ClinVar for Gene (Select 408050) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201181	NM_001004067.4(NOMO3):c.7G>C (p.Val3Leu)	NOMO3 (V3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201180	NM_001004067.4(NOMO3):c.464G>A (p.Gly155Glu)	NOMO3 (G155E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201179	NM_001004067.4(NOMO3):c.2329C>T (p.Pro777Ser)	NOMO3 (P777S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201178	NM_001004067.4(NOMO3):c.1772T>C (p.Met591Thr)	NOMO3 (M591T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201177	NM_001004067.4(NOMO3):c.1763C>T (p.Thr588Met)	NOMO3 (T588M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201176	NM_001004067.4(NOMO3):c.1661A>G (p.Lys554Arg)	NOMO3 (K554R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201174	NM_001004067.4(NOMO3):c.10G>C (p.Gly4Arg)	NOMO3 (G4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201173	NM_001004067.4(NOMO3):c.100G>A (p.Asp34Asn)	NOMO3 (D34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063442	GRCh37/hg19 16p13.11(chr16:14892713-16544419)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063441	GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063418	GRCh37/hg19 16p13.11(chr16:14892880-16494783)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063408	GRCh37/hg19 16p13.11(chr16:14906734-16516109)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3024599	GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1	ABCC1, ABCC6 +9 more	Copy number loss	not provided	GPathogenic
Select item 3024597	GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1	NPIPA5, ABCC1 +13 more	Copy number loss	not provided	GPathogenic
Select item 3024596	GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3	PDXDC1, RRN3 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	LOC102723692, LOC111365165 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685562	GRCh37/hg19 16p13.11(chr16:15481748-16391045)x1	ABCC1, ABCC6 +7 more	Copy number loss	not provided	GPathogenic
Select item 2685561	GRCh37/hg19 16p13.11(chr16:15450290-16458408)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 2685560	GRCh37/hg19 16p13.11(chr16:15358446-16494783)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 2684795	GRCh37/hg19 16p13.11-12.3(chr16:15509592-16873547)x3	ABCC1, ABCC6 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684794	GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684793	GRCh37/hg19 16p13.11(chr16:15507899-16388359)x3	ABCC1, ABCC6 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684791	GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3	ABCC1, ABCC6 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672673	GRCh37/hg19 16p13.11(chr16:15460510-16443142)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 2647150	GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 2646264	NM_001004067.4(NOMO3):c.306G>A (p.Pro102=)	NOMO3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580346	GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1	ABCC1, ABCC6 +8 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 2580341	GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1	ABCC1, ABCC6 +14 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 2580319	GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3	ABCC1, ABCC6 +11 more	Copy number gain	16p13.11 microduplication syndrome	GPathogenic
Select item 2570961	GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GLikely pathogenic
Select item 2531637	NM_001004067.4(NOMO3):c.2266T>C (p.Trp756Arg)	NOMO3 (W756R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525871	NM_001004067.4(NOMO3):c.15G>C (p.Gln5His)	NOMO3 (Q5H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507451	NM_001004067.4(NOMO3):c.1007T>C (p.Leu336Ser)	NOMO3 (L336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499651	GRCh38/hg38 16p13.11(chr16:14816348-16678513)	MIR3180-4, MIR6770-2 +54 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 2485135	NM_001004067.4(NOMO3):c.1070T>C (p.Val357Ala)	NOMO3 (V357A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481794	NM_001004067.4(NOMO3):c.1348C>T (p.His450Tyr)	NOMO3 (H450Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479320	NM_001004067.4(NOMO3):c.2294T>G (p.Val765Gly)	NOMO3 (V765G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479260	NM_001004067.4(NOMO3):c.1478T>C (p.Val493Ala)	NOMO3 (V493A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426738	NC_000016.9:g.(?_15758636)_(17564653_?)del	ABCC1, ABCC6 +5 more	Deletion	Desbuquois dysplasia 1	GPathogenic
Select item 2397465	NM_001004067.4(NOMO3):c.2216A>G (p.Gln739Arg)	NOMO3 (Q739R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393708	NM_001004067.4(NOMO3):c.1070T>A (p.Val357Asp)	NOMO3 (V357D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375390	NM_001004067.4(NOMO3):c.671G>A (p.Arg224Gln)	NOMO3 (R224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373593	NM_001004067.4(NOMO3):c.5T>G (p.Leu2Arg)	NOMO3 (L2R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369015	NM_001004067.4(NOMO3):c.1594C>T (p.Arg532Trp)	NOMO3 (R532W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357663	NM_001004067.4(NOMO3):c.47C>T (p.Thr16Ile)	NOMO3 (T16I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352626	NM_001004067.4(NOMO3):c.1049C>T (p.Thr350Ile)	NOMO3 (T350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344826	NM_001004067.4(NOMO3):c.1333G>A (p.Val445Met)	NOMO3 (V445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342209	NM_001004067.4(NOMO3):c.1580G>A (p.Arg527His)	NOMO3 (R527H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331827	NM_001004067.4(NOMO3):c.1135G>C (p.Ala379Pro)	NOMO3 (A379P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324746	NM_001004067.4(NOMO3):c.2348T>A (p.Val783Asp)	NOMO3 (V783D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227493	NM_001004067.4(NOMO3):c.1441C>T (p.Pro481Ser)	NOMO3 (P481S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220910	NM_001004067.4(NOMO3):c.1554G>C (p.Leu518Phe)	NOMO3 (L518F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215400	NM_001004067.4(NOMO3):c.1297C>A (p.Leu433Met)	NOMO3 (L433M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1879351	GRCh37/hg19 16p13.11(chr16:14927709-16484731)x3	ABCC1, ABCC6 +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808726	GRCh37/hg19 16p13.11(chr16:15509407-16527476)x3	ABCC1, ABCC6 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808705	GRCh37/hg19 16p13.11(chr16:15481921-16330672)x3	ABCC1, ABCC6 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808676	GRCh37/hg19 16p13.11(chr16:15509407-16330672)x3	ABCC1, ABCC6 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808623	GRCh37/hg19 16p13.12-13.11(chr16:14780544-16330627)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 1808599	GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3	ABCC1, ABCC6 +20 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808060	GRCh37/hg19 16p13.11(chr16:15481748-16330672)x1	ABCC1, ABCC6 +7 more	Copy number loss	not provided	GPathogenic
Select item 1807827	GRCh37/hg19 16p13.11(chr16:15476224-16330672)x1	ABCC1, ABCC6 +7 more	Copy number loss	not provided	GPathogenic
Select item 1807809	GRCh37/hg19 16p13.11(chr16:15449697-16391045)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1807744	GRCh37/hg19 16p13.11(chr16:15509407-16330477)x3	NDE1, NOMO3 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807737	GRCh37/hg19 16p13.11(chr16:15423704-16327961)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807725	GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711420	GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3	BMERB1, MARF1 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711419	GRCh37/hg19 16p13.11-12.3(chr16:15457516-17564653)x3	XYLT1, ABCC1 +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708186	GRCh37/hg19 16p13.11(chr16:15416716-16529801)x3	BMERB1, ABCC1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1707420	GRCh37/hg19 16p13.11-12.3(chr16:15416917-18770833)x3	ABCC1, ABCC6 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1703615	GRCh37/hg19 16p13.11(chr16:14892880-16533890)	ABCC1, ABCC6 +13 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 1703614	GRCh37/hg19 16p13.11(chr16:14892880-16544222)	ABCC1, ABCC6 +13 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 1703613	GRCh37/hg19 16p13.11(chr16:14897372-16513267)	ABCC1, ABCC6 +13 more	Copy number loss	Seizure	GPathogenic
Select item 1703612	GRCh37/hg19 16p13.11(chr16:14897625-16494783)	ABCC1, ABCC6 +13 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 1703611	GRCh37/hg19 16p13.11(chr16:14899676-16516109)	ABCC1, ABCC6 +13 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1703607	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18191725)	ABCC1, ABCC6 +9 more	Copy number gain	Cardiomyopathy	GLikely pathogenic
Select item 1703606	GRCh37/hg19 16p13.11(chr16:14927857-16537664)	ABCC1, ABCC6 +13 more	Copy number gain	Autism	GLikely pathogenic
Select item 1703604	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833)	ABCC1, ABCC6 +10 more	Copy number gain	Autism	GLikely pathogenic
Select item 1684553	GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3	ABCC1, ABCC6 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 1412329	NC_000016.9:g.(?_15758636)_(17564653_?)dup	ABCC1, ABCC6 +5 more	Duplication	not provided	GUncertain significance
Select item 1340834	GRCh37/hg19 16p13.11(chr16:15936927-16328840)x3	ABCC1, ABCC6 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1340567	GRCh37/hg19 16p13.11(chr16:15375912-16390970)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 1339967	GRCh37/hg19 16p13.11(chr16:15418575-16494783)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 997820	Single allele	ABCC1, ABCC6 +13 more	Deletion	Epilepsy	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980083	GRCh37/hg19 16p13.11-12.3(chr16:15481920-16837613)x3	ABCC1, ABCC6 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 980082	GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1	ABCC1, ABCC6 +9 more	Copy number loss	not provided	GPathogenic
Select item 980081	GRCh37/hg19 16p13.11-12.3(chr16:15481920-18164698)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 980080	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18164698)x3	MARF1, MPV17L +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 980079	GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 980078	GRCh37/hg19 16p13.11(chr16:15509824-16328781)x3	BMERB1, CEP20 +6 more	Copy number gain	not provided	GLikely pathogenic
Select item 980076	GRCh37/hg19 16p13.11(chr16:15058820-16328840)x3	ABCC1, ABCC6 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 980075	GRCh37/hg19 16p13.11(chr16:15127985-16527476)x3	ABCC1, ABCC6 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 980074	GRCh37/hg19 16p13.11(chr16:15417030-16544419)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 977331	NM_001004067.4(NOMO3):c.1873C>T (p.Arg625Ter)	NOMO3 (R625*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 973045	GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1	CEP20, ABCC6 +8 more	Copy number loss	16p13.11 microdeletion syndrome	Gnot provided
Select item 815806	GRCh37/hg19 16p13.11(chr16:16052972-16330627)x1	ABCC1, ABCC6 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815805	GRCh37/hg19 16p13.11(chr16:15481920-16516109)x3	ABCC1, ABCC6 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 815803	GRCh37/hg19 16p13.11-12.3(chr16:15416364-18231275)x1	ABCC1, ABCC6 +9 more	Copy number loss	not provided	GPathogenic

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