49855[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 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 2396392	NM_020843.4(SCAPER):c.4200A>C (p.Lys1400Asn)	SCAPER (K1400N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610906	NM_020843.4(SCAPER):c.4184T>C (p.Leu1395Ser)	SCAPER (L1261S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3158293	NM_020843.4(SCAPER):c.4174C>A (p.Gln1392Lys)	SCAPER (Q1392K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258051	NM_020843.4(SCAPER):c.4099+2T>C	SCAPER	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 2613172	NM_020843.4(SCAPER):c.4084C>G (p.Pro1362Ala)	SCAPER (P1228A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377594	NM_020843.4(SCAPER):c.4059G>C (p.Gln1353His)	SCAPER (Q1353H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620276	NM_020843.4(SCAPER):c.4019G>C (p.Ser1340Thr)	SCAPER (S1206T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3354431	NM_020843.4(SCAPER):c.3986A>C (p.His1329Pro)	SCAPER (H1083P +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 3158292	NM_020843.4(SCAPER):c.3982A>C (p.Asn1328His)	SCAPER (N1082H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068119	NM_020843.4(SCAPER):c.3969del (p.Ala1324fs)	SCAPER (A1078fs +4 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GUncertain significance
Select item 796255	NM_020843.4(SCAPER):c.3966C>T (p.Ile1322=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3158291	NM_020843.4(SCAPER):c.3958T>C (p.Ser1320Pro)	SCAPER (S1074P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3357998	NM_020843.4(SCAPER):c.3926G>T (p.Ser1309Ile)	SCAPER (S1063I +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 791405	NM_020843.4(SCAPER):c.3882C>G (p.Pro1294=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3350304	NM_020843.4(SCAPER):c.3875G>A (p.Arg1292His)	SCAPER (R1046H +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 3358430	NM_020843.4(SCAPER):c.3874C>T (p.Arg1292Cys)	SCAPER (R1046C +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 3349666	NM_020843.4(SCAPER):c.3870C>T (p.Ser1290=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	SCAPER-related disorder	GLikely benign
Select item 2645580	NM_020843.4(SCAPER):c.3861C>T (p.Ile1287=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3350501	NM_020843.4(SCAPER):c.3844C>A (p.Pro1282Thr)	SCAPER (P1036T +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GLikely benign
Select item 2393589	NM_020843.4(SCAPER):c.3839A>G (p.Asn1280Ser)	SCAPER (N1152S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537555	NM_020843.4(SCAPER):c.3824G>C (p.Gly1275Ala)	SCAPER (G1275A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268550	NM_020843.4(SCAPER):c.3818G>A (p.Cys1273Tyr)	SCAPER (C1027Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 733361	NM_020843.4(SCAPER):c.3811A>G (p.Ile1271Val)	SCAPER (I1143V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 722664	NM_020843.4(SCAPER):c.3780A>G (p.Gln1260=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 800550	NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs)	SCAPER (S1108fs +4 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 1327980	NM_020843.4(SCAPER):c.3705+3A>G	SCAPER	Single nucleotide variant (intron variant)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more	GBenign
Select item 427855	NM_020843.4(SCAPER):c.3656G>A (p.Ser1219Asn)	SCAPER (S1219N +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +2 more	GPathogenic/Likely pathogenic
Select item 2284317	NM_020843.4(SCAPER):c.3650T>C (p.Ile1217Thr)	SCAPER (I971T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776933	NM_020843.4(SCAPER):c.3639C>A (p.Ile1213=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2481513	NM_020843.4(SCAPER):c.3637A>G (p.Ile1213Val)	SCAPER (I1219V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2250644	NM_020843.4(SCAPER):c.3632A>G (p.Asn1211Ser)	SCAPER (N1083S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 713377	NM_020843.4(SCAPER):c.3616G>A (p.Glu1206Lys)	SCAPER (E1072K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 778556	NM_020843.4(SCAPER):c.3597C>T (p.Pro1199=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3352640	NM_020843.4(SCAPER):c.3534C>T (p.Thr1178=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	SCAPER-related disorder	GLikely benign
Select item 2538784	NM_020843.4(SCAPER):c.3532A>G (p.Thr1178Ala)	SCAPER (T1184A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 789223	NM_020843.4(SCAPER):c.3496C>G (p.Gln1166Glu)	SCAPER (Q1166E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3346878	NM_020843.4(SCAPER):c.3476G>A (p.Ser1159Asn)	SCAPER (S1025N +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 2399837	NM_020843.4(SCAPER):c.3468G>A (p.Arg1156=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 3347898	NM_020843.4(SCAPER):c.3445C>T (p.Leu1149=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	SCAPER-related disorder	GLikely benign
Select item 3250135	NM_020843.4(SCAPER):c.3443C>T (p.Thr1148Ile)	SCAPER (T1014I +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 2400307	NM_020843.4(SCAPER):c.3431A>G (p.His1144Arg)	SCAPER (H1010R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 776934	NM_020843.4(SCAPER):c.3418G>A (p.Ala1140Thr)	SCAPER (A894T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3354930	NM_020843.4(SCAPER):c.3341A>C (p.Lys1114Thr)	SCAPER (K1114T +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GLikely benign
Select item 3353062	NM_020843.4(SCAPER):c.3327G>A (p.Met1109Ile)	SCAPER (M1109I +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 1314904	NM_020843.4(SCAPER):c.3316G>A (p.Val1106Met)	SCAPER (V1106M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 753501	NM_020843.4(SCAPER):c.3312-4C>G	SCAPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791102	NM_020843.4(SCAPER):c.3312-7T>C	SCAPER	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801462	NM_020843.4(SCAPER):c.3311+2919_3311+2920insTTTACACTTTTACTAAATTTTAATTTAAAATTTAGTAAATTAAAATAAAATTTTACTATTTTTAATTAGGCTTGTTTTACACTTGGGTTTTTT	SCAPER	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 2645581	NM_020843.4(SCAPER):c.3311G>A (p.Ser1104Asn)	LOC126862183, SCAPER (S1104N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502904	NM_020843.4(SCAPER):c.3293G>A (p.Arg1098Gln)	LOC126862183, SCAPER (R1098Q +4 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 1	GUncertain significance
Select item 791406	NM_020843.4(SCAPER):c.3290A>G (p.Asn1097Ser)	LOC126862183, SCAPER (N969S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3358420	NM_020843.4(SCAPER):c.3274G>A (p.Gly1092Ser)	LOC126862183, SCAPER (G1092S +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 2633825	NM_020843.4(SCAPER):c.3267dup (p.Ser1090fs)	LOC126862183, SCAPER (S1090fs +4 more)	Duplication (frameshift variant +1 more)	SCAPER-related disorder	GLikely pathogenic
Select item 1327981	NM_020843.4(SCAPER):c.3265C>A (p.Pro1089Thr)	LOC126862183, SCAPER (P1089T +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +1 more	GBenign
Select item 2475469	NM_020843.4(SCAPER):c.3242C>T (p.Pro1081Leu)	LOC126862183, SCAPER (P953L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 800548	NM_020843.4(SCAPER):c.3224del (p.Pro1075fs)	LOC126862183, SCAPER (P829fs +4 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 2241366	NM_020843.4(SCAPER):c.3203G>A (p.Arg1068Gln)	LOC126862183, SCAPER (R1068Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3044749	NM_020843.4(SCAPER):c.3200A>G (p.Asn1067Ser)	LOC126862183, SCAPER (N1067S +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GLikely benign
Select item 3354088	NM_020843.4(SCAPER):c.3178G>A (p.Val1060Ile)	LOC126862183, SCAPER (V1060I +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 3350821	NM_020843.4(SCAPER):c.3170G>A (p.Ser1057Asn)	LOC126862183, SCAPER (S1057N +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 3354726	NM_020843.4(SCAPER):c.3143G>T (p.Gly1048Val)	LOC126862183, SCAPER (G1048V +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 2595022	NM_020843.4(SCAPER):c.3113G>A (p.Gly1038Glu)	LOC126862183, SCAPER (G792E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 756322	NM_020843.4(SCAPER):c.3109T>C (p.Leu1037=)	LOC126862183, SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645582	NM_020843.4(SCAPER):c.3079-8T>C	LOC126862183, SCAPER	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327982	NM_020843.4(SCAPER):c.3078+39G>T	SCAPER	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2275804	NM_020843.4(SCAPER):c.3077C>T (p.Thr1026Met)	SCAPER (T892M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1184367	NM_020843.4(SCAPER):c.3065T>C (p.Ile1022Thr)	SCAPER (I1022T +4 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GUncertain significance
Select item 3346647	NM_020843.4(SCAPER):c.3063G>A (p.Leu1021=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	SCAPER-related disorder	GLikely benign
Select item 3158290	NM_020843.4(SCAPER):c.3022G>A (p.Val1008Ile)	SCAPER (V762I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3355476	NM_020843.4(SCAPER):c.2996A>G (p.Asn999Ser)	SCAPER (N1005S +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 417685	NM_020843.3(SCAPER):c.2973_2976del (p.Ile991Metfs)	SCAPER (I745fs +4 more)	Microsatellite (frameshift variant +1 more)	Attention deficit hyperactivity disorder +2 more	GPathogenic
Select item 2217287	NM_020843.4(SCAPER):c.2975A>G (p.Asn992Ser)	SCAPER (N992S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645583	NM_020843.4(SCAPER):c.2973C>A (p.Ile991=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3158289	NM_020843.4(SCAPER):c.2966A>G (p.Asn989Ser)	SCAPER (N855S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1325035	NM_020843.4(SCAPER):c.2961_2962del (p.Cys988fs)	SCAPER (C742fs +4 more)	Microsatellite (frameshift variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 1325036	NM_020843.4(SCAPER):c.2955-1G>T	SCAPER	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 3158288	NM_020843.4(SCAPER):c.2944A>G (p.Ile982Val)	SCAPER (I736V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2342474	NM_020843.4(SCAPER):c.2908G>A (p.Val970Ile)	SCAPER (V724I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3344358	NM_020843.4(SCAPER):c.2846C>T (p.Ala949Val)	SCAPER (A703V +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 3354579	NM_020843.4(SCAPER):c.2839-10T>G	SCAPER	Single nucleotide variant (intron variant)	SCAPER-related disorder	GLikely benign
Select item 548448	NM_020843.4(SCAPER):c.2806del (p.Thr935_Leu936insTer)	SCAPER	Deletion (nonsense +1 more)	Obesity +5 more	GPathogenic
Select item 799774	NM_020843.4(SCAPER):c.2787G>A (p.Val929=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645584	NM_020843.4(SCAPER):c.2775A>G (p.Ala925=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3040081	NM_020843.4(SCAPER):c.2712-7A>G	SCAPER	Single nucleotide variant (intron variant)	SCAPER-related disorder	GLikely benign
Select item 782340	NM_020843.4(SCAPER):c.2657A>T (p.Tyr886Phe)	SCAPER (Y758F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 829945	NM_020843.4(SCAPER):c.2653del (p.Glu885fs)	SCAPER (E757fs +4 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP	GLikely pathogenic
Select item 1327983	NM_020843.4(SCAPER):c.2645+36T>C	SCAPER	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3045476	NM_020843.4(SCAPER):c.2622G>A (p.Lys874=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	SCAPER-related disorder	GLikely benign
Select item 3357305	NM_020843.4(SCAPER):c.2593C>G (p.Arg865Gly)	SCAPER (R619G +4 more)	Single nucleotide variant (missense variant +1 more)	SCAPER-related disorder	GUncertain significance
Select item 3158287	NM_020843.4(SCAPER):c.2593C>T (p.Arg865Trp)	SCAPER (R871W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3316391	NM_020843.4(SCAPER):c.2582A>T (p.Asp861Val)	SCAPER (D615V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3158286	NM_020843.4(SCAPER):c.2558C>G (p.Thr853Arg)	SCAPER (T859R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485056	NM_020843.4(SCAPER):c.2518T>C (p.Ser840Pro)	SCAPER (S846P +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645585	NM_020843.4(SCAPER):c.2511G>A (p.Glu837=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3041971	NM_020843.4(SCAPER):c.2496A>G (p.Ser832=)	SCAPER	Single nucleotide variant (synonymous variant +1 more)	SCAPER-related disorder	GBenign

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