ClinVar for MedGen (Select 6222) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220936	NM_032025.5(EIF2A):c.1229A>C (p.Gln410Pro)	EIF2A (Q196P +4 more)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 3018359	NM_022464.5(SIL1):c.471A>T (p.Val157=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 3018347	NM_022464.5(SIL1):c.516T>C (p.Asp172=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2993862	NM_022464.5(SIL1):c.768-15G>T	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2988406	NM_022464.5(SIL1):c.864+20C>G	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2912187	NM_022464.5(SIL1):c.199C>T (p.Leu67=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2911603	NM_022464.5(SIL1):c.255C>T (p.Val85=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2899642	NM_022464.5(SIL1):c.945C>A (p.Val315=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2823925	NM_022464.5(SIL1):c.1218C>T (p.Thr406=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2814077	NM_022464.5(SIL1):c.685dup (p.Gln229fs)	SIL1 (Q229fs)	Duplication (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2804349	NM_022464.5(SIL1):c.846G>C (p.Pro282=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2779606	NM_022464.5(SIL1):c.767+18C>T	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2751968	NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2741609	NM_022464.5(SIL1):c.864+14C>A	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2739672	NM_022464.5(SIL1):c.921C>T (p.Phe307=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2733775	NM_022464.5(SIL1):c.1029G>A (p.Lys343=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2727440	NM_022464.5(SIL1):c.670T>A (p.Ser224Thr)	SIL1 (S224T)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2726702	NM_022464.5(SIL1):c.1029+14C>T	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2724110	NM_022464.5(SIL1):c.1368G>A (p.Leu456=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2722399	NM_022464.5(SIL1):c.1317T>C (p.Asp439=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2715455	NM_022464.5(SIL1):c.1156C>T (p.Leu386=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2689990	NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)	SIL1 (G444C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689989	NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)	SIL1 (E448K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689988	NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)	SIL1 (F225S)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689987	NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)	SIL1 (R162C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2689986	NM_022464.5(SIL1):c.-10-18951A>G	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2684383	NM_022464.5(SIL1):c.135G>A (p.Lys45=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2435946	NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)	SIL1 (E390Q)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435944	NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)	SIL1 (R159Q)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435943	NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)	SIL1 (R411G)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435942	NM_022464.5(SIL1):c.432G>T (p.Met144Ile)	SIL1 (M144I)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435941	NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)	SIL1 (N218S)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435940	NM_022464.5(SIL1):c.218C>T (p.Thr73Met)	SIL1 (T73M)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435938	NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)	SIL1 (A252T)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435937	NM_022464.5(SIL1):c.550A>G (p.Ile184Val)	SIL1 (I184V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435936	NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)	SIL1 (E61K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435934	NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)	SIL1 (E65K)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435933	NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)	SIL1 (S256G)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435932	NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)	SIL1 (Y212C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435931	NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)	SIL1 (T421A)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435930	NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)	SIL1 (N233D)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2435928	NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)	SIL1 (S455N)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2433358	NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)	SIL1 (Q417*)	Single nucleotide variant (nonsense)	Marinesco-Sjögren syndrome	GLikely pathogenic
Select item 2429282	NM_022464.5(SIL1):c.1038del (p.Glu347fs)	SIL1 (E347fs)	Deletion (frameshift variant)	Marinesco-Sjögren syndrome	GLikely pathogenic
Select item 2408096	NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)	SIL1 (R159W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2310048	NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)	SIL1 (F28L)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2271309	NM_022464.5(SIL1):c.526G>T (p.Val176Phe)	SIL1 (V176F)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2198273	NM_022464.5(SIL1):c.773C>T (p.Pro258Leu)	SIL1 (P258L)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2193803	NM_022464.5(SIL1):c.599A>C (p.Glu200Ala)	SIL1 (E200A)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2192423	NM_022464.5(SIL1):c.244+11del	SIL1	Deletion (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2189445	NM_022464.5(SIL1):c.1071C>T (p.Ser357=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2187739	NM_022464.5(SIL1):c.46A>C (p.Met16Leu)	SIL1 (M16L)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2185554	NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)	SIL1 (T382M)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2184327	NM_022464.5(SIL1):c.453+14T>C	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2165153	NM_022464.5(SIL1):c.454-8C>T	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2162869	NM_022464.5(SIL1):c.865-14G>T	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2161552	NM_022464.5(SIL1):c.988G>A (p.Val330Met)	SIL1 (V330M)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2159256	NM_022464.5(SIL1):c.767+19G>A	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2150876	NM_022464.5(SIL1):c.618C>T (p.Leu206=)	SIL1	Single nucleotide variant (synonymous variant)	SIL1-related condition +1 more	GLikely benign
Select item 2148658	NM_022464.5(SIL1):c.698A>G (p.Asn233Ser)	SIL1 (N233S)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2148009	NM_022464.5(SIL1):c.354-3C>A	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2146642	NM_022464.5(SIL1):c.454-10C>G	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2144639	NM_022464.5(SIL1):c.353+12A>G	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2143228	NM_022464.5(SIL1):c.487C>A (p.Pro163Thr)	SIL1 (P163T)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2141033	NM_022464.5(SIL1):c.585C>T (p.Ser195=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2140284	NM_022464.5(SIL1):c.1218C>A (p.Thr406=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2136336	NM_022464.5(SIL1):c.1030-18G>A	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GConflicting classifications of pathogenicity
Select item 2135945	NM_022464.5(SIL1):c.205G>A (p.Val69Met)	SIL1 (V69M)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome +1 more	GUncertain significance
Select item 2122619	NM_022464.5(SIL1):c.355C>T (p.Leu119=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2117550	NM_022464.5(SIL1):c.276G>A (p.Arg92=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2110690	NM_022464.5(SIL1):c.1094G>A (p.Arg365His)	SIL1 (R365H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2108680	NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)	SIL1 (P72L)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2103311	NM_022464.5(SIL1):c.261A>G (p.Ala87=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2090726	NM_022464.5(SIL1):c.643_645+21del	SIL1	Deletion (splice donor variant)	Marinesco-Sjögren syndrome	GLikely pathogenic
Select item 2089827	NM_022464.5(SIL1):c.815A>G (p.Lys272Arg)	SIL1 (K272R)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2080978	NM_022464.5(SIL1):c.729G>A (p.Lys243=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2080361	NM_022464.5(SIL1):c.271G>A (p.Val91Ile)	SIL1 (V91I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2080089	NM_022464.5(SIL1):c.1029+15C>T	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2080055	NM_022464.5(SIL1):c.1035del (p.Phe345fs)	SIL1 (F345fs)	Deletion (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2080028	NM_022464.5(SIL1):c.1066A>G (p.Met356Val)	SIL1 (M356V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2077130	NM_022464.5(SIL1):c.554T>C (p.Met185Thr)	SIL1 (M185T)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2077103	NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)	SIL1 (R187W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2069152	NM_022464.5(SIL1):c.9C>G (p.Pro3=)	SIL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2068673	NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)	SIL1 (G444V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2064226	NM_022464.5(SIL1):c.216G>A (p.Pro72=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2061311	NM_022464.5(SIL1):c.211C>T (p.His71Tyr)	SIL1 (H71Y)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2058707	NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)	SIL1 (R394C)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2057946	NM_022464.5(SIL1):c.837G>A (p.Thr279=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2057829	NM_022464.5(SIL1):c.245-15C>A	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2055616	NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro)	SIL1 (L336P)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2055572	NM_022464.5(SIL1):c.88del (p.Leu30fs)	SIL1 (L30fs)	Deletion (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2054736	NM_022464.5(SIL1):c.936del (p.Leu313fs)	SIL1 (L313fs)	Deletion (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2053156	NM_022464.5(SIL1):c.105+20A>G	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2052012	NM_022464.5(SIL1):c.645+16G>A	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2050647	NM_022464.5(SIL1):c.430A>G (p.Met144Val)	SIL1 (M144V)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GConflicting classifications of pathogenicity
Select item 2050185	NM_022464.5(SIL1):c.244+17T>C	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2049858	NM_022464.5(SIL1):c.1380G>C (p.Leu460=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2049361	NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del)	SIL1 (K343del)	Deletion (inframe_deletion)	Marinesco-Sjögren syndrome	GUncertain significance
Select item 2048967	NM_022464.5(SIL1):c.1030-10C>T	SIL1	Single nucleotide variant (intron variant)	Marinesco-Sjögren syndrome	GLikely benign
Select item 2048537	NM_022464.5(SIL1):c.829C>T (p.Leu277=)	SIL1	Single nucleotide variant (synonymous variant)	Marinesco-Sjögren syndrome	GLikely benign

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