8045[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 2292880	NM_022078.3(GPATCH3):c.205A>G (p.Thr69Ala)	GPATCH3, NUDC (T69A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220830	NM_022078.3(GPATCH3):c.177G>T (p.Gln59His)	GPATCH3, NUDC (Q59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282079	NM_022078.3(GPATCH3):c.106T>C (p.Phe36Leu)	GPATCH3, NUDC (F36L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217802	NM_022078.3(GPATCH3):c.104A>G (p.Gln35Arg)	GPATCH3, NUDC (Q35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622508	NM_022078.3(GPATCH3):c.79G>T (p.Ala27Ser)	GPATCH3, NUDC (A27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365252	NM_022078.3(GPATCH3):c.62C>A (p.Pro21His)	GPATCH3, NUDC (P21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324529	NM_022078.3(GPATCH3):c.25G>C (p.Glu9Gln)	GPATCH3, LOC129929851 +1 more (E9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049455	NC_000001.11:g.26900659A>G	GPATCH3, NUDC	Single nucleotide variant	GPATCH3-related disorder	GLikely benign
Select item 2636451	NM_021969.3(NR0B2):c.769A>G (p.Arg257Gly)	NR0B2, NUDC (R257G)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2104287	NM_021969.3(NR0B2):c.754del (p.Asp252fs)	NR0B2, NUDC (D252fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2314571	NM_021969.3(NR0B2):c.751G>A (p.Gly251Arg)	NR0B2, NUDC (G251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2665087	NM_021969.3(NR0B2):c.749T>C (p.Leu250Pro)	NR0B2, NUDC (L250P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629490	NM_021969.3(NR0B2):c.739G>A (p.Ala247Thr)	NR0B2, NUDC (A247T)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2628944	NM_021969.3(NR0B2):c.734A>G (p.Asp245Gly)	NR0B2, NUDC (D245G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3355003	NM_021969.3(NR0B2):c.730G>C (p.Val244Leu)	NR0B2, NUDC (V244L)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2634685	NM_021969.3(NR0B2):c.718A>G (p.Ile240Val)	NR0B2, NUDC (I240V)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3354523	NM_021969.3(NR0B2):c.716C>T (p.Pro239Leu)	NR0B2, NUDC (P239L)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 1339332	NM_021969.3(NR0B2):c.712C>T (p.Arg238Cys)	NUDC, NR0B2 (R238C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3344975	NM_021969.3(NR0B2):c.692T>C (p.Leu231Pro)	NR0B2, NUDC (L231P)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2883020	NM_021969.3(NR0B2):c.672C>T (p.Leu224=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192638	NM_021969.3(NR0B2):c.659C>T (p.Thr220Met)	NR0B2, NUDC (T220M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2632928	NM_021969.3(NR0B2):c.647G>A (p.Arg216His)	NR0B2, NUDC (R216H)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3358479	NM_021969.3(NR0B2):c.646C>T (p.Arg216Cys)	NR0B2, NUDC (R216C)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2631992	NM_021969.3(NR0B2):c.638G>A (p.Arg213His)	NR0B2, NUDC (R213H)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2502159	NM_021969.3(NR0B2):c.637C>T (p.Arg213Cys)	NR0B2, NUDC (R213C)	Single nucleotide variant (missense variant)	Inherited obesity	GUncertain significance
Select item 3060024	NM_021969.3(NR0B2):c.632A>G (p.Gln211Arg)	NR0B2, NUDC (Q211R)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3358230	NM_021969.3(NR0B2):c.629C>T (p.Ala210Val)	NR0B2, NUDC (A210V)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2636313	NM_021969.3(NR0B2):c.625G>A (p.Ala209Thr)	NR0B2, NUDC (A209T)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3353972	NM_021969.3(NR0B2):c.620G>A (p.Cys207Tyr)	NR0B2, NUDC (C207Y)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3054056	NM_021969.3(NR0B2):c.618G>A (p.Trp206Ter)	NR0B2, NUDC (W206*)	Single nucleotide variant (nonsense)	NR0B2-related disorder	GUncertain significance
Select item 3356153	NM_021969.3(NR0B2):c.599G>A (p.Cys200Tyr)	NR0B2, NUDC (C200Y)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3362668	NM_021969.3(NR0B2):c.596T>C (p.Leu199Pro)	NR0B2, NUDC (L199P)	Single nucleotide variant (missense variant)	Inherited obesity	GUncertain significance
Select item 3345276	NM_021969.3(NR0B2):c.594G>A (p.Val198=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 5427	NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser)	NR0B2, NUDC (A195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357839	NM_021969.3(NR0B2):c.564T>C (p.Ile188=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 3300912	NM_021969.3(NR0B2):c.562A>T (p.Ile188Phe)	NR0B2, NUDC (I188F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3353518	NM_021969.3(NR0B2):c.561C>T (p.His187=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 2731775	NM_021969.3(NR0B2):c.553G>A (p.Ala185Thr)	NR0B2, NUDC (A185T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356421	NM_021969.3(NR0B2):c.533-4A>G	NR0B2, NUDC	Single nucleotide variant (intron variant)	NR0B2-related disorder	GLikely benign
Select item 211685	NM_021969.3(NR0B2):c.532G>A (p.Asp178Asn)	NR0B2, NUDC (D178N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3355668	NM_021969.3(NR0B2):c.531C>T (p.Pro177=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 2618016	NM_021969.3(NR0B2):c.530C>A (p.Pro177His)	NR0B2, NUDC (P177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803829	NM_021969.3(NR0B2):c.528C>A (p.Asn176Lys)	NR0B2, NUDC (N176K)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 2297335	NM_021969.3(NR0B2):c.521T>C (p.Leu174Pro)	NR0B2, NUDC (L174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 595423	NM_021969.3(NR0B2):c.512G>C (p.Gly171Ala)	NR0B2, NUDC (G171A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2502267	NM_021969.3(NR0B2):c.497A>G (p.Tyr166Cys)	NR0B2, NUDC (Y166C)	Single nucleotide variant (missense variant)	Inherited obesity	GUncertain significance
Select item 3349238	NM_021969.3(NR0B2):c.476T>C (p.Leu159Pro)	NR0B2, NUDC (L159P)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 782367	NM_021969.3(NR0B2):c.473G>A (p.Ser158Asn)	NR0B2, NUDC (S158N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3357877	NM_021969.3(NR0B2):c.468C>T (p.Phe156=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 3356819	NM_021969.3(NR0B2):c.461A>C (p.Glu154Ala)	NR0B2, NUDC (E154A)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3353588	NM_021969.3(NR0B2):c.451T>C (p.Cys151Arg)	NR0B2, NUDC (C151R)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 752885	NM_021969.3(NR0B2):c.450A>G (p.Gln150=)	NUDC, NR0B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3355580	NM_021969.3(NR0B2):c.441G>A (p.Gln147=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 3034927	NM_021969.3(NR0B2):c.435G>A (p.Ala145=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 2596292	NM_021969.3(NR0B2):c.434C>T (p.Ala145Val)	NR0B2, NUDC (A145V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3045562	NM_021969.3(NR0B2):c.426C>T (p.Ser142=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 3058115	NM_021969.3(NR0B2):c.415C>T (p.Pro139Ser)	NR0B2, NUDC (P139S)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3357921	NM_021969.3(NR0B2):c.405G>A (p.Leu135=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 3353047	NM_021969.3(NR0B2):c.392G>A (p.Gly131Asp)	NR0B2, NUDC (G131D)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2803058	NM_021969.3(NR0B2):c.389G>C (p.Gly130Ala)	NR0B2, NUDC (G130A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352029	NM_021969.3(NR0B2):c.376C>G (p.Pro126Ala)	NR0B2, NUDC (P126A)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2636614	NM_021969.3(NR0B2):c.352C>G (p.Leu118Val)	NR0B2, NUDC (L118V)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2916734	NM_021969.3(NR0B2):c.343C>T (p.Pro115Ser)	NR0B2, NUDC (P115S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336545	NM_021969.3(NR0B2):c.339G>A (p.Pro113=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2634987	NM_021969.3(NR0B2):c.338C>T (p.Pro113Leu)	NR0B2, NUDC (P113L)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3201856	NM_021969.3(NR0B2):c.328G>C (p.Ala110Pro)	NR0B2, NUDC (A110P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3356537	NM_021969.3(NR0B2):c.317C>T (p.Thr106Ile)	NR0B2, NUDC (T106I)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2228124	NM_021969.3(NR0B2):c.310G>C (p.Ala104Pro)	NR0B2, NUDC (A104P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032173	NM_021969.3(NR0B2):c.303C>T (p.Ala101=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 636298	NM_021969.3(NR0B2):c.293_301delinsAC (p.Leu98fs)	NR0B2, NUDC (L98fs)	Indel (frameshift variant)	Obesity	GLikely pathogenic
Select item 3358001	NM_021969.3(NR0B2):c.290T>C (p.Leu97Pro)	NR0B2, NUDC (L97P)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 1694501	NM_021969.3(NR0B2):c.278G>A (p.Gly93Asp)	NUDC, NR0B2 (G93D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634784	NM_021969.3(NR0B2):c.265C>T (p.Gln89Ter)	NR0B2, NUDC (Q89*)	Single nucleotide variant (nonsense)	NR0B2-related disorder	GUncertain significance
Select item 2632413	NM_021969.3(NR0B2):c.257G>A (p.Arg86Gln)	NR0B2, NUDC (R86Q)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2634174	NM_021969.3(NR0B2):c.256C>T (p.Arg86Trp)	NR0B2, NUDC (R86W)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2432311	NM_021969.3(NR0B2):c.253_254dup (p.Arg86fs)	NR0B2, NUDC (R86fs)	Duplication (frameshift variant)	Inherited obesity	GLikely pathogenic
Select item 2395484	NM_021969.3(NR0B2):c.254G>A (p.Arg85Gln)	NR0B2, NUDC (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350489	NM_021969.3(NR0B2):c.253C>T (p.Arg85Trp)	NR0B2, NUDC (R85W)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 1901134	NM_021969.3(NR0B2):c.250C>G (p.Gln84Glu)	NR0B2, NUDC (Q84E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636300	NM_021969.3(NR0B2):c.227del (p.Phe76fs)	NR0B2, NUDC (F76fs)	Deletion (frameshift variant)	Obesity	GPathogenic
Select item 2370527	NM_021969.3(NR0B2):c.224C>T (p.Ser75Phe)	NR0B2, NUDC (S75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354365	NM_021969.3(NR0B2):c.221C>T (p.Pro74Leu)	NR0B2, NUDC (P74L)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2584606	NM_021969.3(NR0B2):c.211A>G (p.Arg71Gly)	NUDC, NR0B2 (R71G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2634206	NM_021969.3(NR0B2):c.203C>T (p.Ala68Val)	NR0B2, NUDC (A68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3358192	NM_021969.3(NR0B2):c.186T>C (p.Val62=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 3348982	NM_021969.3(NR0B2):c.172dup (p.Glu58fs)	NR0B2, NUDC (E58fs)	Duplication (frameshift variant)	NR0B2-related disorder	GUncertain significance
Select item 3035646	NM_021969.3(NR0B2):c.170G>A (p.Arg57Gln)	NR0B2, NUDC (R57Q)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 636299	NM_021969.3(NR0B2):c.157_166del (p.His53fs)	NR0B2, NUDC (H53fs)	Deletion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 449569	NM_021969.3(NR0B2):c.160C>T (p.Arg54Cys)	NR0B2, NUDC (R54C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348572	NM_021969.3(NR0B2):c.155C>G (p.Pro52Arg)	NR0B2, NUDC (P52R)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 3345960	NM_021969.3(NR0B2):c.153A>C (p.Ala51=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 3055151	NM_021969.3(NR0B2):c.144G>A (p.Gln48=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	NR0B2-related disorder	GLikely benign
Select item 3028954	NM_021969.3(NR0B2):c.139G>A (p.Val47Ile)	NR0B2, NUDC (V47I)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 1587422	NM_021969.3(NR0B2):c.138C>T (p.Pro46=)	NR0B2, NUDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352140	NM_021969.3(NR0B2):c.134G>C (p.Arg45Pro)	NR0B2, NUDC (R45P)	Single nucleotide variant (missense variant)	NR0B2-related disorder	GUncertain significance
Select item 2919166	NM_021969.3(NR0B2):c.134G>A (p.Arg45Gln)	NR0B2, NUDC (R45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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