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	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +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	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	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 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 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 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	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 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 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 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 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 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	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	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 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 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 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 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 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 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 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 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 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 154911	GRCh38/hg38 9q34.3(chr9:136877772-138124524)x1	ABCA2, ANAPC2 +176 more	Copy number loss	See cases	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 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 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 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 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 2370636	NM_014434.4(NDOR1):c.11C>T (p.Pro4Leu)	NDOR1 (P4L)	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 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 3298973	NM_014434.4(NDOR1):c.54G>C (p.Gln18His)	NDOR1 (Q18H)	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 3298979	NM_014434.4(NDOR1):c.155C>T (p.Pro52Leu)	NDOR1 (P52L)	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 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 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 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 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 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 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 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

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