NRCAM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
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 714356	NM_001037132.4(NRCAM):c.3853G>A (p.Ala1285Thr)	NRCAM (A1074T +32 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
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 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 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 100829	NM_001037132.4(NRCAM):c.3764T>G (p.Leu1255Arg)	NRCAM (L1162R +32 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 792086	NM_001037132.4(NRCAM):c.3744A>G (p.Lys1248=)	NRCAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 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 735358	NM_001037132.4(NRCAM):c.3606A>G (p.Glu1202=)	NRCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739248	NM_001037132.4(NRCAM):c.3598+8A>G	NRCAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 3040067	NM_001037132.4(NRCAM):c.2997C>T (p.Gly999=)	NRCAM	Single nucleotide variant (synonymous variant +2 more)	NRCAM-related condition	GLikely benign
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 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 3044128	NM_001037132.4(NRCAM):c.2925G>A (p.Pro975=)	NRCAM	Single nucleotide variant (synonymous variant +2 more)	NRCAM-related condition	GLikely benign
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 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 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 1329980	NM_001037132.4(NRCAM):c.2785C>T (p.Arg929Ter)	NRCAM (R610* +10 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities +1 more	GPathogenic
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 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 1329990	NM_001037132.4(NRCAM):c.2738G>A (p.Gly913Asp)	NRCAM (G594D +10 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities +1 more	GPathogenic
Select item 1329988	NM_001037132.4(NRCAM):c.2705A>C (p.Lys902Thr)	NRCAM (K583T +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 782027	NM_001037132.4(NRCAM):c.2699A>G (p.Glu900Gly)	NRCAM (E794G +10 more)	Single nucleotide variant (missense variant +1 more)	NRCAM-related condition +1 more	GLikely benign
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 1329982	NM_001037132.4(NRCAM):c.2647-2A>G	NRCAM	Single nucleotide variant (splice acceptor variant)	NRCAM-related disorder	GPathogenic
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 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 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 3032635	NM_001037132.4(NRCAM):c.2572A>G (p.Asn858Asp)	NRCAM (N539D +10 more)	Single nucleotide variant (missense variant +1 more)	NRCAM-related condition	GLikely benign
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 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 1329987	NM_001037132.4(NRCAM):c.2557C>T (p.Arg853Cys)	NRCAM (R534C +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 1257859	NM_001037132.4(NRCAM):c.2531-15C>T	NRCAM	Single nucleotide variant (intron variant)	not provided	GBenign
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 623458	NM_001037132.4(NRCAM):c.2411C>G (p.Ser804Cys)	NRCAM (S804C +10 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 1329981	NM_001037132.4(NRCAM):c.2297_2302delinsTC (p.Thr766fs)	NRCAM (T447fs +10 more)	Indel (frameshift variant +1 more)	NRCAM-related disorder	GPathogenic
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 746922	NM_001037132.4(NRCAM):c.2289G>A (p.Leu763=)	NRCAM	Single nucleotide variant (synonymous variant +1 more)	NRCAM-related condition +1 more	GLikely benign
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 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 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 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 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 3029360	NM_001037132.4(NRCAM):c.2043C>A (p.Ile681=)	NRCAM	Single nucleotide variant (synonymous variant +1 more)	NRCAM-related condition	GLikely benign
Select item 3038598	NM_001037132.4(NRCAM):c.2036-8G>A	NRCAM	Single nucleotide variant (non-coding transcript variant +1 more)	NRCAM-related condition	GLikely benign
Select item 3042408	NM_001037132.4(NRCAM):c.2036-21GT[5]	NRCAM	Microsatellite (intron variant +1 more)	NRCAM-related condition	GLikely benign
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 condition	GLikely benign
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 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 3045606	NM_001037132.4(NRCAM):c.1770T>C (p.Ser590=)	NRCAM	Single nucleotide variant (synonymous variant +1 more)	NRCAM-related condition	GLikely benign
Select item 1250798	NM_001037132.4(NRCAM):c.1633C>G (p.Pro545Ala)	NRCAM (P236A +8 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1270558	NM_001037132.4(NRCAM):c.1631-9A>G	NRCAM	Single nucleotide variant (intron variant)	not provided	GBenign
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 1279781	NM_001037132.4(NRCAM):c.1602G>A (p.Ala534=)	NRCAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 3055402	NM_001037132.4(NRCAM):c.1484G>A (p.Ser495Asn)	NRCAM (S186N +8 more)	Single nucleotide variant (missense variant +1 more)	NRCAM-related condition	GBenign
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 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 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 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 1329989	NM_001037132.4(NRCAM):c.1406A>G (p.Asn469Ser)	NRCAM (N160S +8 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities +1 more	GPathogenic
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 condition	GLikely benign
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 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 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 788543	NM_001037132.4(NRCAM):c.1147A>C (p.Arg383=)	NRCAM	Single nucleotide variant (synonymous variant +1 more)	NRCAM-related condition +1 more	GBenign
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 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 3038986	NM_001037132.4(NRCAM):c.1075+4T>C	NRCAM	Single nucleotide variant (intron variant)	NRCAM-related condition	GBenign
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 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 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 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 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 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 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 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 1329991	NM_001037132.4(NRCAM):c.590G>A (p.Gly197Asp)	NRCAM (G101D +2 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities +1 more	GPathogenic
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

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