ClinVar for Gene (Select 9853) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361967	NM_014806.5(RUSC2):c.2444C>A (p.Pro815His)	RUSC2 (P815H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3359121	NM_014806.5(RUSC2):c.1825C>T (p.Leu609Phe)	RUSC2 (L609F)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 61	GUncertain significance
Select item 3359114	NM_014806.5(RUSC2):c.3235+2T>A	RUSC2	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 61	GPathogenic
Select item 3315821	NM_014806.5(RUSC2):c.2354G>T (p.Ser785Ile)	RUSC2 (S785I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315820	NM_014806.5(RUSC2):c.1702G>C (p.Asp568His)	RUSC2 (D568H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315819	NM_014806.5(RUSC2):c.4509G>C (p.Leu1503Phe)	RUSC2 (L1503F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315818	NM_014806.5(RUSC2):c.2699G>T (p.Arg900Met)	RUSC2 (R22M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315817	NM_014806.5(RUSC2):c.3763G>A (p.Gly1255Arg)	RUSC2 (G1255R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315816	NM_014806.5(RUSC2):c.728C>T (p.Ser243Phe)	RUSC2 (S243F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315814	NM_014806.5(RUSC2):c.1646A>G (p.Lys549Arg)	RUSC2 (K549R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3251326	NM_014806.5(RUSC2):c.4227G>A (p.Trp1409Ter)	RUSC2 (W1409* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 61	GPathogenic
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3242301	GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1	ALDH1B1, ANKRD18A +45 more	Copy number loss	not provided	GPathogenic
Select item 3157233	NM_014806.5(RUSC2):c.926C>T (p.Ser309Phe)	RUSC2 (S309F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157231	NM_014806.5(RUSC2):c.575G>A (p.Arg192Gln)	RUSC2 (R192Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157230	NM_014806.5(RUSC2):c.4199G>A (p.Arg1400Gln)	RUSC2 (R1400Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157229	NM_014806.5(RUSC2):c.3623T>A (p.Leu1208Gln)	RUSC2 (L1208Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157228	NM_014806.5(RUSC2):c.2968C>G (p.Leu990Val)	RUSC2 (L990V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157227	NM_014806.5(RUSC2):c.2033G>A (p.Arg678Gln)	RUSC2 (R678Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157225	NM_014806.5(RUSC2):c.1795C>T (p.Pro599Ser)	RUSC2 (P599S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157224	NM_014806.5(RUSC2):c.1609C>A (p.Pro537Thr)	RUSC2 (P537T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3157223	NM_014806.5(RUSC2):c.1460C>A (p.Pro487His)	RUSC2 (P487H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3067965	NM_014806.5(RUSC2):c.992C>T (p.Ser331Phe)	RUSC2 (S331F)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 61	GUncertain significance
Select item 3063115	GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1	ALDH1B1, ANKRD18A +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3058679	NM_014806.5(RUSC2):c.258T>C (p.Ser86=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	RUSC2-related disorder	GLikely benign
Select item 3047565	NM_014806.5(RUSC2):c.2424C>A (p.Pro808=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	RUSC2-related disorder	GLikely benign
Select item 3023304	NM_014806.5(RUSC2):c.2181T>C (p.Arg727=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3019280	NM_014806.5(RUSC2):c.2664C>T (p.His888=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018955	NM_014806.5(RUSC2):c.4311G>A (p.Gln1437=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3018672	NM_014806.5(RUSC2):c.2581C>A (p.Arg861=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3016370	NM_014806.5(RUSC2):c.654C>T (p.Ser218=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3012755	NM_014806.5(RUSC2):c.432C>T (p.Ser144=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3009584	NM_014806.5(RUSC2):c.3342-15C>T	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008795	NM_014806.5(RUSC2):c.3342-11T>C	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007534	NM_014806.5(RUSC2):c.921C>T (p.Ser307=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3003027	NM_014806.5(RUSC2):c.3480A>G (p.Leu1160=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2995381	NM_014806.5(RUSC2):c.3693T>C (p.Gly1231=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992532	NM_014806.5(RUSC2):c.4047del (p.Asp1350fs)	RUSC2 (D1350fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2989735	NM_014806.5(RUSC2):c.2331G>A (p.Leu777=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2986017	NM_014806.5(RUSC2):c.4374C>T (p.His1458=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981660	NM_014806.5(RUSC2):c.2871C>G (p.Thr957=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978210	NM_014806.5(RUSC2):c.3236-5C>T	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972453	NM_014806.5(RUSC2):c.480G>A (p.Gly160=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2972135	NM_014806.5(RUSC2):c.3444G>A (p.Val1148=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970819	NM_014806.5(RUSC2):c.1395C>T (p.Thr465=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2970655	NM_014806.5(RUSC2):c.2520A>C (p.Ile840=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2970174	NM_014806.5(RUSC2):c.2656+8C>T	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964372	NM_014806.5(RUSC2):c.4512C>T (p.Thr1504=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961894	NM_014806.5(RUSC2):c.672C>T (p.Ser224=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2960578	NM_014806.5(RUSC2):c.15A>G (p.Pro5=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2960062	NM_014806.5(RUSC2):c.1848C>G (p.Pro616=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957020	NM_014806.5(RUSC2):c.3099C>T (p.Gly1033=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907649	NM_014806.5(RUSC2):c.300C>T (p.His100=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2900858	NM_014806.5(RUSC2):c.4425A>C (p.Arg1475=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895385	NM_014806.5(RUSC2):c.3393C>T (p.Ile1131=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2881145	NM_014806.5(RUSC2):c.3478C>T (p.Leu1160=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876734	NM_014806.5(RUSC2):c.3921A>G (p.Gly1307=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875927	NM_014806.5(RUSC2):c.1455A>T (p.Ser485=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2874342	NM_014806.5(RUSC2):c.183A>G (p.Gln61=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2868432	NM_014806.5(RUSC2):c.4347G>T (p.Pro1449=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2866801	NM_014806.5(RUSC2):c.3361del (p.Trp1121fs)	RUSC2 (W1121fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2863559	NM_014806.5(RUSC2):c.1026T>C (p.Ser342=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2860568	NM_014806.5(RUSC2):c.3389-14C>G	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856359	NM_014806.5(RUSC2):c.2412C>T (p.Pro804=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2854469	NM_014806.5(RUSC2):c.1888A>G (p.Met630Val)	RUSC2 (M630V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2854411	NM_014806.5(RUSC2):c.3720_3731del (p.Glu1243_Glu1246del)	RUSC2	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2852747	NM_014806.5(RUSC2):c.4530C>G (p.Thr1510=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2851469	NM_014806.5(RUSC2):c.2842+13G>A	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2850828	NM_014806.5(RUSC2):c.2658C>T (p.Ala886=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2849823	NM_014806.5(RUSC2):c.693C>T (p.Leu231=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2847128	NM_014806.5(RUSC2):c.2969_2983+15del	RUSC2	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 2842523	NM_014806.5(RUSC2):c.4546A>C (p.Asn1516His)	RUSC2 (N638H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2842216	NM_014806.5(RUSC2):c.3347G>C (p.Arg1116Pro)	RUSC2 (R238P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2841881	NM_014806.5(RUSC2):c.2670C>A (p.Ser890=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2841283	NM_014806.5(RUSC2):c.876T>C (p.His292=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2833656	NM_014806.5(RUSC2):c.1020T>G (p.Pro340=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2832548	NM_014806.5(RUSC2):c.4350-5C>T	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824519	NM_014806.5(RUSC2):c.314_317dup (p.Gln106fs)	RUSC2 (Q106fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2820840	NM_014806.5(RUSC2):c.4350-12C>T	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810763	NM_014806.5(RUSC2):c.2074C>T (p.Leu692=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2808950	NM_014806.5(RUSC2):c.3130G>C (p.Val1044Leu)	RUSC2 (V166L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2805872	NM_014806.5(RUSC2):c.4086G>A (p.Arg1362=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2804387	NM_014806.5(RUSC2):c.2657-18A>G	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804086	NM_014806.5(RUSC2):c.1956T>C (p.Ala652=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802976	NM_014806.5(RUSC2):c.2165T>C (p.Leu722Pro)	RUSC2 (L722P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2802811	NM_014806.5(RUSC2):c.3389-14C>A	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800707	NM_014806.5(RUSC2):c.2842+12G>A	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793514	NM_014806.5(RUSC2):c.4177C>T (p.Arg1393Ter)	RUSC2 (R1393* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2786888	NM_014806.5(RUSC2):c.2136C>T (p.Ala712=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2785199	NM_014806.5(RUSC2):c.1185T>C (p.Asn395=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2784031	NM_014806.5(RUSC2):c.2843-20G>T	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783029	NM_014806.5(RUSC2):c.1188C>T (p.Tyr396=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2780928	NM_014806.5(RUSC2):c.4281C>G (p.Arg1427=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2780180	NM_014806.5(RUSC2):c.4230G>A (p.Leu1410=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2769856	NM_014806.5(RUSC2):c.2656+7G>C	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769124	NM_014806.5(RUSC2):c.3388+15C>T	RUSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2762796	NM_014806.5(RUSC2):c.498T>G (p.Ala166=)	RUSC2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2760217	NM_014806.5(RUSC2):c.2826G>A (p.Leu942=)	RUSC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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