ClinVar for MedGen (Select 1679527) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067827	NM_001330288.2(SMARCC2):c.1181A>T (p.Asp394Val)	SMARCC2 (D394V)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 3063603	NM_001330288.2(SMARCC2):c.1303T>C (p.Tyr435His)	SMARCC2 (Y435H)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2690048	NM_001330288.2(SMARCC2):c.2620G>A (p.Gly874Arg)	SMARCC2 (G843R +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2573052	NM_001330288.2(SMARCC2):c.3232G>A (p.Gly1078Ser)	SMARCC2 (G1047S +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2506488	NM_001330288.2(SMARCC2):c.1091del (p.Lys364fs)	SMARCC2 (K364fs)	Deletion (frameshift variant)	Coffin-Siris syndrome 8	GPathogenic
Select item 2500290	NM_001330288.2(SMARCC2):c.3221del (p.Pro1074fs)	SMARCC2 (P1043fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2442001	NM_001330288.2(SMARCC2):c.1396C>T (p.Arg466Ter)	SMARCC2 (R466*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 2436140	NM_001330288.2(SMARCC2):c.1172C>T (p.Thr391Met)	SMARCC2 (T391M)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436139	NM_001330288.2(SMARCC2):c.1496G>A (p.Arg499Lys)	SMARCC2 (R499K)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436138	NM_001330288.2(SMARCC2):c.1839C>A (p.Tyr613Ter)	SMARCC2 (Y582* +1 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436137	NM_001330288.2(SMARCC2):c.1807A>G (p.Met603Val)	SMARCC2 (M572V +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436136	NM_001330288.2(SMARCC2):c.1382+1G>A	SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GConflicting classifications of pathogenicity
Select item 2436135	NM_001330288.2(SMARCC2):c.2276A>G (p.Lys759Arg)	SMARCC2 (K728R +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2436134	NM_001330288.2(SMARCC2):c.1193A>C (p.Asn398Thr)	SMARCC2 (N398T)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 2431773	NM_001330288.2(SMARCC2):c.1496+2T>G	SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 2431451	NC_000012.12:g.(56167013_56168930)del	SMARCC2	Deletion	Coffin-Siris syndrome 8	GUncertain significance
Select item 2429193	NM_001330288.2(SMARCC2):c.1497-2A>G	SMARCC2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 1992356	NM_001330288.2(SMARCC2):c.1094_1097del (p.Lys365fs)	SMARCC2 (K365fs)	Microsatellite (frameshift variant)	Coffin-Siris syndrome 8	GPathogenic
Select item 1722383	NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)	SMARCC2 (I1097fs +1 more)	Deletion (frameshift variant +1 more)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 1710237	NM_001330288.2(SMARCC2):c.770A>G (p.Tyr257Cys)	SMARCC2 (Y257C)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1701781	NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr)	SMARCC2 (A1167T +1 more)	Single nucleotide variant (missense variant +1 more)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1701729	NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp)	SMARCC2 (A1002D +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1696500	NM_001330288.2(SMARCC2):c.111+2T>C	LOC130008058, SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1679607	NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro)	SMARCC2 (A1020P +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1342426	NM_001330288.2(SMARCC2):c.2716-3del	SMARCC2	Deletion (intron variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1302011	NM_001330288.2(SMARCC2):c.574C>T (p.Arg192Ter)	SMARCC2 (R192*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 1240756	NM_001330288.2(SMARCC2):c.708+46A>C	SMARCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1219096	NM_001330288.2(SMARCC2):c.805C>T (p.Arg269Ter)	SMARCC2 (R269*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8 +1 more	GPathogenic/Likely pathogenic
Select item 1213745	NM_001330288.2(SMARCC2):c.3092G>A (p.Ser1031Asn)	SMARCC2 (S1000N +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +2 more	GUncertain significance
Select item 1029510	NM_001330288.2(SMARCC2):c.3224G>T (p.Gly1075Val)	SMARCC2 (G1075V +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1029509	NM_001330288.2(SMARCC2):c.2999C>T (p.Ser1000Phe)	SMARCC2 (S1000F +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +1 more	GUncertain significance
Select item 1029508	NM_001330288.2(SMARCC2):c.2204A>G (p.Lys735Arg)	SMARCC2 (K735R +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1029507	NM_001330288.2(SMARCC2):c.137A>G (p.Asn46Ser)	SMARCC2 (N46S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 1029506	NM_001330288.2(SMARCC2):c.1310+1G>T	SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 996943	NM_001330288.2(SMARCC2):c.1142-1G>C	SMARCC2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 996851	NM_001330288.2(SMARCC2):c.158T>C (p.Val53Ala)	SMARCC2 (V53A)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 992305	NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs)	SMARCC2 (G1044fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 987900	NM_001330288.2(SMARCC2):c.1744-2A>G	SMARCC2	Single nucleotide variant (splice acceptor variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 986054	NM_001330288.2(SMARCC2):c.640A>G (p.Thr214Ala)	SMARCC2 (T214A)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +1 more	GUncertain significance
Select item 979193	NM_001330288.2(SMARCC2):c.3366_3374dup (p.Pro1123_Pro1125dup)	SMARCC2	Duplication (inframe_insertion +1 more)	Coffin-Siris syndrome 8	GUncertain significance
Select item 977614	NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter)	SMARCC2 (Q58*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8 +1 more	GConflicting classifications of pathogenicity
Select item 976148	NM_001330288.2(SMARCC2):c.2771A>G (p.Glu924Gly)	SMARCC2 (E893G +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8 +1 more	GLikely pathogenic
Select item 931991	NM_001330288.2(SMARCC2):c.1926+1G>A	SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GPathogenic
Select item 931614	NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs)	SMARCC2 (G1075fs +1 more)	Duplication (frameshift variant)	Coffin-Siris syndrome 8 +1 more	GLikely pathogenic
Select item 930686	NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser)	SMARCC2 (C145S)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GUncertain significance
Select item 807690	NM_001330288.2(SMARCC2):c.385A>G (p.Lys129Glu)	SMARCC2 (K129E)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GLikely pathogenic
Select item 623251	NM_001330288.2(SMARCC2):c.2779A>G (p.Met927Val)	SMARCC2 (M896V +1 more)	Single nucleotide variant (missense variant)	Coffin-Siris syndrome 8	GPathogenic
Select item 623250	NM_001330288.2(SMARCC2):c.723G>A (p.Trp241Ter)	SMARCC2 (W241*)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 8	GPathogenic
Select item 623249	NM_001330288.2(SMARCC2):c.1922T>C (p.Leu641Pro)	SMARCC2 (L610P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 623248	NM_001330288.2(SMARCC2):c.1311-3C>G	SMARCC2	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 623247	NM_001330288.2(SMARCC2):c.1926+2T>C	SMARCC2	Single nucleotide variant (splice donor variant)	Coffin-Siris syndrome 8	GPathogenic
Select item 522824	NM_001330288.2(SMARCC2):c.1926+1G>T	SMARCC2	Single nucleotide variant (splice donor variant)	SMARCC2-related disorder +1 more	GConflicting classifications of pathogenicity

ClinVar

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Links from MedGen

Items: 52