ClinVar for MedGen (Select 20552) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 2673

<< First< Prev

Page of 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075651	NM_000321.3(RB1):c.2781G>T (p.Glu927Asp)	RB1 (E77D +1 more)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 3075650	NM_000321.3(RB1):c.2539A>C (p.Lys847Gln)	RB1 (K847Q)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 3075649	NM_000321.3(RB1):c.2235AGA[1] (p.Glu748del)	RB1 (E748del)	Microsatellite (inframe_deletion)	Retinoblastoma	GUncertain significance
Select item 3075648	NM_000321.3(RB1):c.2108T>C (p.Ile703Thr)	RB1 (I703T)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075647	NM_000321.3(RB1):c.2018A>G (p.His673Arg)	RB1 (H673R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075646	NM_000321.3(RB1):c.1833A>G (p.Arg611=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GUncertain significance
Select item 3075645	NM_000321.3(RB1):c.1596C>G (p.Ile532Met)	RB1 (I532M)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075644	NM_000321.3(RB1):c.1363C>A (p.Arg455=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GUncertain significance
Select item 3075643	NM_000321.3(RB1):c.1161G>T (p.Met387Ile)	RB1 (M387I)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075642	NM_000321.3(RB1):c.819T>C (p.Ile273=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3075641	NM_000321.3(RB1):c.504A>G (p.Thr168=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3075640	NM_000321.3(RB1):c.468T>C (p.Asp156=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3075639	NM_000321.3(RB1):c.317C>A (p.Ala106Glu)	RB1 (A106E)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075638	NM_000321.3(RB1):c.25A>C (p.Thr9Pro)	RB1 (T9P)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3075392	NM_000321.3(RB1):c.384C>G (p.Val128=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3075390	NM_000321.3(RB1):c.2765C>T (p.Thr922Ile)	RB1 (T72I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 3075345	NM_000321.3(RB1):c.1348G>T (p.Val450Phe)	RB1 (V450F)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3074998	NM_000321.3(RB1):c.1735C>G (p.Arg579Gly)	RB1 (R579G)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3074980	NM_000321.3(RB1):c.2212-13T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3074977	NM_000321.3(RB1):c.2490-1399G>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3074777	NM_000321.3(RB1):c.705C>T (p.Leu235=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3074762	NM_000321.3(RB1):c.505T>C (p.Cys169Arg)	RB1 (C169R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3074722	NM_000321.3(RB1):c.608-15A>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3074657	NM_000321.3(RB1):c.501-5T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GUncertain significance
Select item 3074643	NM_000321.3(RB1):c.433G>T (p.Asp145Tyr)	RB1 (D145Y)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3074627	NC_000013.11:g.48303714C>T	RB1	Single nucleotide variant	Retinoblastoma	GUncertain significance
Select item 3074427	NM_000321.3(RB1):c.2232C>G (p.Ile744Met)	RB1 (I744M)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3074211	NM_000321.3(RB1):c.1215+6C>A	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GUncertain significance
Select item 3073976	NM_000321.3(RB1):c.2684C>G (p.Ser895Cys)	RB1 (S45C +1 more)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3073874	NM_000321.3(RB1):c.487A>G (p.Ser163Gly)	RB1 (S163G)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3073759	NM_000321.3(RB1):c.2747T>C (p.Met916Thr)	RB1 (M66T +1 more)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 3073650	NM_000321.3(RB1):c.2388C>G (p.Pro796=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3073542	NM_000321.3(RB1):c.2389T>G (p.Leu797Val)	RB1 (L797V)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3073399	NM_000321.3(RB1):c.1884A>G (p.Ala628=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3073381	NM_000321.3(RB1):c.2073G>A (p.Glu691=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3073333	NM_000321.3(RB1):c.443T>A (p.Met148Lys)	RB1 (M148K)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3073320	NM_000321.3(RB1):c.2683T>A (p.Ser895Thr)	RB1 (S45T +1 more)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3073310	NM_000321.3(RB1):c.133_135del (p.Val45del)	RB1 (V45del)	Deletion (inframe_deletion)	Retinoblastoma	GUncertain significance
Select item 3073176	NM_000321.3(RB1):c.2246A>C (p.Tyr749Ser)	RB1 (Y749S)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3073146	NM_000321.3(RB1):c.991C>G (p.Leu331Val)	RB1 (L331V)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3073057	NM_000321.3(RB1):c.797A>G (p.Gln266Arg)	RB1 (Q266R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3073031	NM_000321.3(RB1):c.726T>G (p.Ala242=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3072955	NM_000321.3(RB1):c.1422-13T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3072883	NM_000321.3(RB1):c.2467A>G (p.Thr823Ala)	RB1 (T823A)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3072604	NM_000321.3(RB1):c.607+4A>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GUncertain significance
Select item 3072549	NM_000321.3(RB1):c.48CGC[4] (p.Ala18_Glu19insAlaAla)	RB1	Microsatellite (inframe_insertion)	Retinoblastoma	GUncertain significance
Select item 3072529	NM_000321.3(RB1):c.708A>T (p.Lys236Asn)	RB1 (K236N)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3072417	NM_000321.3(RB1):c.1422-6C>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3072414	NM_000321.3(RB1):c.766G>C (p.Gly256Arg)	RB1 (G256R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3072290	NM_000321.3(RB1):c.31G>A (p.Ala11Thr)	RB1 (A11T)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3072128	NM_000321.3(RB1):c.381-13C>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3072079	NM_000321.3(RB1):c.2346A>G (p.Ile782Met)	RB1 (I782M)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3072066	NM_000321.3(RB1):c.1581T>C (p.Asp527=)	RB1	Single nucleotide variant (synonymous variant)	Retinoblastoma	GLikely benign
Select item 3072062	NM_000321.3(RB1):c.2490-14T>C	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3071800	NM_000321.3(RB1):c.2714C>T (p.Thr905Ile)	RB1 (T55I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinoblastoma	GUncertain significance
Select item 3071750	NM_000321.3(RB1):c.1393G>A (p.Glu465Lys)	RB1 (E465K)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3071711	NM_000321.3(RB1):c.159A>C (p.Glu53Asp)	RB1 (E53D)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3071585	NM_000321.3(RB1):c.590C>T (p.Thr197Ile)	RB1 (T197I)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3071544	NM_000321.3(RB1):c.1422-12T>G	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GUncertain significance
Select item 3071042	NM_000321.3(RB1):c.265-9dup	RB1	Duplication (intron variant)	Retinoblastoma	GLikely benign
Select item 3071010	NM_000321.3(RB1):c.2213C>A (p.Thr738Lys)	RB1 (T738K)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3070969	NM_000321.3(RB1):c.1340A>G (p.Lys447Arg)	RB1 (K447R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3070823	NM_000321.3(RB1):c.1039T>C (p.Ser347Pro)	RB1 (S347P)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3070571	NM_000321.3(RB1):c.501-8C>T	RB1	Single nucleotide variant (intron variant)	Retinoblastoma	GLikely benign
Select item 3070504	NM_000321.3(RB1):c.1010T>C (p.Leu337Ser)	RB1 (L337S)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
Select item 3069908	NM_000321.3(RB1):c.2490-1397_2490-1395del	RB1	Microsatellite (intron variant)	Retinoblastoma	GLikely benign
Select item 3069413	NM_000321.3(RB1):c.458A>G (p.Lys153Arg)	RB1 (K153R)	Single nucleotide variant (missense variant)	Retinoblastoma	GUncertain significance
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

<< First< Prev

Page of 27