ClinVar for MedGen (Select 220983) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067858	NM_003070.5(SMARCA2):c.4525G>C (p.Glu1509Gln)	SMARCA2 (E1433Q +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 2775434	NM_003070.5(SMARCA2):c.2736G>T (p.Trp912Cys)	SMARCA2 (W912C)	Single nucleotide variant (missense variant +1 more)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 2663824	NM_003070.5(SMARCA2):c.2566A>G (p.Met856Val)	SMARCA2 (M856V)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 2637963	NM_003070.5(SMARCA2):c.2290A>G (p.Thr764Ala)	SMARCA2 (T764A)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 2585430	NM_003070.5(SMARCA2):c.875C>T (p.Pro292Leu)	SMARCA2 (P292L)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2582642	NM_003070.5(SMARCA2):c.-37+1G>T	SMARCA2	Single nucleotide variant (splice donor variant)	Blepharophimosis-impaired intellectual development syndrome +1 more	GUncertain significance
Select item 2580925	NM_003070.5(SMARCA2):c.3655G>C (p.Ala1219Pro)	SMARCA2 (A1161P +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GPathogenic
Select item 2580162	NM_003070.5(SMARCA2):c.1258C>T (p.Arg420Cys)	SMARCA2 (R420C)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 2574701	NM_003070.5(SMARCA2):c.2431C>T (p.Arg811Cys)	SMARCA2 (R811C)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 2505577	NM_003070.5(SMARCA2):c.3670G>A (p.Glu1224Lys)	SMARCA2 (E1166K +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely benign
Select item 2505110	NM_003070.5(SMARCA2):c.4216G>A (p.Val1406Met)	SMARCA2 (V1406M)	Single nucleotide variant (missense variant +1 more)	Nicolaides-Baraitser syndrome	Gnot provided
Select item 2500089	NM_003070.5(SMARCA2):c.4295_4296insCAAGGAAAGAATTAC (p.Ser1432_Arg1433insLysGluArgIleThr)	SMARCA2	Insertion (inframe_indel +1 more)	Blepharophimosis-impaired intellectual development syndrome +1 more	GUncertain significance
Select item 2444239	NM_003070.5(SMARCA2):c.3026T>C (p.Ile1009Thr)	SMARCA2 (I1009T +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 2444104	NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)	SMARCA2 (P886Q +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 2431575	NM_003070.5(SMARCA2):c.1347+16dup	SMARCA2	Duplication (intron variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1805793	NM_003070.5(SMARCA2):c.800C>G (p.Pro267Arg)	SMARCA2 (P267R)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1805422	NM_003070.5(SMARCA2):c.2966C>G (p.Thr989Arg)	SMARCA2 (T931R +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 1805420	NM_003070.5(SMARCA2):c.2838A>C (p.Leu946Phe)	SMARCA2 (L888F +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GPathogenic
Select item 1805414	NM_003070.5(SMARCA2):c.3292G>A (p.Gly1098Ser)	SMARCA2 (G1040S +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GPathogenic
Select item 1738655	NM_003070.5(SMARCA2):c.4200-2A>G	SMARCA2	Single nucleotide variant (splice acceptor variant +1 more)	Nicolaides-Baraitser syndrome +1 more	GUncertain significance
Select item 1699260	NM_003070.5(SMARCA2):c.2126C>T (p.Ser709Leu)	SMARCA2 (S709L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1699236	NM_003070.5(SMARCA2):c.2914G>C (p.Ala972Pro)	SMARCA2 (A914P +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1698885	NM_003070.5(SMARCA2):c.1676GGA[2] (p.Arg561_Arg562del)	SMARCA2	Microsatellite (inframe_deletion +1 more)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1696589	NM_003070.5(SMARCA2):c.3763-1230G>C	SMARCA2	Single nucleotide variant (intron variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1687150	NM_003070.5(SMARCA2):c.2508C>A (p.Asp836Glu)	SMARCA2 (D836E)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1686216	NM_003070.5(SMARCA2):c.2258T>A (p.Leu753His)	SMARCA2 (L753H)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GPathogenic
Select item 1679674	NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met)	SMARCA2 (T211M)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GUncertain significance
Select item 1679168	NM_003070.5(SMARCA2):c.3505G>T (p.Val1169Phe)	SMARCA2 (V1111F +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1482718	NM_003070.5(SMARCA2):c.4708T>C (p.Phe1570Leu)	SMARCA2 (F228L +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1342463	NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu)	SMARCA2 (V1490L +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342334	NM_003070.5(SMARCA2):c.2348+8A>C	SMARCA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1333848	NM_003070.5(SMARCA2):c.2032A>G (p.Ile678Val)	SMARCA2 (I678V)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1320261	NM_003070.5(SMARCA2):c.3479C>G (p.Ala1160Gly)	SMARCA2 (A1102G +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GPathogenic
Select item 1319926	NM_003070.5(SMARCA2):c.1333C>T (p.Arg445Cys)	SMARCA2 (R445C)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1285425	NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met)	SMARCA2 (T1263M +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 1271266	NM_003070.5(SMARCA2):c.3079-25T>A	SMARCA2	Single nucleotide variant (intron variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign
Select item 1226808	NM_003070.5(SMARCA2):c.4199+46C>T	SMARCA2	Single nucleotide variant (intron variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign
Select item 1185431	NM_003070.5(SMARCA2):c.4360-79A>G	SMARCA2	Single nucleotide variant (intron variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign
Select item 1185430	NM_003070.5(SMARCA2):c.1347+16_1347+17insT	SMARCA2	Insertion (intron variant)	Blepharophimosis-impaired intellectual development syndrome +2 more	GBenign
Select item 1098643	NM_003070.5(SMARCA2):c.880G>A (p.Ala294Thr)	SMARCA2 (A294T)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1047931	NM_003070.5(SMARCA2):c.4262G>A (p.Arg1421Gln)	SMARCA2 (R107Q +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1032871	NM_003070.5(SMARCA2):c.4765G>C (p.Asp1589His)	SMARCA2 (D1589H +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1032870	NM_003070.5(SMARCA2):c.274G>A (p.Gly92Arg)	SMARCA2 (G92R)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1032869	NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg)	SMARCA2 (G752R)	Single nucleotide variant (missense variant)	SMARCA2-related BAFopathy +1 more	GLikely pathogenic
Select item 1029503	NM_003070.5(SMARCA2):c.4696G>A (p.Val1566Ile)	SMARCA2 (V1566I +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 1029502	NM_003070.5(SMARCA2):c.3448C>G (p.Pro1150Ala)	SMARCA2 (P1092A +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 992996	NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr)	SMARCA2 (I518T)	Single nucleotide variant (missense variant)	SMARCA2-related condition	GLikely pathogenic
Select item 988739	NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)	SMARCA2 (D1089E +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 984920	NM_003070.5(SMARCA2):c.3220C>G (p.Gln1074Glu)	SMARCA2 (Q1016E +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GPathogenic
Select item 982924	NM_003070.5(SMARCA2):c.3230C>G (p.Ser1077Cys)	SMARCA2 (S1019C +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely benign
Select item 982859	NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His)	SMARCA2 (R1047H +1 more)	Single nucleotide variant (missense variant)	Blepharophimosis-impaired intellectual development syndrome +1 more	GPathogenic
Select item 982825	NM_003070.5(SMARCA2):c.4461+3C>G	SMARCA2	Single nucleotide variant (intron variant)	Nicolaides-Baraitser syndrome	GLikely benign
Select item 981748	NM_003070.5(SMARCA2):c.2561A>T (p.His854Leu)	SMARCA2 (H854L)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GPathogenic
Select item 981747	NM_003070.5(SMARCA2):c.2383T>C (p.Trp795Arg)	SMARCA2 (W795R)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GPathogenic
Select item 981460	NM_003070.5(SMARCA2):c.3457-2A>T	SMARCA2	Single nucleotide variant (splice acceptor variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 976221	NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro)	SMARCA2 (Q1142P +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 976210	NM_003070.5(SMARCA2):c.4414A>C (p.Met1472Leu)	SMARCA2 (M130L +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 976144	NM_003070.5(SMARCA2):c.3252T>A (p.Asp1084Glu)	SMARCA2 (D1026E +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 976071	NM_003070.5(SMARCA2):c.2852A>G (p.Lys951Arg)	SMARCA2 (K893R +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 931617	NM_003070.5(SMARCA2):c.919G>A (p.Val307Met)	SMARCA2 (V307M)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 915203	NM_003070.5(SMARCA2):c.*670A>G	SMARCA2	Single nucleotide variant (3 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 915202	NM_003070.5(SMARCA2):c.*587T>C	SMARCA2	Single nucleotide variant (3 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 915172	NM_003070.5(SMARCA2):c.4673C>G (p.Pro1558Arg)	SMARCA2 (P216R +5 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 915171	NM_003070.5(SMARCA2):c.4646G>A (p.Arg1549Gln)	SMARCA2 (R1549Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 914998	NM_003070.5(SMARCA2):c.4247G>C (p.Gly1416Ala)	SMARCA2 (G1416A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 914997	NM_003070.5(SMARCA2):c.4206C>T (p.Asn1402=)	SMARCA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 914996	NM_003070.5(SMARCA2):c.4080T>G (p.Asp1360Glu)	SMARCA2 (D66E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 914955	NM_003070.5(SMARCA2):c.2070C>G (p.Ser690Arg)	SMARCA2 (S690R)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 914954	NM_003070.5(SMARCA2):c.2037-4C>A	SMARCA2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914909	NM_003070.5(SMARCA2):c.597C>T (p.Pro199=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GBenign
Select item 914908	NM_003070.5(SMARCA2):c.517C>T (p.Pro173Ser)	SMARCA2 (P173S)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GBenign
Select item 914528	NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 914487	NM_003070.5(SMARCA2):c.3981+11C>G	SMARCA2	Single nucleotide variant (intron variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 914439	NM_003070.5(SMARCA2):c.1812G>A (p.Lys604=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 914438	NM_003070.5(SMARCA2):c.1675A>C (p.Arg559=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GBenign
Select item 914437	NM_003070.5(SMARCA2):c.1599C>T (p.Thr533=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914397	NM_003070.5(SMARCA2):c.459G>A (p.Pro153=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome +1 more	GBenign/Likely benign
Select item 914396	NM_003070.5(SMARCA2):c.399C>T (p.His133=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 914395	NM_003070.5(SMARCA2):c.324T>A (p.Pro108=)	SMARCA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914394	NM_003070.5(SMARCA2):c.105A>G (p.Pro35=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913964	NM_003070.5(SMARCA2):c.*489A>G	SMARCA2	Single nucleotide variant (3 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913963	NM_003070.5(SMARCA2):c.*307C>T	SMARCA2	Single nucleotide variant (3 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913962	NM_003070.5(SMARCA2):c.*230T>C	SMARCA2	Single nucleotide variant (3 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913961	NM_003070.5(SMARCA2):c.*204G>A	SMARCA2	Single nucleotide variant (3 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913960	NM_003070.5(SMARCA2):c.*192G>C	SMARCA2	Single nucleotide variant (3 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913579	NM_003070.5(SMARCA2):c.*101A>C	SMARCA2	Single nucleotide variant (3 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913578	NM_003070.5(SMARCA2):c.*80T>C	SMARCA2	Single nucleotide variant (3 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913366	NM_003070.5(SMARCA2):c.3768G>A (p.Met1256Ile)	SMARCA2 (M1256I +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913365	NM_003070.5(SMARCA2):c.3633C>T (p.His1211=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913364	NM_003070.5(SMARCA2):c.3216C>T (p.Phe1072=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913318	NM_003070.5(SMARCA2):c.990C>T (p.Pro330=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913317	NM_003070.5(SMARCA2):c.961C>T (p.Leu321=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913316	NM_003070.5(SMARCA2):c.957C>G (p.Leu319=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GLikely benign
Select item 913315	NM_003070.5(SMARCA2):c.890C>A (p.Pro297Gln)	SMARCA2 (P297Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 913314	NM_003070.5(SMARCA2):c.876C>T (p.Pro292=)	SMARCA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 913313	NM_003070.5(SMARCA2):c.750A>T (p.Gln250His)	SMARCA2 (Q250H)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GLikely benign
Select item 913279	NM_003070.5(SMARCA2):c.-56G>A	LOC130001461, SMARCA2	Single nucleotide variant (5 prime UTR variant)	Nicolaides-Baraitser syndrome	GUncertain significance
Select item 913001	NM_003070.5(SMARCA2):c.2527-3T>C	SMARCA2	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 912952	NM_003070.5(SMARCA2):c.734A>T (p.Gln245Leu)	SMARCA2 (Q245L)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome +1 more	GBenign
Select item 912951	NM_003070.5(SMARCA2):c.699G>A (p.Gln233=)	SMARCA2	Single nucleotide variant (synonymous variant)	Nicolaides-Baraitser syndrome	GUncertain significance

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