ClinVar for MedGen (Select 934771) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258084	NM_001145358.2(SIN3A):c.1511T>A (p.Val504Asp)	SIN3A (V504D)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 3255061	NM_001145358.2(SIN3A):c.1017_1021del (p.Arg340fs)	SIN3A (R340fs)	Deletion (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 3255060	NM_001145358.2(SIN3A):c.965dup (p.Asp323fs)	SIN3A (D323fs)	Duplication (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 3255058	NM_001145358.2(SIN3A):c.92A>G (p.His31Arg)	SIN3A (H31R)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 3236064	NM_001145358.2(SIN3A):c.2552_2553insC (p.Val851_Lys852insTer)	SIN3A	Insertion (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 3234067	NM_001145358.2(SIN3A):c.1810C>T (p.Gln604Ter)	SIN3A (Q604*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 3024264	NM_001145358.2(SIN3A):c.1526+1G>T	SIN3A	Single nucleotide variant (splice donor variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 2672077	NM_001145358.2(SIN3A):c.394C>T (p.Gln132Ter)	SIN3A (Q132*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	Gnot provided
Select item 2572427	NM_001145358.2(SIN3A):c.474-1G>A	SIN3A	Single nucleotide variant (splice acceptor variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 2504096	NM_001145358.2(SIN3A):c.3384dup	SIN3A	Duplication (splice acceptor variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 2498622	NM_001145358.2(SIN3A):c.3025C>T (p.Gln1009Ter)	SIN3A (Q1009*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2442061	NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)	SIN3A	Duplication (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 2441706	NM_001145358.2(SIN3A):c.2506G>T (p.Glu836Ter)	SIN3A (E836*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 2435954	NM_001145358.2(SIN3A):c.2498A>T (p.Asp833Val)	SIN3A (D833V)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 2435951	NM_001145358.2(SIN3A):c.619C>G (p.Gln207Glu)	SIN3A (Q207E)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 2435950	NM_001145358.2(SIN3A):c.3653C>G (p.Thr1218Ser)	SIN3A (T1218S)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GConflicting classifications of pathogenicity
Select item 2435949	NM_001145358.2(SIN3A):c.3200T>C (p.Met1067Thr)	SIN3A (M1067T)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 2435948	NM_001145358.2(SIN3A):c.2310T>C (p.Gly770=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 2435947	NM_001145358.2(SIN3A):c.3620A>G (p.His1207Arg)	SIN3A (H1207R)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 2175766	NM_001145358.2(SIN3A):c.1250C>T (p.Pro417Leu)	SIN3A (P417L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805544	NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)	SIN3A (R471*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1803072	NM_001145358.2(SIN3A):c.366+5T>C	SIN3A	Single nucleotide variant (intron variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 1709753	NM_001145358.2(SIN3A):c.172_173del (p.Val58fs)	SIN3A (V58fs)	Deletion (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 1709481	NM_001145358.2(SIN3A):c.2915G>T (p.Gly972Val)	SIN3A (G972V)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1709297	NM_001145358.2(SIN3A):c.1430C>T (p.Ala477Val)	SIN3A (A477V)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1708246	NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)	SIN3A (Y1262fs)	Deletion (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 1701674	NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser)	SIN3A (G96S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1700222	NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter)	SIN3A (Q117*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 1696625	NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His)	SIN3A (R1205H)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1683675	NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs)	SIN3A (S421fs)	Duplication (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 1342579	NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1342510	NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg)	SIN3A (G829R)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1342453	NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys)	SIN3A (R1116C)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1338870	NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs)	SIN3A (N1158fs)	Duplication (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 1333264	NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs)	SIN3A (I1016fs)	Microsatellite (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 1332968	NM_001145358.2(SIN3A):c.3592-21T>A	SIN3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1331651	NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter)	SIN3A (R718*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation +1 more	GPathogenic
Select item 1328147	NM_001145358.2(SIN3A):c.2842A>G (p.Lys948Glu)	SIN3A (K948E)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1325072	NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)	SIN3A (R935*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic/Likely pathogenic
Select item 1319928	NM_001145358.2(SIN3A):c.2063C>T (p.Pro688Leu)	SIN3A (P688L)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1308659	NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs)	SIN3A (R984fs)	Duplication (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 1307207	NM_001145358.2(SIN3A):c.2197G>C (p.Gly733Arg)	SIN3A (G733R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299295	NM_001145358.2(SIN3A):c.3640G>A (p.Val1214Ile)	SIN3A (V1214I)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1274358	NM_001145358.2(SIN3A):c.3592-20T>A	SIN3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213737	NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg)	SIN3A (H458R)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1184396	NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe)	SIN3A (S71F)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation +1 more	GUncertain significance
Select item 1098647	NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser)	SIN3A (P351S)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1065454	NM_001145358.2(SIN3A):c.1015C>T (p.Gln339Ter)	SIN3A (Q339*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 1036145	NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln)	SIN3A (R928Q)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation +1 more	GUncertain significance
Select item 1031168	NM_001145358.2(SIN3A):c.776A>C (p.His259Pro)	SIN3A (H259P)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 1031167	NM_001145358.2(SIN3A):c.2258_2259dup (p.Glu754fs)	SIN3A (E754fs)	Duplication (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 1031166	NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe)	SIN3A (L669F)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 1031165	NM_001145358.2(SIN3A):c.1229del (p.Lys410fs)	SIN3A (K410fs)	Deletion (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 930683	NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)	SIN3A (S289*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 803108	NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His)	SIN3A (L669H)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 779901	NM_001145358.2(SIN3A):c.1428T>C (p.Ser476=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related intellectual disability syndrome due to a point mutation +1 more	GBenign/Likely benign
Select item 779900	NM_001145358.2(SIN3A):c.3466A>T (p.Met1156Leu)	SIN3A (M1156L)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome due to a point mutation +1 more	GBenign/Likely benign
Select item 560386	NM_001145358.2(SIN3A):c.848dup (p.His283fs)	SIN3A (H283fs)	Duplication (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 560141	Single allele	COMMD4, CSPG4 +8 more	Duplication	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 450996	NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs)	SIN3A (K948fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 450723	NM_001145358.2(SIN3A):c.2809_2810del (p.Lys937fs)	SIN3A (K937fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 431101	NM_001145358.2(SIN3A):c.3118_3119del (p.Gln1040fs)	SIN3A (Q1040fs)	Microsatellite (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 253074	NM_001145358.2(SIN3A):c.3310C>T (p.Arg1104Ter)	SIN3A (R1104*)	Single nucleotide variant (nonsense)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 253073	NM_001145358.2(SIN3A):c.2955_2956del (p.Glu985fs)	SIN3A (E985fs)	Microsatellite (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic/Likely pathogenic
Select item 253072	NM_001145358.2(SIN3A):c.1759del (p.Ser587fs)	SIN3A (S587fs)	Deletion (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 253071	NC_000015.10:g.75410285_75410288del	SIN3A	Deletion	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic
Select item 253070	NM_001145358.2(SIN3A):c.803dup (p.Leu269fs)	SIN3A (L269fs)	Duplication (frameshift variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GPathogenic

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Items: 68