Tyr438His)	NRCAM (Y323H +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336787	NM_001037132.4(NRCAM):c.2902C>T (p.Leu968Phe)	NRCAM (L862F +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2317319	NM_001037132.4(NRCAM):c.3767T>C (p.Val1256Ala)	NRCAM (V1039A +32 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2303275	NM_001037132.4(NRCAM):c.3266A>C (p.Glu1089Ala)	NRCAM (E1058A +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2298347	NM_001037132.4(NRCAM):c.2645G>A (p.Arg882Gln)	NRCAM (R776Q +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291724	NM_001037132.4(NRCAM):c.1530G>C (p.Leu510Phe)	NRCAM (L395F +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288944	NM_001037132.4(NRCAM):c.2867C>T (p.Ser956Leu)	NRCAM (S937L +10 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2288374	NM_001037132.4(NRCAM):c.2125C>A (p.Leu709Met)	NRCAM (L699M +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287672	NM_001037132.4(NRCAM):c.2177G>A (p.Ser726Asn)	NRCAM (S611N +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278857	NM_001037132.4(NRCAM):c.1576G>T (p.Val526Phe)	NRCAM (V411F +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277047	NM_001037132.4(NRCAM):c.3478C>T (p.Arg1160Trp)	NRCAM (R1042W +31 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276184	NM_001037132.4(NRCAM):c.2297C>T (p.Thr766Met)	NRCAM (T747M +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245870	NM_001037132.4(NRCAM):c.2745G>T (p.Leu915Phe)	NRCAM (L596F +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241772	NM_001037132.4(NRCAM):c.1453A>G (p.Thr485Ala)	NRCAM (T460A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2237428	NM_001037132.4(NRCAM):c.2053G>A (p.Glu685Lys)	NRCAM (E570K +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221218	NM_001037132.4(NRCAM):c.671A>T (p.His224Leu)	NRCAM (H224L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2204943	NM_001037132.4(NRCAM):c.3716G>A (p.Arg1239Gln)	NRCAM (R1028Q +32 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance

<< First< Prev

Page of 2