NOM1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 60314	GRCh38/hg38 7q36.1-36.3(chr7:152332476-159296617)x1	ACTR3B, BLACE +226 more	Copy number loss	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 147806	GRCh38/hg38 7q36.2-36.3(chr7:152807205-159325876)x1	EN2-DT, ESYT2 +207 more	Copy number loss	See cases	GPathogenic
Select item 146922	GRCh38/hg38 7q36.2-36.3(chr7:152860576-159325876)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 60315	GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1	BLACE, CNPY1 +204 more	Copy number loss	See cases	GPathogenic
Select item 60316	GRCh38/hg38 7q36.2-36.3(chr7:152920128-159332714)x1	BLACE, CNPY1 +205 more	Copy number loss	See cases	GPathogenic
Select item 146559	GRCh38/hg38 7q36.2-36.3(chr7:153908499-159325876)x1	BLACE, CNPY1 +195 more	Copy number loss	See cases	GPathogenic
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 147399	GRCh38/hg38 7q36.2-36.3(chr7:154939710-159325876)x1	BLACE, CNPY1 +186 more	Copy number loss	See cases	GPathogenic
Select item 57200	GRCh38/hg38 7q36.2-36.3(chr7:155007022-159135526)x1	BLACE, CNPY1 +173 more	Copy number loss	See cases	GPathogenic
Select item 154568	GRCh38/hg38 7q36.3(chr7:155262313-159117047)x1	BLACE, CNPY1 +161 more	Copy number loss	See cases	GPathogenic
Select item 149109	GRCh38/hg38 7q36.3(chr7:155379296-159335866)x3	CNPY1, DNAJB6 +156 more	Copy number gain	See cases	GLikely pathogenic
Select item 146358	GRCh38/hg38 7q36.3(chr7:155501171-159325876)x1	CNPY1, DNAJB6 +150 more	Copy number loss	See cases	GPathogenic
Select item 152725	GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1	DNAJB6, DYNC2I1 +148 more	Copy number loss	See cases	GPathogenic
Select item 2545719	NM_138400.2(NOM1):c.5C>T (p.Ala2Val)	LOC129999732, NOM1 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350822	NM_138400.2(NOM1):c.34C>T (p.Pro12Ser)	LOC129999732, NOM1 (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247029	NM_138400.2(NOM1):c.61C>A (p.Arg21Ser)	LOC129999732, NOM1 (R21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260621	NM_138400.2(NOM1):c.82C>A (p.Arg28Ser)	NOM1 (R28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201140	NM_138400.2(NOM1):c.94C>T (p.Arg32Cys)	NOM1 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472225	NM_138400.2(NOM1):c.151G>A (p.Glu51Lys)	NOM1 (E51K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293058	NM_138400.2(NOM1):c.164C>T (p.Ala55Val)	NOM1 (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201124	NM_138400.2(NOM1):c.195C>G (p.Cys65Trp)	NOM1 (C65W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201126	NM_138400.2(NOM1):c.205G>C (p.Gly69Arg)	NOM1 (G69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322596	NM_138400.2(NOM1):c.208G>A (p.Ala70Thr)	NOM1 (A70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300307	NM_138400.2(NOM1):c.230G>A (p.Gly77Glu)	NOM1 (G77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201128	NM_138400.2(NOM1):c.244C>T (p.Arg82Cys)	NOM1 (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300310	NM_138400.2(NOM1):c.245G>C (p.Arg82Pro)	NOM1 (R82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201131	NM_138400.2(NOM1):c.311C>G (p.Pro104Arg)	NOM1 (P104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201132	NM_138400.2(NOM1):c.329T>C (p.Leu110Pro)	NOM1 (L110P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201133	NM_138400.2(NOM1):c.352G>A (p.Glu118Lys)	LOC129999733, NOM1 (E118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313624	NM_138400.2(NOM1):c.373G>A (p.Asp125Asn)	LOC129999733, NOM1 (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512070	NM_138400.2(NOM1):c.377C>T (p.Thr126Met)	LOC129999733, NOM1 (T126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615000	NM_138400.2(NOM1):c.406C>G (p.Arg136Gly)	NOM1 (R136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201134	NM_138400.2(NOM1):c.437C>A (p.Pro146Gln)	NOM1 (P146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464087	NM_138400.2(NOM1):c.479C>A (p.Thr160Asn)	NOM1 (T160N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240512	NM_138400.2(NOM1):c.502G>A (p.Ala168Thr)	NOM1 (A168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398256	NM_138400.2(NOM1):c.508G>A (p.Ala170Thr)	NOM1 (A170T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242443	NM_138400.2(NOM1):c.535A>G (p.Asn179Asp)	NOM1 (N179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300305	NM_138400.2(NOM1):c.589A>C (p.Lys197Gln)	NOM1 (K197Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201136	NM_138400.2(NOM1):c.614G>T (p.Ser205Ile)	NOM1 (S205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407790	NM_138400.2(NOM1):c.617C>T (p.Ser206Phe)	NOM1 (S206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459123	NM_138400.2(NOM1):c.622C>T (p.Pro208Ser)	NOM1 (P208S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492320	NM_138400.2(NOM1):c.730C>A (p.Gln244Lys)	NOM1 (Q244K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201137	NM_138400.2(NOM1):c.736C>T (p.Leu246Phe)	NOM1 (L246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276978	NM_138400.2(NOM1):c.742G>A (p.Glu248Lys)	NOM1 (E248K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402960	NM_138400.2(NOM1):c.804A>T (p.Glu268Asp)	NOM1 (E268D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300303	NM_138400.2(NOM1):c.832G>T (p.Ala278Ser)	NOM1 (A278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372631	NM_138400.2(NOM1):c.853G>A (p.Glu285Lys)	NOM1 (E285K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257331	NM_138400.2(NOM1):c.907A>T (p.Arg303Trp)	NOM1 (R303W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201139	NM_138400.2(NOM1):c.920G>A (p.Arg307Lys)	NOM1 (R307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201141	NM_138400.2(NOM1):c.959C>T (p.Ser320Phe)	NOM1 (S320F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393299	NM_138400.2(NOM1):c.976A>G (p.Ile326Val)	NOM1 (I326V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300311	NM_138400.2(NOM1):c.994T>C (p.Cys332Arg)	NOM1 (C333R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201117	NM_138400.2(NOM1):c.1078A>G (p.Arg360Gly)	NOM1 (R360G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619673	NM_138400.2(NOM1):c.1142G>C (p.Ser381Thr)	NOM1 (S381T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201118	NM_138400.2(NOM1):c.1172A>G (p.His391Arg)	NOM1 (H392R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300304	NM_138400.2(NOM1):c.1183G>T (p.Asp395Tyr)	NOM1 (D395Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211826	NM_138400.2(NOM1):c.1225G>A (p.Val409Ile)	NOM1 (V410I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300308	NM_138400.2(NOM1):c.1348G>A (p.Asp450Asn)	NOM1 (D450N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463118	NM_138400.2(NOM1):c.1433T>C (p.Val478Ala)	NOM1 (V478A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232427	NM_138400.2(NOM1):c.1439C>T (p.Ser480Phe)	NOM1 (S481F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269209	NM_138400.2(NOM1):c.1507T>G (p.Leu503Val)	NOM1 (L504V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201119	NM_138400.2(NOM1):c.1547A>G (p.Asp516Gly)	NOM1 (D517G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411962	NM_138400.2(NOM1):c.1567G>C (p.Glu523Gln)	NOM1 (E523Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300314	NM_138400.2(NOM1):c.1612G>C (p.Glu538Gln)	NOM1 (E538Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278675	NM_138400.2(NOM1):c.1637G>A (p.Arg546Gln)	NOM1 (R547Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252758	NM_138400.2(NOM1):c.1689T>G (p.Ile563Met)	NOM1 (I564M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300315	NM_138400.2(NOM1):c.1711G>C (p.Val571Leu)	NOM1 (V572L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538432	NM_138400.2(NOM1):c.1748G>A (p.Arg583His)	NOM1 (R584H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608434	NM_138400.2(NOM1):c.1751A>G (p.Asn584Ser)	NOM1 (N585S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456115	NM_138400.2(NOM1):c.1756G>A (p.Gly586Ser)	NOM1 (G586S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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