"GeneDx"[submitter] AND "SIN3A"[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364322	NM_001145358.2(SIN3A):c.3758C>G (p.Thr1253Ser)	SIN3A (T1253S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504080	NM_001145358.2(SIN3A):c.3640del (p.Trp1213_Val1214insTer)	SIN3A	Deletion (nonsense)	not provided	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 1314367	NM_001145358.2(SIN3A):c.3561T>A (p.Tyr1187Ter)	SIN3A (Y1187*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 452387	NM_001145358.2(SIN3A):c.3497A>G (p.Glu1166Gly)	SIN3A (E1166G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364332	NM_001145358.2(SIN3A):c.3464C>G (p.Thr1155Ser)	SIN3A (T1155S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806681	NM_001145358.2(SIN3A):c.3459G>T (p.Lys1153Asn)	SIN3A (K1153N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307873	NM_001145358.2(SIN3A):c.3428A>C (p.Gln1143Pro)	SIN3A (Q1143P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432491	NM_001145358.2(SIN3A):c.3400del (p.Arg1134fs)	SIN3A (R1134fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 452141	NM_001145358.2(SIN3A):c.3298G>C (p.Asp1100His)	SIN3A (D1100H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704024	NM_001145358.2(SIN3A):c.3187T>C (p.Cys1063Arg)	SIN3A (C1063R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098348	NM_001145358.2(SIN3A):c.3179A>G (p.Asp1060Gly)	SIN3A (D1060G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2580391	NM_001145358.2(SIN3A):c.3082AAT[2] (p.Asn1030del)	SIN3A (N1030del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2136159	NM_001145358.2(SIN3A):c.3089A>T (p.Asn1030Ile)	SIN3A (N1030I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662163	NM_001145358.2(SIN3A):c.3062C>G (p.Thr1021Ser)	SIN3A (T1021S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375722	NM_001145358.2(SIN3A):c.3040G>A (p.Asp1014Asn)	SIN3A (D1014N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376045	NM_001145358.2(SIN3A):c.3021+3G>T	SIN3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2428794	NM_001145358.2(SIN3A):c.2956A>G (p.Met986Val)	SIN3A (M986V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198270	NM_001145358.2(SIN3A):c.2923G>A (p.Asp975Asn)	SIN3A (D975N)	Single nucleotide variant (missense variant)	SIN3A-related disorder +1 more	GUncertain significance
Select item 3343515	NM_001145358.2(SIN3A):c.2864T>A (p.Val955Glu)	SIN3A (V955E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369228	NM_001145358.2(SIN3A):c.2849C>A (p.Pro950His)	SIN3A (P950H)	Single nucleotide variant (missense variant)	not provided	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 2661936	NM_001145358.2(SIN3A):c.2809A>G (p.Lys937Glu)	SIN3A (K937E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424338	NM_001145358.2(SIN3A):c.2689C>T (p.Arg897Ter)	SIN3A (R897*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 489258	NM_001145358.2(SIN3A):c.2675G>A (p.Trp892Ter)	SIN3A (W892*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3367579	NM_001145358.2(SIN3A):c.2599C>G (p.Leu867Val)	SIN3A (L867V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343624	NM_001145358.2(SIN3A):c.2525T>C (p.Met842Thr)	SIN3A (M842T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213323	NM_001145358.2(SIN3A):c.2455T>G (p.Phe819Val)	SIN3A (F819V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577837	NM_001145358.2(SIN3A):c.2447T>C (p.Met816Thr)	SIN3A (M816T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576718	NM_001145358.2(SIN3A):c.2403G>T (p.Gln801His)	SIN3A (Q801H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662271	NM_001145358.2(SIN3A):c.2369C>T (p.Ala790Val)	SIN3A (A790V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304312	NM_001145358.2(SIN3A):c.2320G>C (p.Gly774Arg)	SIN3A (G774R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290170	NM_001145358.2(SIN3A):c.2278-19T>G	SIN3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449849	NM_001145358.2(SIN3A):c.2277+4A>G	SIN3A	Single nucleotide variant (intron variant)	not provided	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 1695850	NM_001145358.2(SIN3A):c.1994A>G (p.His665Arg)	SIN3A (H665R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253367	NM_001145358.2(SIN3A):c.1984G>A (p.Glu662Lys)	SIN3A (E662K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424426	NM_001145358.2(SIN3A):c.1924C>T (p.Arg642Cys)	SIN3A (R642C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620463	NM_001145358.2(SIN3A):c.1912A>T (p.Lys638Ter)	SIN3A (K638*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1313731	NM_001145358.2(SIN3A):c.1908A>G (p.Ile636Met)	SIN3A (I636M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452550	NM_001145358.2(SIN3A):c.1903_1908del (p.Ala635_Ile636del)	SIN3A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 451316	NM_001145358.2(SIN3A):c.1888A>G (p.Ile630Val)	SIN3A (I630V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342758	NM_001145358.2(SIN3A):c.1846C>T (p.Arg616Cys)	SIN3A (R616C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1206448	NM_001145358.2(SIN3A):c.1814A>G (p.Tyr605Cys)	SIN3A (Y605C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303870	NM_001145358.2(SIN3A):c.1799C>T (p.Ser600Phe)	SIN3A (S600F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579879	NM_001145358.2(SIN3A):c.1773G>A (p.Trp591Ter)	SIN3A (W591*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3373200	NM_001145358.2(SIN3A):c.1764C>G (p.Phe588Leu)	SIN3A (F588L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489312	NM_001145358.2(SIN3A):c.1738-1G>A	SIN3A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 489302	NM_001145358.2(SIN3A):c.1675C>T (p.Arg559Ter)	SIN3A (R559*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 520687	NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter)	SIN3A (R553*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3340873	NM_001145358.2(SIN3A):c.1551G>A (p.Trp517Ter)	SIN3A (W517*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2504515	NM_001145358.2(SIN3A):c.1521C>A (p.Phe507Leu)	SIN3A (F507L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312252	NM_001145358.2(SIN3A):c.1474C>A (p.Gln492Lys)	SIN3A (Q492K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253379	NM_001145358.2(SIN3A):c.1463T>C (p.Val488Ala)	SIN3A (V488A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367408	NM_001145358.2(SIN3A):c.1456T>C (p.Cys486Arg)	SIN3A (C486R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313119	NM_001145358.2(SIN3A):c.1454G>A (p.Arg485His)	SIN3A (R485H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700769	NM_001145358.2(SIN3A):c.1445A>G (p.Asn482Ser)	SIN3A (N482S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313021	NM_001145358.2(SIN3A):c.1412G>A (p.Arg471Gln)	SIN3A (R471Q)	Single nucleotide variant (missense variant)	not provided	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 3340815	NM_001145358.2(SIN3A):c.1403A>T (p.Asp468Val)	SIN3A (D468V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663138	NM_001145358.2(SIN3A):c.1385C>A (p.Thr462Lys)	SIN3A (T462K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302567	NM_001145358.2(SIN3A):c.1373_1375del (p.His458_Gly459delinsArg)	SIN3A	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 817201	NM_001145358.2(SIN3A):c.1366dup (p.Ser456fs)	SIN3A (S456fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3369901	NM_001145358.2(SIN3A):c.1352C>G (p.Ser451Cys)	SIN3A (S451C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252251	NM_001145358.2(SIN3A):c.1283G>T (p.Arg428Leu)	SIN3A (R428L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370153	NM_001145358.2(SIN3A):c.1276C>G (p.Gln426Glu)	SIN3A (Q426E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501388	NM_001145358.2(SIN3A):c.1222G>C (p.Val408Leu)	SIN3A (V408L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444535	NM_001145358.2(SIN3A):c.1196C>G (p.Ser399Cys)	SIN3A (S399C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708918	NM_001145358.2(SIN3A):c.1009-9A>G	SIN3A	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 1307727	NM_001145358.2(SIN3A):c.1001C>G (p.Thr334Arg)	SIN3A (T334R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371787	NM_001145358.2(SIN3A):c.944A>G (p.Lys315Arg)	SIN3A (K315R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574763	NM_001145358.2(SIN3A):c.901C>A (p.Pro301Thr)	SIN3A (P301T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817978	NM_001145358.2(SIN3A):c.763del (p.Gln255fs)	SIN3A (Q255fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3371355	NM_001145358.2(SIN3A):c.716_730dup (p.Pro243_Gln244insProGlnProAlaPro)	SIN3A	Duplication	not provided	GUncertain significance
Select item 2577819	NM_001145358.2(SIN3A):c.656A>T (p.Gln219Leu)	SIN3A (Q219L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364422	NM_001145358.2(SIN3A):c.602A>G (p.Asn201Ser)	SIN3A (N201S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375756	NM_001145358.2(SIN3A):c.481A>G (p.Thr161Ala)	SIN3A (T161A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2501365	NM_001145358.2(SIN3A):c.393C>G (p.Asp131Glu)	SIN3A (D131E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700788	NM_001145358.2(SIN3A):c.366+1G>T	SIN3A	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1311372	NM_001145358.2(SIN3A):c.307G>A (p.Ala103Thr)	SIN3A (A103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686669	NM_001145358.2(SIN3A):c.275A>G (p.Gln92Arg)	SIN3A (Q92R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700913	NM_001145358.2(SIN3A):c.155C>T (p.Thr52Met)	SIN3A (T52M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700916	NM_001145358.2(SIN3A):c.69C>G (p.Ser23Arg)	SIN3A (S23R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329579	NM_001145358.2(SIN3A):c.23_24del (p.Gln8fs)	SIN3A (Q8fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 59383	GRCh38/hg38 15q24.2(chr15:75432164-75626896)x1	LOC121530594, LOC130057607 +14 more	Copy number loss	See cases	GPathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253861	GRCh37/hg19 15q24.2(chr15:75562397-76030552)x3	COMMD4, SNUPN +10 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 3362089	NM_001145358.2(SIN3A):c.2434A>G (p.Ile812Val)	SIN3A (I812V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361961	NM_001145358.2(SIN3A):c.2458A>C (p.Ile820Leu)	SIN3A (I820L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361487	NM_001145358.2(SIN3A):c.3018A>C (p.Arg1006Ser)	SIN3A (R1006S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360656	NM_001145358.2(SIN3A):c.1366A>G (p.Ser456Gly)	SIN3A (S456G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360544	NM_001145358.2(SIN3A):c.113C>T (p.Pro38Leu)	SIN3A (P38L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

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Items: 95