ClinVar for MedGen (Select 20552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022248	NM_000321.3(RB1):c.2713+12T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3021135	NM_000321.3(RB1):c.2212-16T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3015078	NM_000321.3(RB1):c.666C>T (p.Val222=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3013144	NC_000013.11:g.48303741C>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 3013139	NM_000321.3(RB1):c.776G>C (p.Arg259Thr)	RB1 (R259T)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3013031	NM_000321.3(RB1):c.719-16T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3011807	NM_000321.3(RB1):c.808G>T (p.Asp270Tyr)	RB1 (D270Y)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3011590	NM_000321.3(RB1):c.321A>G (p.Ala107=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3009389	NR_046414.2(RB1-DT):n.25C>T	RB1, RB1-DT	Single nucleotide variant (non-coding transcript variant)	Retinoblastoma	GUncertain significance
Select item 3006352	NM_000321.3(RB1):c.380+13G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3004904	NM_000321.3(RB1):c.1370T>C (p.Met457Thr)	RB1 (M457T)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3003878	NM_000321.3(RB1):c.2568C>T (p.Asp856=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3003796	NM_000321.3(RB1):c.-128C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 3003617	NM_000321.3(RB1):c.1814+14A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3001395	NM_000321.3(RB1):c.34_39dup (p.Ala13_Ala14insThrAla)	RB1	Duplication (inframe_insertion)	Retinoblastoma	GUncertain significance
Select item 3001219	NM_000321.3(RB1):c.1683T>G (p.Leu561=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3000787	NM_000321.3(RB1):c.2325G>T (p.Arg775Ser)	RB1 (R775S)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2999297	NM_000321.3(RB1):c.-85G>C	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2998234	NM_000321.3(RB1):c.480A>C (p.Ala160=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2997517	NM_000321.3(RB1):c.2070T>A (p.Asn690Lys)	RB1 (N690K)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2995911	NM_000321.3(RB1):c.317C>T (p.Ala106Val)	RB1 (A106V)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2994844	NM_000321.3(RB1):c.1558G>A (p.Val520Met)	RB1 (V520M)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2994302	NM_000321.3(RB1):c.-98G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2993577	NM_000321.3(RB1):c.703C>G (p.Leu235Val)	RB1 (L235V)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2992729	NM_000321.3(RB1):c.2148T>C (p.Asn716=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2990182	NM_000321.3(RB1):c.854T>C (p.Ile285Thr)	RB1 (I285T)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2990152	NM_000321.3(RB1):c.82C>T (p.Pro28Ser)	RB1 (P28S)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2983616	NM_000321.3(RB1):c.-125A>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2982252	NM_000321.3(RB1):c.-157C>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2982090	NM_000321.3(RB1):c.2150T>C (p.Ile717Thr)	RB1 (I717T)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2980236	NM_000321.3(RB1):c.1383T>C (p.Leu461=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2973628	NM_000321.3(RB1):c.501-7T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2972700	NM_000321.3(RB1):c.1322T>C (p.Ile441Thr)	RB1 (I441T)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2972431	NM_000321.3(RB1):c.137+3G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GUncertain significance
Select item 2971784	NM_000321.3(RB1):c.264+11T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2971262	NM_000321.3(RB1):c.718+16A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2970372	NM_000321.3(RB1):c.1201A>T (p.Ile401Phe)	RB1 (I401F)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2968118	NM_000321.3(RB1):c.840A>T (p.Glu280Asp)	RB1 (E280D)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2966517	NM_000321.3(RB1):c.1906T>C (p.Phe636Leu)	RB1 (F636L)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2964850	NM_000321.3(RB1):c.-125A>G	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2962932	NM_000321.3(RB1):c.1960+11G>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2962928	NM_000321.3(RB1):c.1826C>T (p.Pro609Leu)	RB1 (P609L)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2962389	NM_000321.3(RB1):c.132C>T (p.Leu44=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2960634	NM_000321.3(RB1):c.-15C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2960455	NM_000321.3(RB1):c.2017C>T (p.His673Tyr)	RB1 (H673Y)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2958259	NM_000321.3(RB1):c.103C>G (p.Gln35Glu)	RB1 (Q35E)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2955519	NM_000321.3(RB1):c.1332+8G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2920668	NM_000321.3(RB1):c.1039dup (p.Ser347fs)	RB1 (S347fs)	Duplication (frameshift variant)	Retinoblastoma	GPathogenic
Select item 2919864	NM_000321.3(RB1):c.1054G>C (p.Glu352Gln)	RB1 (E352Q)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2919204	NM_000321.3(RB1):c.2571T>C (p.Arg857=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2918977	NM_000321.3(RB1):c.-37C>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2918498	NM_000321.3(RB1):c.1695+11A>G	RB1	Single nucleotide variant (synonymous variant +1 more)	Retinoblastoma	GLikely benign
Select item 2918322	NM_000321.3(RB1):c.1961-17T>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2917985	NM_000321.3(RB1):c.-152C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2916939	NM_000321.3(RB1):c.137+15C>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2916354	NM_000321.3(RB1):c.862-11A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2915954	NM_000321.3(RB1):c.2489+14C>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2915874	NM_000321.3(RB1):c.137+7G>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2915624	NM_000321.3(RB1):c.2713+18C>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2915304	NM_000321.3(RB1):c.940-9del	RB1	Deletion (intron variant)	Retinoblastoma	GBenign
Select item 2915146	NM_000321.3(RB1):c.-158G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2914859	NM_000321.3(RB1):c.1696-12T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2913747	NM_000321.3(RB1):c.1650A>G (p.Leu550=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2913676	NM_000321.3(RB1):c.891A>C (p.Ile297=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2912983	NC_000013.11:g.48303742G>A	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 2912776	NM_000321.3(RB1):c.2490-86A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2912693	NM_000321.3(RB1):c.381-12T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2912443	NM_000321.3(RB1):c.1128-19C>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2912237	NM_000321.3(RB1):c.2490-65G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2912117	NM_000321.3(RB1):c.1960+20C>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2911886	NM_000321.3(RB1):c.97C>T (p.Pro33Ser)	RB1 (P33S)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2911180	NM_000321.3(RB1):c.2770A>C (p.Asn924His)	RB1 (N924H +1 more)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 2911100	NM_000321.3(RB1):c.1742G>T (p.Gly581Val)	RB1 (G581V)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2910341	NM_000321.3(RB1):c.771_772del (p.Asn258fs)	RB1 (N258fs)	Deletion (frameshift variant)	Retinoblastoma	GPathogenic
Select item 2907279	NM_000321.3(RB1):c.-126C>T	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2905918	NM_000321.3(RB1):c.348T>C (p.Thr116=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2904522	NM_000321.3(RB1):c.2663+16G>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2903655	NM_000321.3(RB1):c.1594A>G (p.Ile532Val)	RB1 (I532V)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2901567	NM_000321.3(RB1):c.800T>C (p.Leu267Pro)	RB1 (L267P)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2899770	NM_000321.3(RB1):c.-123G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2899769	NR_046414.2(RB1-DT):n.19_20delinsTT	RB1, RB1-DT	Indel (non-coding transcript variant)	Retinoblastoma	GUncertain significance
Select item 2898791	NM_000321.3(RB1):c.1390-10T>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2897996	NM_000321.3(RB1):c.1333-18del	RB1	Deletion (intron variant)	Retinoblastoma	GLikely benign
Select item 2895491	NM_000321.3(RB1):c.1832G>A (p.Arg611Lys)	RB1 (R611K)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2893837	NM_000321.3(RB1):c.440C>T (p.Ala147Val)	RB1 (A147V)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2892271	NM_000321.3(RB1):c.512T>C (p.Leu171Pro)	RB1 (L171P)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2892096	NM_000321.3(RB1):c.2521-16A>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2891399	NM_000321.3(RB1):c.1294A>G (p.Lys432Glu)	RB1 (K432E)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2891136	NM_000321.3(RB1):c.2231T>G (p.Ile744Ser)	RB1 (I744S)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2889857	NM_000321.3(RB1):c.-79G>A	RB1	Single nucleotide variant (5 prime UTR variant)	Retinoblastoma	GUncertain significance
Select item 2889662	NR_046414.2(RB1-DT):n.24G>C	RB1, RB1-DT	Single nucleotide variant (non-coding transcript variant)	Retinoblastoma +1 more	GConflicting classifications of pathogenicity
Select item 2889215	NM_000321.3(RB1):c.381-4G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2888145	NM_000321.3(RB1):c.2490-47G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2887948	NM_000321.3(RB1):c.2655A>C (p.Ala885=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2887939	NM_000321.3(RB1):c.822T>C (p.Ile274=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 2887734	NM_000321.3(RB1):c.2490-59C>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2887509	NM_000321.3(RB1):c.264+15A>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 2887151	NM_000321.3(RB1):c.779G>A (p.Ser260Asn)	RB1 (S260N)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2887112	NM_000321.3(RB1):c.809A>T (p.Asp270Val)	RB1 (D270V)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 2885023	NM_000321.3(RB1):c.2181A>C (p.Ala727=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign

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