25942[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 58080	GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3	COMMD4, IMP3 +29 more	Copy number gain	See cases	GPathogenic
Select item 2764683	NM_001145358.2(SIN3A):c.3805G>A (p.Val1269Ile)	SIN3A (V1269I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988667	NM_001145358.2(SIN3A):c.3799G>A (p.Gly1267Ser)	SIN3A (G1267S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900796	NM_001145358.2(SIN3A):c.3794A>G (p.Lys1265Arg)	SIN3A (K1265R)	Single nucleotide variant (missense variant)	not provided	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 2789196	NM_001145358.2(SIN3A):c.3759C>G (p.Thr1253=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2159914	NM_001145358.2(SIN3A):c.3738C>T (p.Thr1246=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923053	NM_001145358.2(SIN3A):c.3735T>C (p.Cys1245=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1711388	NM_001145358.2(SIN3A):c.3733T>C (p.Cys1245Arg)	SIN3A (C1245R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172970	NM_001145358.2(SIN3A):c.3716T>C (p.Leu1239Pro)	SIN3A (L1239P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645556	NM_001145358.2(SIN3A):c.3702C>T (p.Leu1234=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104179	NM_001145358.2(SIN3A):c.3681A>G (p.Ala1227=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3318555	NM_001145358.2(SIN3A):c.3676A>G (p.Met1226Val)	SIN3A (M1226V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2153463	NM_001145358.2(SIN3A):c.3671G>A (p.Arg1224His)	SIN3A (R1224H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424586	NM_001145358.2(SIN3A):c.3670C>T (p.Arg1224Cys)	SIN3A (R1224C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 709281	NM_001145358.2(SIN3A):c.3669C>G (p.Pro1223=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2185011	NM_001145358.2(SIN3A):c.3643G>A (p.Asp1215Asn)	SIN3A (D1215N)	Single nucleotide variant (missense variant)	not provided	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 504080	NM_001145358.2(SIN3A):c.3640del (p.Trp1213_Val1214insTer)	SIN3A	Deletion (nonsense)	not provided	GUncertain significance
Select item 3162316	NM_001145358.2(SIN3A):c.3639G>C (p.Trp1213Cys)	SIN3A (W1213C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2175077	NM_001145358.2(SIN3A):c.3636C>T (p.Ala1212=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2077616	NM_001145358.2(SIN3A):c.3624G>C (p.Gln1208His)	SIN3A (Q1208H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 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 2896236	NM_001145358.2(SIN3A):c.3602G>A (p.Arg1201His)	SIN3A (R1201H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180145	NM_001145358.2(SIN3A):c.3592-11_3592-10del	SIN3A	Deletion (intron variant)	not provided	GLikely benign
Select item 723204	NM_001145358.2(SIN3A):c.3592-13_3592-10del	SIN3A	Deletion (intron variant)	not provided	GLikely benign
Select item 2780310	NM_001145358.2(SIN3A):c.3592-11C>G	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980277	NM_001145358.2(SIN3A):c.3592-12del	SIN3A	Deletion (intron variant)	not provided	GBenign
Select item 2969665	NM_001145358.2(SIN3A):c.3592-21_3592-19inv	SIN3A	Inversion (intron variant)	not provided	GUncertain significance
Select item 2079240	NM_001145358.2(SIN3A):c.3592-21_3592-20delinsAG	SIN3A	Indel (intron variant)	not provided	GUncertain significance
Select item 1627939	NM_001145358.2(SIN3A):c.3592-21_3592-20inv	SIN3A	Inversion (intron variant)	not provided	GLikely benign
Select item 1274358	NM_001145358.2(SIN3A):c.3592-20T>A	SIN3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1332968	NM_001145358.2(SIN3A):c.3592-21T>A	SIN3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1927579	NM_001145358.2(SIN3A):c.3591+16_3591+17del	SIN3A	Deletion (intron variant)	not provided	GLikely benign
Select item 2183487	NM_001145358.2(SIN3A):c.3591+4A>G	SIN3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3011284	NM_001145358.2(SIN3A):c.3591+3G>A	SIN3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2698252	NM_001145358.2(SIN3A):c.3590A>G (p.Gln1197Arg)	SIN3A (Q1197R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925992	NM_001145358.2(SIN3A):c.3570C>A (p.Thr1190=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1314367	NM_001145358.2(SIN3A):c.3561T>A (p.Tyr1187Ter)	SIN3A (Y1187*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1997018	NM_001145358.2(SIN3A):c.3559T>C (p.Tyr1187His)	SIN3A (Y1187H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715434	NM_001145358.2(SIN3A):c.3513G>A (p.Leu1171=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994159	NM_001145358.2(SIN3A):c.3510G>C (p.Lys1170Asn)	SIN3A (K1170N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992588	NM_001145358.2(SIN3A):c.3507C>T (p.Phe1169=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2101289	NM_001145358.2(SIN3A):c.3487G>T (p.Asp1163Tyr)	SIN3A (D1163Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719709	NM_001145358.2(SIN3A):c.3487G>A (p.Asp1163Asn)	SIN3A (D1163N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3162314	NM_001145358.2(SIN3A):c.3481_3482delinsT (p.Ser1161fs)	SIN3A (S1161fs)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3162315	NM_001145358.2(SIN3A):c.3481A>T (p.Ser1161Cys)	SIN3A (S1161C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3364332	NM_001145358.2(SIN3A):c.3464C>G (p.Thr1155Ser)	SIN3A (T1155S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645557	NM_001145358.2(SIN3A):c.3463A>G (p.Thr1155Ala)	SIN3A (T1155A)	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 3010930	NM_001145358.2(SIN3A):c.3454A>G (p.Ser1152Gly)	SIN3A (S1152G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2264819	NM_001145358.2(SIN3A):c.3453C>G (p.Asn1151Lys)	SIN3A (N1151K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298629	NM_001145358.2(SIN3A):c.3438A>G (p.Glu1146=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 1517640	NM_001145358.2(SIN3A):c.3426G>T (p.Gln1142His)	SIN3A (Q1142H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691552	NM_001145358.2(SIN3A):c.3425A>G (p.Gln1142Arg)	SIN3A (Q1142R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3046429	NM_001145358.2(SIN3A):c.3423G>A (p.Glu1141=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related disorder	GLikely benign
Select item 2957160	NM_001145358.2(SIN3A):c.3411A>G (p.Gln1137=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 872249	NM_001145358.2(SIN3A):c.3409C>T (p.Gln1137Ter)	SIN3A (Q1137*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3000114	NM_001145358.2(SIN3A):c.3408T>C (p.Cys1136=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043540	NM_001145358.2(SIN3A):c.3400C>A (p.Arg1134=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related disorder	GLikely benign
Select item 432491	NM_001145358.2(SIN3A):c.3400del (p.Arg1134fs)	SIN3A (R1134fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2799526	NM_001145358.2(SIN3A):c.3397A>G (p.Ile1133Val)	SIN3A (I1133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889401	NM_001145358.2(SIN3A):c.3395G>A (p.Arg1132Gln)	SIN3A (R1132Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991174	NM_001145358.2(SIN3A):c.3394C>T (p.Arg1132Trp)	SIN3A (R1132W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983574	NM_001145358.2(SIN3A):c.3391C>A (p.Arg1131=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778100	NM_001145358.2(SIN3A):c.3388C>T (p.Leu1130=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2057312	NM_001145358.2(SIN3A):c.3384-6C>T	SIN3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2969549	NM_001145358.2(SIN3A):c.3384-18G>A	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956792	NM_001145358.2(SIN3A):c.3384-19C>T	SIN3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1925218	NM_001145358.2(SIN3A):c.3383+17A>G	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088674	NM_001145358.2(SIN3A):c.3383+7G>A	SIN3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751448	NM_001145358.2(SIN3A):c.3383+6T>C	SIN3A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3046872	NM_001145358.2(SIN3A):c.3363G>A (p.Gln1121=)	SIN3A	Single nucleotide variant (synonymous variant)	SIN3A-related disorder	GLikely benign
Select item 1699067	NM_001145358.2(SIN3A):c.3359C>G (p.Ala1120Gly)	SIN3A (A1120G)	Single nucleotide variant (missense variant)	SIN3A-related intellectual disability syndrome	GUncertain significance
Select item 796306	NM_001145358.2(SIN3A):c.3357A>T (p.Leu1119=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498440	NM_001145358.2(SIN3A):c.3353A>G (p.His1118Arg)	SIN3A (H1118R)	Single nucleotide variant (missense variant)	not provided	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 3067684	NM_001145358.2(SIN3A):c.3336G>A (p.Ser1112=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734422	NM_001145358.2(SIN3A):c.3318G>C (p.Met1106Ile)	SIN3A (M1106I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2527586	NM_001145358.2(SIN3A):c.3314dup (p.Tyr1105Ter)	SIN3A (Y1105*)	Duplication (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2851706	NM_001145358.2(SIN3A):c.3311G>T (p.Arg1104Leu)	SIN3A (R1104L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2728195	NM_001145358.2(SIN3A):c.3304G>A (p.Val1102Met)	SIN3A (V1102M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015786	NM_001145358.2(SIN3A):c.3303C>T (p.Tyr1101=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206120	NM_001145358.2(SIN3A):c.3303C>G (p.Tyr1101Ter)	SIN3A (Y1101*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic

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