23310[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	LOC130007100, LOC130007101 +145 more	Copy number loss	See cases	GPathogenic
Select item 58950	GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1	ACAD8, ADAMTS15 +123 more	Copy number loss	See cases	GPathogenic
Select item 154559	GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1	ACAD8, B3GAT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 148509	GRCh38/hg38 11q25(chr11:131212028-135075271)x1	ACAD8, B3GAT1 +88 more	Copy number loss	See cases	GPathogenic
Select item 58951	GRCh38/hg38 11q25(chr11:131587470-134609295)x1	ACAD8, B3GAT1 +75 more	Copy number loss	See cases	GPathogenic
Select item 155588	GRCh38/hg38 11q25(chr11:132588975-135068576)x1	ACAD8, B3GAT1 +65 more	Copy number loss	See cases	GUncertain significance
Select item 144517	GRCh38/hg38 11q25(chr11:132936725-134998513)x1	LOC130007119, LOC130007120 +62 more	Copy number loss	See cases	GPathogenic
Select item 155223	GRCh38/hg38 11q25(chr11:133169303-135068576)x1	ACAD8, B3GAT1 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 3354212	NM_015261.3(NCAPD3):c.*8C>T	NCAPD3	Single nucleotide variant (3 prime UTR variant +1 more)	NCAPD3-related disorder	GLikely benign
Select item 3058631	NM_015261.3(NCAPD3):c.4497A>G (p.Ter1499=)	NCAPD3	Single nucleotide variant (synonymous variant +1 more)	NCAPD3-related disorder	GLikely benign
Select item 1684943	NM_015261.3(NCAPD3):c.4483A>T (p.Lys1495Ter)	NCAPD3 (K1357* +2 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3052363	NM_015261.3(NCAPD3):c.4469G>A (p.Arg1490Gln)	NCAPD3 (R1352Q +2 more)	Single nucleotide variant (missense variant +1 more)	NCAPD3-related disorder	GBenign
Select item 2322756	NM_015261.3(NCAPD3):c.4435A>G (p.Lys1479Glu)	NCAPD3 (K1341E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407676	NM_015261.3(NCAPD3):c.4430G>C (p.Arg1477Thr)	NCAPD3 (R1477T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280949	NM_015261.3(NCAPD3):c.4426G>A (p.Ala1476Thr)	NCAPD3 (A1338T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525438	NM_015261.3(NCAPD3):c.4418G>T (p.Arg1473Leu)	NCAPD3 (R1335L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064698	NM_015261.3(NCAPD3):c.4388+1G>A	NCAPD3	Single nucleotide variant (splice donor variant +1 more)	Microcephaly 22, primary, autosomal recessive	GLikely pathogenic
Select item 3181193	NM_015261.3(NCAPD3):c.4355A>G (p.Asn1452Ser)	NCAPD3 (N1314S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2691393	NM_015261.3(NCAPD3):c.4351G>A (p.Gly1451Arg)	NCAPD3 (G1313R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3403201	NM_015261.3(NCAPD3):c.4343G>A (p.Arg1448Gln)	NCAPD3 (R1448Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2295974	NM_015261.3(NCAPD3):c.4332A>C (p.Lys1444Asn)	NCAPD3 (K1306N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3040633	NM_015261.3(NCAPD3):c.4327+8C>A	NCAPD3	Single nucleotide variant (intron variant)	NCAPD3-related disorder	GLikely benign
Select item 2377289	NM_015261.3(NCAPD3):c.4306C>T (p.Arg1436Trp)	NCAPD3 (R1298W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181181	NM_015261.3(NCAPD3):c.4294A>G (p.Ile1432Val)	NCAPD3 (I1294V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040956	NM_015261.3(NCAPD3):c.4253-7T>C	NCAPD3	Single nucleotide variant (intron variant)	NCAPD3-related disorder	GLikely benign
Select item 3043813	NM_015261.3(NCAPD3):c.4248C>G (p.Pro1416=)	NCAPD3	Single nucleotide variant (synonymous variant)	NCAPD3-related disorder	GLikely benign
Select item 2386165	NM_015261.3(NCAPD3):c.4237A>G (p.Ile1413Val)	NCAPD3 (I1275V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181175	NM_015261.3(NCAPD3):c.4222G>A (p.Val1408Met)	NCAPD3 (V1408M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777871	NM_015261.3(NCAPD3):c.4221C>A (p.His1407Gln)	NCAPD3 (H1407Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2523683	NM_015261.3(NCAPD3):c.4210G>A (p.Glu1404Lys)	NCAPD3 (E1404K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776682	NM_015261.3(NCAPD3):c.4163C>T (p.Thr1388Met)	NCAPD3 (T1250M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1176596	NM_015261.3(NCAPD3):c.4129C>T (p.Pro1377Ser)	NCAPD3 (P1239S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036445	NM_015261.3(NCAPD3):c.4112G>A (p.Arg1371Gln)	NCAPD3 (R1233Q +1 more)	Single nucleotide variant (missense variant)	NCAPD3-related disorder	GLikely benign
Select item 2372783	NM_015261.3(NCAPD3):c.4110T>A (p.Ser1370Arg)	NCAPD3 (S1370R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181164	NM_015261.3(NCAPD3):c.4084G>A (p.Val1362Met)	NCAPD3 (V1224M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038683	NM_015261.3(NCAPD3):c.4083C>T (p.Ala1361=)	NCAPD3	Single nucleotide variant (synonymous variant)	NCAPD3-related disorder	GBenign
Select item 714502	NM_015261.3(NCAPD3):c.4075A>C (p.Lys1359Gln)	NCAPD3 (K1221Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2355357	NM_015261.3(NCAPD3):c.4046T>C (p.Leu1349Pro)	NCAPD3 (L1211P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383873	NM_015261.3(NCAPD3):c.4031C>T (p.Ala1344Val)	NCAPD3 (A1344V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3362842	NM_015261.3(NCAPD3):c.4028A>C (p.Lys1343Thr)	NCAPD3 (K1205T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 22, primary, autosomal recessive	GUncertain significance
Select item 3298704	NM_015261.3(NCAPD3):c.3991A>C (p.Thr1331Pro)	NCAPD3 (T1193P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403220	NM_015261.3(NCAPD3):c.3973G>A (p.Val1325Ile)	NCAPD3 (V1325I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717006	NM_015261.3(NCAPD3):c.3934G>A (p.Val1312Met)	NCAPD3 (V1312M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2349888	NM_015261.3(NCAPD3):c.3916C>G (p.Pro1306Ala)	NCAPD3 (P1168A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781055	NM_015261.3(NCAPD3):c.3893C>T (p.Pro1298Leu)	NCAPD3 (P1160L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2691392	NM_015261.3(NCAPD3):c.3867+5G>A	NCAPD3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3403209	NM_015261.3(NCAPD3):c.3854C>A (p.Ala1285Glu)	NCAPD3 (A1147E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775303	NM_015261.3(NCAPD3):c.3837T>C (p.Ala1279=)	NCAPD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3181155	NM_015261.3(NCAPD3):c.3833C>T (p.Thr1278Met)	NCAPD3 (T1140M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403210	NM_015261.3(NCAPD3):c.3699T>G (p.Asp1233Glu)	NCAPD3 (D1233E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403212	NM_015261.3(NCAPD3):c.3679C>G (p.Leu1227Val)	NCAPD3 (L1089V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403221	NM_015261.3(NCAPD3):c.3671T>G (p.Met1224Arg)	NCAPD3 (M1086R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298705	NM_015261.3(NCAPD3):c.3667C>T (p.Leu1223Phe)	NCAPD3 (L1085F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 546691	NM_015261.3(NCAPD3):c.3664G>A (p.Glu1222Lys)	NCAPD3 (E1222K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2388764	NM_015261.3(NCAPD3):c.3631G>T (p.Val1211Leu)	NCAPD3 (V1073L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049563	NM_015261.3(NCAPD3):c.3621C>T (p.Ser1207=)	NCAPD3	Single nucleotide variant (synonymous variant)	NCAPD3-related disorder	GLikely benign
Select item 3181150	NM_015261.3(NCAPD3):c.3610A>G (p.Ile1204Val)	NCAPD3 (I1066V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3403215	NM_015261.3(NCAPD3):c.3577C>G (p.Gln1193Glu)	NCAPD3 (Q1055E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049877	NM_015261.3(NCAPD3):c.3573+3G>A	NCAPD3	Single nucleotide variant (intron variant)	NCAPD3-related disorder	GLikely benign
Select item 3403207	NM_015261.3(NCAPD3):c.3571C>A (p.Gln1191Lys)	NCAPD3 (Q1191K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734324	NM_015261.3(NCAPD3):c.3546G>A (p.Gln1182=)	NCAPD3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3403214	NM_015261.3(NCAPD3):c.3530C>G (p.Ala1177Gly)	NCAPD3 (A1039G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375406	NM_015261.3(NCAPD3):c.3530C>T (p.Ala1177Val)	NCAPD3 (A1177V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181145	NM_015261.3(NCAPD3):c.3524C>T (p.Ala1175Val)	NCAPD3 (A1175V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547531	NM_015261.3(NCAPD3):c.3520A>G (p.Met1174Val)	NCAPD3 (M1036V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 975755	NM_015261.3(NCAPD3):c.3510AGA[1] (p.Glu1171del)	NCAPD3 (E1033del +1 more)	Microsatellite (inframe_deletion)	Intellectual disability	GLikely benign
Select item 2219184	NM_015261.3(NCAPD3):c.3513A>T (p.Glu1171Asp)	NCAPD3 (E1171D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181141	NM_015261.3(NCAPD3):c.3511G>A (p.Glu1171Lys)	NCAPD3 (E1033K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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