NDOR1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	LOC130002885, LOC130002886 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	ABCA2, ABL1 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC110121282, LOC111365185 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	BRD3, BRD3OS +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	ABCA2, ADAMTSL2 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	LOC130002964, LOC130002965 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	ABCA2, AGPAT2 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	LOC130003068, LOC130003069 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	ABCA2, AGPAT2 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LCN15, LCN6 +265 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	LOC130003113, LOC130003114 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 154677	GRCh38/hg38 9q34.3(chr9:137092629-137270028)x3	ANAPC2, CIMIP2A +43 more	Copy number gain	See cases	GBenign
Select item 59090	GRCh38/hg38 9q34.3(chr9:137092629-137375788)x1	ANAPC2, CIMIP2A +60 more	Copy number loss	See cases	GUncertain significance
Select item 2370636	NM_014434.4(NDOR1):c.11C>T (p.Pro4Leu)	NDOR1 (P4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464308	NM_014434.4(NDOR1):c.23T>C (p.Val8Ala)	NDOR1 (V8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383175	NM_014434.4(NDOR1):c.46A>G (p.Thr16Ala)	NDOR1 (T16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186111	NM_014434.4(NDOR1):c.65A>G (p.Glu22Gly)	NDOR1 (E22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213723	NM_014434.4(NDOR1):c.73G>A (p.Gly25Ser)	NDOR1 (G25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483090	NM_014434.4(NDOR1):c.130C>T (p.Pro44Ser)	NDOR1 (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516388	NM_014434.4(NDOR1):c.235C>T (p.Arg79Trp)	NDOR1 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244389	NM_014434.4(NDOR1):c.247C>T (p.Pro83Ser)	NDOR1 (P83S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186083	NM_014434.4(NDOR1):c.257C>T (p.Ala86Val)	NDOR1 (A86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386824	NM_014434.4(NDOR1):c.298T>G (p.Ser100Ala)	NDOR1 (S100A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386825	NM_014434.4(NDOR1):c.299C>A (p.Ser100Tyr)	NDOR1 (S100Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186091	NM_014434.4(NDOR1):c.322G>A (p.Val108Met)	NDOR1 (V108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477939	NM_014434.4(NDOR1):c.377C>T (p.Pro126Leu)	NDOR1 (P126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517490	NM_014434.4(NDOR1):c.422C>T (p.Ala141Val)	NDOR1 (A141V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354441	NM_014434.4(NDOR1):c.440G>C (p.Arg147Pro)	NDOR1 (R147P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484492	NM_014434.4(NDOR1):c.515T>C (p.Leu172Pro)	NDOR1 (L138P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186102	NM_014434.4(NDOR1):c.571G>A (p.Gly191Arg)	NDOR1 (G157R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283216	NM_014434.4(NDOR1):c.648C>G (p.Asn216Lys)	NDOR1 (N182K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234602	NM_014434.4(NDOR1):c.651G>T (p.Gln217His)	NDOR1 (Q183H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186114	NM_014434.4(NDOR1):c.661G>A (p.Gly221Ser)	NDOR1 (G221S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603387	NM_014434.4(NDOR1):c.675C>A (p.Phe225Leu)	NDOR1 (F191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384148	NM_014434.4(NDOR1):c.682G>A (p.Val228Ile)	NDOR1 (V194I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368523	NM_014434.4(NDOR1):c.731C>T (p.Ala244Val)	NDOR1 (A210V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514297	NM_014434.4(NDOR1):c.782G>A (p.Arg261Gln)	NDOR1 (R227Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550412	NM_014434.4(NDOR1):c.814C>G (p.Gln272Glu)	NDOR1 (Q272E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276971	NM_014434.4(NDOR1):c.833C>T (p.Pro278Leu)	NDOR1 (P244L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186145	NM_014434.4(NDOR1):c.835C>T (p.Arg279Trp)	NDOR1 (R245W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491057	NM_014434.4(NDOR1):c.848T>A (p.Val283Asp)	NDOR1 (V249D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296713	NM_014434.4(NDOR1):c.886C>T (p.Arg296Trp)	NDOR1 (R262W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186154	NM_014434.4(NDOR1):c.901C>T (p.His301Tyr)	NDOR1 (H301Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186157	NM_014434.4(NDOR1):c.902A>G (p.His301Arg)	NDOR1 (H267R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264077	NM_014434.4(NDOR1):c.929G>A (p.Arg310His)	NDOR1 (R276H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593445	NM_014434.4(NDOR1):c.931C>T (p.Arg311Cys)	NDOR1 (R277C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186165	NM_014434.4(NDOR1):c.979C>T (p.Arg327Trp)	NDOR1 (R293W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384751	NM_014434.4(NDOR1):c.1108G>A (p.Asp370Asn)	NDOR1 (D336N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265617	NM_014434.4(NDOR1):c.1138C>T (p.Arg380Trp)	NDOR1 (R346W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371025	NM_014434.4(NDOR1):c.1139G>A (p.Arg380Gln)	NDOR1 (R380Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186019	NM_014434.4(NDOR1):c.1225C>T (p.Arg409Cys)	NDOR1 (R402C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514609	NM_014434.4(NDOR1):c.1226G>A (p.Arg409His)	NDOR1 (R402H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589630	NM_014434.4(NDOR1):c.1243C>T (p.Arg415Trp)	NDOR1 (R381W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280682	NM_014434.4(NDOR1):c.1259C>T (p.Ser420Phe)	NDOR1 (S386F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186029	NM_014434.4(NDOR1):c.1291C>T (p.Pro431Ser)	NDOR1 (P397S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396036	NM_014434.4(NDOR1):c.1316G>A (p.Arg439Gln)	NDOR1 (R439Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59151	GRCh38/hg38 9q34.3(chr9:137215877-137830604)x1	ARRDC1, ARRDC1-AS1 +92 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 2558619	NM_014434.4(NDOR1):c.1457G>C (p.Cys486Ser)	NDOR1 (C452S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204467	NM_014434.4(NDOR1):c.1459C>T (p.Arg487Cys)	NDOR1 (R453C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186044	NM_014434.4(NDOR1):c.1489G>A (p.Ala497Thr)	NDOR1 (A497T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215955	NM_014434.4(NDOR1):c.1513C>T (p.Arg505Trp)	NDOR1 (R498W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354778	NM_014434.4(NDOR1):c.1514G>A (p.Arg505Gln)	NDOR1 (R471Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352808	NM_014434.4(NDOR1):c.1516G>T (p.Asp506Tyr)	NDOR1 (D472Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225870	NM_014434.4(NDOR1):c.1622G>A (p.Arg541His)	NDOR1 (R534H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244587	NM_014434.4(NDOR1):c.1627G>C (p.Gly543Arg)	NDOR1 (G536R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186063	NM_014434.4(NDOR1):c.1658A>C (p.Lys553Thr)	NDOR1 (K546T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385005	NM_014434.4(NDOR1):c.1675G>A (p.Val559Ile)	NDOR1 (V559I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588033	NM_014434.4(NDOR1):c.1727C>T (p.Pro576Leu)	NDOR1 (P585L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2576632	GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3	ANAPC2, ARRDC1 +28 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576631	GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	ANAPC2, ARRDC1 +31 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576628	GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	ANAPC2, ARRDC1 +33 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425752	NC_000009.11:g.(?_140036445)_(140138008_?)dup	ANAPC2, CYSRT1 +11 more	Duplication	Intellectual disability, autosomal dominant 8	GUncertain significance
Select item 2425750	NC_000009.11:g.(?_140040158)_(141016451_?)del	NSMF, PNPLA7 +28 more	Deletion	Kleefstra syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 1527567	GRCh37/hg19 9q34.3(chr9:139563039-140310033)	ABCA2, AGPAT2 +50 more	Copy number loss	not specified	GUncertain significance

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