ClinVar for Gene (Select 349136) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202689	NM_001243351.2(NUB1):c.1495G>A (p.Val499Met)	NUB1, WDR86 (V485M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190312	NM_198285.3(WDR86):c.973G>A (p.Gly325Ser)	LOC129999646, WDR86 (G197S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190311	NM_198285.3(WDR86):c.92T>A (p.Leu31Gln)	WDR86, WDR86-AS1 (L31Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190310	NM_198285.3(WDR86):c.913G>A (p.Gly305Arg)	WDR86 (G177R +2 more)	Single nucleotide variant (nonsense +2 more)	not specified	GUncertain significance
Select item 3190309	NM_198285.3(WDR86):c.826C>T (p.Arg276Cys)	WDR86 (R148C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190308	NM_198285.3(WDR86):c.769G>A (p.Val257Ile)	WDR86 (R278H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190307	NM_198285.3(WDR86):c.737G>A (p.Arg246Gln)	WDR86 (R118Q +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3190306	NM_198285.3(WDR86):c.703C>T (p.Arg235Trp)	WDR86 (R107W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190305	NM_198285.3(WDR86):c.671G>C (p.Ser224Thr)	WDR86 (S96T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190304	NM_198285.3(WDR86):c.652C>T (p.Arg218Cys)	WDR86 (R90C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190303	NM_198285.3(WDR86):c.350G>A (p.Arg117Gln)	WDR86 (R117Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190302	NM_198285.3(WDR86):c.182C>A (p.Thr61Asn)	WDR86 (T61N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2596529	NM_198285.3(WDR86):c.56A>T (p.Asn19Ile)	WDR86, WDR86-AS1 (N19I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	KRBA1, LLCFC1 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2549881	NM_198285.3(WDR86):c.568C>T (p.Arg190Trp)	WDR86 (R190W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520615	NM_198285.3(WDR86):c.805C>T (p.Arg269Cys)	WDR86 (A290V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516068	NM_198285.3(WDR86):c.46G>A (p.Gly16Arg)	WDR86, WDR86-AS1 (G16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513046	NM_198285.3(WDR86):c.848A>G (p.Tyr283Cys)	WDR86 (Y155C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ASB10, ASIC3 +31 more	Deletion	not provided	GPathogenic
Select item 2426280	NC_000007.13:g.(?_150642453)_(151573705_?)del	ABCB8, ABCF2 +19 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 2402469	NM_198285.3(WDR86):c.638C>T (p.Thr213Ile)	WDR86 (T213I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394683	NM_001243351.2(NUB1):c.1568C>T (p.Ala523Val)	NUB1, WDR86 (A508V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387704	NM_198285.3(WDR86):c.487G>A (p.Gly163Arg)	WDR86 (G163R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377449	NM_198285.3(WDR86):c.697G>A (p.Glu233Lys)	WDR86 (E105K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375104	NM_198285.3(WDR86):c.197A>T (p.Glu66Val)	WDR86 (E66V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372392	NM_198285.3(WDR86):c.481G>A (p.Ala161Thr)	WDR86 (A33T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354450	NM_198285.3(WDR86):c.505G>A (p.Gly169Ser)	WDR86 (G41S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349084	NM_001243351.2(NUB1):c.1654C>T (p.Pro552Ser)	NUB1, WDR86 (P537S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345789	NM_198285.3(WDR86):c.1012C>T (p.Arg338Cys)	LOC129999646, WDR86 (R210C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334441	NM_198285.3(WDR86):c.1034T>G (p.Leu345Arg)	LOC129999646, WDR86 (L345R +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2330104	NM_198285.3(WDR86):c.764G>C (p.Arg255Thr)	WDR86 (R255T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317570	NM_198285.3(WDR86):c.409C>T (p.Arg137Cys)	WDR86 (R9C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313267	NM_198285.3(WDR86):c.224C>T (p.Ala75Val)	WDR86 (A75V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310939	NM_198285.3(WDR86):c.209C>A (p.Ala70Asp)	WDR86 (A70D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305139	NM_198285.3(WDR86):c.613G>T (p.Gly205Cys)	WDR86 (G77C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300742	NM_198285.3(WDR86):c.706G>A (p.Gly236Ser)	WDR86 (G236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291144	NM_198285.3(WDR86):c.280C>G (p.Arg94Gly)	WDR86 (R94G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281642	NM_198285.3(WDR86):c.712G>C (p.Val238Leu)	WDR86 (V110L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275665	NM_001243351.2(NUB1):c.1555G>T (p.Val519Phe)	NUB1, WDR86 (V519F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258882	NM_198285.3(WDR86):c.416G>C (p.Cys139Ser)	WDR86 (C11S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216852	NM_198285.3(WDR86):c.97G>A (p.Gly33Ser)	WDR86, WDR86-AS1 (G33S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216752	NM_198285.3(WDR86):c.290C>T (p.Thr97Met)	WDR86 (T97M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214314	NM_198285.3(WDR86):c.259G>A (p.Gly87Arg)	WDR86 (G87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210357	NM_198285.3(WDR86):c.608C>T (p.Thr203Met)	WDR86 (T75M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204624	NM_198285.3(WDR86):c.1055C>G (p.Pro352Arg)	LOC129999646, WDR86 (P224R +2 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1807607	GRCh37/hg19 7q36.1(chr7:149332630-151498689)x1	ABCB8, ABCF2 +40 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ABCB8, ABCF2 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	ABCF2, ACTR3B +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 1330211	GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1	ABCF2, AGAP3 +19 more	Copy number loss	Kleefstra syndrome 2	GPathogenic
Select item 1068862	NC_000007.13:g.(?_150642443)_(151385353_?)del	ATG9B, ABCB8 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 1027137	NC_000007.13:g.(?_150642453)_(152373165_?)dup	ASB10, ASIC3 +23 more	Duplication	Long QT syndrome	GUncertain significance
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 830594	NC_000007.13:g.(?_150642443)_(151385353_?)dup	ABCF2, ABCB8 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815050	GRCh37/hg19 7q36.1(chr7:151093231-151402949)x3	CRYGN, PRKAG2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 527120	NC_000007.13:g.(?_150642433)_(151573725_?)del	ASIC3, ASB10 +19 more	Deletion	Long QT syndrome	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442404	GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3	ABCB8, ABCF2 +43 more	Copy number gain	See cases	GLikely pathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	ABCB8, ABCF2 +166 more	Copy number gain	See cases	GPathogenic
Select item 393748	GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3	ABCB8, ABCF2 +63 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	LOC129389937, LOC129389938 +526 more	Copy number loss	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	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 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	LOC129999605, LOC129999606 +205 more	Copy number gain	See cases	GUncertain significance
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	TRC-GCA22-1, TRC-GCA23-1 +540 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ATG9B, ATP6V0E2 +473 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

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