ClinVar for Gene (Select 23020) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366022	NM_014014.5(SNRNP200):c.2762G>A (p.Gly921Asp)	SNRNP200 (G921D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365460	NM_014014.5(SNRNP200):c.1864G>A (p.Asp622Asn)	SNRNP200 (D622N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363642	NM_014014.5(SNRNP200):c.3097G>A (p.Glu1033Lys)	SNRNP200 (E1033K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3321196	NM_014014.5(SNRNP200):c.1236G>C (p.Glu412Asp)	SNRNP200 (E412D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321194	NM_014014.5(SNRNP200):c.5428G>A (p.Val1810Met)	SNRNP200 (V1810M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250739	NM_014014.5(SNRNP200):c.3596A>G (p.Lys1199Arg)	SNRNP200 (K1199R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242291	GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GUncertain significance
Select item 3167009	NM_014014.5(SNRNP200):c.5197C>T (p.His1733Tyr)	LOC126806272, SNRNP200 (H1733Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167007	NM_014014.5(SNRNP200):c.4625T>C (p.Met1542Thr)	SNRNP200 (M1542T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167006	NM_014014.5(SNRNP200):c.4324C>T (p.Arg1442Cys)	SNRNP200 (R1442C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167005	NM_014014.5(SNRNP200):c.4276A>C (p.Ile1426Leu)	SNRNP200 (I1426L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167004	NM_014014.5(SNRNP200):c.3610A>G (p.Ile1204Val)	SNRNP200 (I1204V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3167003	NM_014014.5(SNRNP200):c.3331A>C (p.Thr1111Pro)	SNRNP200 (T1111P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067720	NM_014014.5(SNRNP200):c.702T>A (p.Ala234=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3028869	NM_014014.5(SNRNP200):c.294G>A (p.Val98=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028868	NM_014014.5(SNRNP200):c.728A>G (p.Asn243Ser)	SNRNP200 (N243S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028867	NM_014014.5(SNRNP200):c.1128G>A (p.Arg376=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3028866	NM_014014.5(SNRNP200):c.1249dup (p.Thr417fs)	SNRNP200 (T417fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028865	NM_014014.5(SNRNP200):c.1376A>T (p.Glu459Val)	SNRNP200 (E459V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028864	NM_014014.5(SNRNP200):c.1703A>G (p.Glu568Gly)	SNRNP200 (E568G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028863	NM_014014.5(SNRNP200):c.1981G>A (p.Val661Ile)	SNRNP200 (V661I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028861	NM_014014.5(SNRNP200):c.2262G>A (p.Glu754=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028860	NM_014014.5(SNRNP200):c.2277A>G (p.Thr759=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3028859	NM_014014.5(SNRNP200):c.2443C>G (p.Leu815Val)	SNRNP200 (L815V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028858	NM_014014.5(SNRNP200):c.2769C>G (p.Ala923=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028856	NM_014014.5(SNRNP200):c.2800A>C (p.Thr934Pro)	SNRNP200 (T934P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028855	NM_014014.5(SNRNP200):c.4157C>T (p.Ala1386Val)	SNRNP200 (A1386V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028854	NM_014014.5(SNRNP200):c.4487A>G (p.Asn1496Ser)	SNRNP200 (N1496S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028853	NM_014014.5(SNRNP200):c.5096del (p.Glu1699fs)	LOC126806272, SNRNP200 (E1699fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028852	NM_014014.5(SNRNP200):c.5205C>T (p.His1735=)	LOC126806272, SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028851	NM_014014.5(SNRNP200):c.5288G>A (p.Arg1763His)	LOC126806272, SNRNP200 (R1763H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028850	NM_014014.5(SNRNP200):c.5933G>T (p.Gly1978Val)	SNRNP200 (G1978V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028849	NM_014014.5(SNRNP200):c.6216G>A (p.Lys2072=)	SNRNP200	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	ADRA2B, ANKRD23 +19 more	Copy number loss	not provided	GPathogenic
Select item 3018563	NM_014014.5(SNRNP200):c.645C>T (p.Asp215=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017249	NM_014014.5(SNRNP200):c.2743-8_2743-7delinsAA	SNRNP200	Indel (intron variant)	not provided	GUncertain significance
Select item 3014558	NM_014014.5(SNRNP200):c.358A>T (p.Ile120Phe)	SNRNP200 (I120F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012980	NM_014014.5(SNRNP200):c.4551T>C (p.Asn1517=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012979	NM_014014.5(SNRNP200):c.5454C>T (p.Ile1818=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012718	NM_014014.5(SNRNP200):c.1469G>A (p.Arg490His)	SNRNP200 (R490H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011215	NM_014014.5(SNRNP200):c.2625G>A (p.Glu875=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009427	NM_014014.5(SNRNP200):c.2941-8C>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007928	NM_014014.5(SNRNP200):c.5559A>G (p.Ala1853=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004197	NM_014014.5(SNRNP200):c.4421T>A (p.Met1474Lys)	SNRNP200 (M1474K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999913	NM_014014.5(SNRNP200):c.4801C>T (p.Leu1601=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994228	NM_014014.5(SNRNP200):c.1203+10A>G	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992342	NM_014014.5(SNRNP200):c.5551A>C (p.Asn1851His)	SNRNP200 (N1851H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992180	NM_014014.5(SNRNP200):c.6168C>T (p.Phe2056=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990304	NM_014014.5(SNRNP200):c.386G>A (p.Arg129His)	SNRNP200 (R129H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988809	NM_014014.5(SNRNP200):c.1157G>A (p.Arg386Gln)	SNRNP200 (R386Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985258	NM_014014.5(SNRNP200):c.1378-18G>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981216	NM_014014.5(SNRNP200):c.1734A>C (p.Glu578Asp)	SNRNP200 (E578D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981068	NM_014014.5(SNRNP200):c.3656A>T (p.Glu1219Val)	SNRNP200 (E1219V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979598	NM_014014.5(SNRNP200):c.795A>G (p.Ala265=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978722	NM_014014.5(SNRNP200):c.3258+8C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975383	NM_014014.5(SNRNP200):c.3397C>T (p.Arg1133Trp)	SNRNP200 (R1133W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972142	NM_014014.5(SNRNP200):c.5488+20G>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971140	NM_014014.5(SNRNP200):c.1119+9T>C	SNRNP200	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2970366	NM_014014.5(SNRNP200):c.5422A>T (p.Met1808Leu)	SNRNP200 (M1808L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967227	NM_014014.5(SNRNP200):c.4585-20T>G	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966743	NM_014014.5(SNRNP200):c.3762C>T (p.Phe1254=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966408	NM_014014.5(SNRNP200):c.2882C>T (p.Ala961Val)	SNRNP200 (A961V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965080	NM_014014.5(SNRNP200):c.2554-17C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964025	NM_014014.5(SNRNP200):c.5393A>T (p.Gln1798Leu)	SNRNP200 (Q1798L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961070	NM_014014.5(SNRNP200):c.30A>G (p.Gln10=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955413	NM_014014.5(SNRNP200):c.6093-12C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911188	NM_014014.5(SNRNP200):c.5754+4G>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2880791	NM_014014.5(SNRNP200):c.631-7T>G	SNRNP200	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2880548	NM_014014.5(SNRNP200):c.949T>A (p.Phe317Ile)	SNRNP200 (F317I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880523	NM_014014.5(SNRNP200):c.1217G>A (p.Arg406Gln)	SNRNP200 (R406Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880461	NM_014014.5(SNRNP200):c.2310+15G>C	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880007	NM_014014.5(SNRNP200):c.4162C>A (p.Gln1388Lys)	SNRNP200 (Q1388K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879882	NM_014014.5(SNRNP200):c.3484+18G>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877005	NM_014014.5(SNRNP200):c.4165-7C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876016	NM_014014.5(SNRNP200):c.2292A>G (p.Thr764=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874533	NM_014014.5(SNRNP200):c.3378G>T (p.Met1126Ile)	SNRNP200 (M1126I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872949	NM_014014.5(SNRNP200):c.2244G>C (p.Leu748=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872651	NM_014014.5(SNRNP200):c.3136A>G (p.Ile1046Val)	SNRNP200 (I1046V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869795	NM_014014.5(SNRNP200):c.3621_3626del (p.Asp1207_Gln1209delinsGlu)	SNRNP200	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2869075	NM_014014.5(SNRNP200):c.3627G>A (p.Gln1209=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868806	NM_014014.5(SNRNP200):c.6268-8C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868506	NM_014014.5(SNRNP200):c.5024+15T>G	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862541	NM_014014.5(SNRNP200):c.4164+11G>C	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861291	NM_014014.5(SNRNP200):c.2743-16G>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2861266	NM_014014.5(SNRNP200):c.1040T>G (p.Met347Arg)	SNRNP200 (M347R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857002	NM_014014.5(SNRNP200):c.4392+15T>A	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855266	NM_014014.5(SNRNP200):c.1843-16_1843-15insGTAGGCACTAGCCTTTGTAATGACTA	SNRNP200	Insertion (intron variant)	not provided	GUncertain significance
Select item 2851720	NM_014014.5(SNRNP200):c.2729T>C (p.Val910Ala)	SNRNP200 (V910A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848907	NM_014014.5(SNRNP200):c.2961A>G (p.Ile987Met)	SNRNP200 (I987M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844261	NM_014014.5(SNRNP200):c.5024+7A>G	SNRNP200	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2844137	NM_014014.5(SNRNP200):c.210-7C>T	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843792	NM_014014.5(SNRNP200):c.4728C>A (p.Ile1576=)	SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842915	NM_014014.5(SNRNP200):c.5133+16A>T	LOC126806272, SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841869	NM_014014.5(SNRNP200):c.2310+11G>C	SNRNP200	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830897	NM_014014.5(SNRNP200):c.1532A>G (p.Asn511Ser)	SNRNP200 (N511S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829302	NM_014014.5(SNRNP200):c.485G>A (p.Gly162Asp)	SNRNP200 (G162D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827329	NM_014014.5(SNRNP200):c.5545A>G (p.Ile1849Val)	SNRNP200 (I1849V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827056	NM_014014.5(SNRNP200):c.5151C>T (p.Phe1717=)	LOC126806272, SNRNP200	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823951	NM_014014.5(SNRNP200):c.2569_2570inv (p.Gly857Pro)	SNRNP200 (G857P)	Inversion (missense variant)	not provided	GUncertain significance

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