ClinVar for Gene (Select 27158) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298979	NM_014434.4(NDOR1):c.155C>T (p.Pro52Leu)	NDOR1 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298978	NM_014434.4(NDOR1):c.716G>A (p.Gly239Asp)	NDOR1 (G239D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298977	NM_014434.4(NDOR1):c.1132G>C (p.Val378Leu)	NDOR1 (V378L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298976	NM_014434.4(NDOR1):c.866T>G (p.Leu289Arg)	NDOR1 (L255R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298975	NM_014434.4(NDOR1):c.865C>G (p.Leu289Val)	NDOR1 (L289V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298974	NM_014434.4(NDOR1):c.1552C>G (p.Gln518Glu)	NDOR1 (Q518E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298973	NM_014434.4(NDOR1):c.54G>C (p.Gln18His)	NDOR1 (Q18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298972	NM_014434.4(NDOR1):c.637A>G (p.Met213Val)	NDOR1 (M179V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298971	NM_014434.4(NDOR1):c.17T>C (p.Leu6Pro)	NDOR1 (L6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298970	NM_014434.4(NDOR1):c.1255T>C (p.Ser419Pro)	NDOR1 (S385P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298969	NM_014434.4(NDOR1):c.1757A>G (p.Gln586Arg)	NDOR1 (Q579R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298968	NM_014434.4(NDOR1):c.1472A>G (p.Gln491Arg)	NDOR1 (Q484R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238717	GRCh38/hg38 9q34.3(chr9:137170000-138360000)	ANAPC2, ARRDC1 +114 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238695	GRCh38/hg38 9q34.3(chr9:137059436-137902321)	ANAPC2, ARRDC1 +136 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238682	GRCh38/hg38 9q34.3(chr9:137569711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
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 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 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 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 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 3186111	NM_014434.4(NDOR1):c.65A>G (p.Glu22Gly)	NDOR1 (E22G)	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 3186091	NM_014434.4(NDOR1):c.322G>A (p.Val108Met)	NDOR1 (V108M)	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 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 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 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 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 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +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 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 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 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 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 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 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 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 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 2516388	NM_014434.4(NDOR1):c.235C>T (p.Arg79Trp)	NDOR1 (R79W)	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 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 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 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 2483090	NM_014434.4(NDOR1):c.130C>T (p.Pro44Ser)	NDOR1 (P44S)	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 2464308	NM_014434.4(NDOR1):c.23T>C (p.Val8Ala)	NDOR1 (V8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +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	DPH7, MRPL41 +28 more	Deletion	Intellectual disability, autosomal dominant 8 +1 more	GConflicting classifications of pathogenicity
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
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 2386825	NM_014434.4(NDOR1):c.299C>A (p.Ser100Tyr)	NDOR1 (S100Y)	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 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 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 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 2383175	NM_014434.4(NDOR1):c.46A>G (p.Thr16Ala)	NDOR1 (T16A)	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 2370636	NM_014434.4(NDOR1):c.11C>T (p.Pro4Leu)	NDOR1 (P4L)	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 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 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 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 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 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 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 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 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 2264077	NM_014434.4(NDOR1):c.929G>A (p.Arg310His)	NDOR1 (R276H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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