22884[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	ADARB2, ADARB2-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	ADARB2, ADARB2-AS1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 149271	GRCh38/hg38 10p15.3-15.2(chr10:538646-3636571)x1	ADARB2, ADARB2-AS1 +86 more	Copy number loss	See cases	GUncertain significance
Select item 57853	GRCh38/hg38 10p15.3(chr10:730608-1358880)x3	ADARB2, GTPBP4 +27 more	Copy number gain	See cases	GUncertain significance
Select item 154592	GRCh38/hg38 10p15.3(chr10:899498-1339873)x3	ADARB2, GTPBP4 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148515	GRCh38/hg38 10p15.3(chr10:918720-1843751)x4	ADARB2, ADARB2-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 2640271	NM_014023.4(WDR37):c.15C>T (p.Ser5=)	WDR37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233142	NM_014023.4(WDR37):c.26C>T (p.Ser9Leu)	WDR37 (S9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282009	NM_014023.4(WDR37):c.52C>T (p.Arg18Cys)	WDR37 (R18C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190012	NM_014023.4(WDR37):c.79A>G (p.Arg27Gly)	WDR37 (R27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3350929	NM_014023.4(WDR37):c.104G>A (p.Arg35Lys)	WDR37 (R35K)	Single nucleotide variant (missense variant)	WDR37-related disorder	GUncertain significance
Select item 3045494	NM_014023.4(WDR37):c.105G>A (p.Arg35=)	WDR37	Single nucleotide variant (synonymous variant)	WDR37-related disorder	GLikely benign
Select item 3054836	NM_014023.4(WDR37):c.138+10G>A	WDR37	Single nucleotide variant (intron variant)	WDR37-related disorder	GLikely benign
Select item 2516974	NM_014023.4(WDR37):c.158C>T (p.Ser53Leu)	WDR37 (S53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052520	NM_014023.4(WDR37):c.175C>G (p.Leu59Val)	WDR37 (L59V)	Single nucleotide variant (missense variant)	WDR37-related disorder	GUncertain significance
Select item 2640272	NM_014023.4(WDR37):c.212A>G (p.Asn71Ser)	WDR37 (N71S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 978120	NM_014023.4(WDR37):c.250G>A (p.Asp84Asn)	WDR37 (D84N)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2629090	NM_014023.4(WDR37):c.311A>G (p.Lys104Arg)	WDR37 (K104R)	Single nucleotide variant (missense variant)	WDR37-related disorder	GUncertain significance
Select item 2307757	NM_014023.4(WDR37):c.325A>G (p.Thr109Ala)	WDR37 (T109A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031227	NM_014023.4(WDR37):c.344C>T (p.Thr115Ile)	WDR37 (T115I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 633617	NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)	WDR37 (S119F)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome +6 more	GPathogenic/Likely pathogenic
Select item 2640273	NM_014023.4(WDR37):c.363A>G (p.Lys121=)	WDR37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1199795	NM_014023.4(WDR37):c.373A>G (p.Thr125Ala)	WDR37 (T125A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 440948	NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)	WDR37 (T125I)	Single nucleotide variant (missense variant)	Congenital cerebellar hypoplasia +6 more	GPathogenic/Likely pathogenic
Select item 633616	NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)	WDR37 (S129C)	Single nucleotide variant (missense variant)	Epilepsy +5 more	GLikely pathogenic
Select item 633618	NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)	WDR37 (T130I)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome +7 more	GPathogenic/Likely pathogenic
Select item 1175763	NM_014023.4(WDR37):c.406A>T (p.Ser136Cys)	WDR37 (S136C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2629390	NM_014023.4(WDR37):c.419C>T (p.Thr140Met)	WDR37 (T140M)	Single nucleotide variant (missense variant)	WDR37-related disorder	GUncertain significance
Select item 3054333	NM_014023.4(WDR37):c.429A>G (p.Arg143=)	WDR37	Single nucleotide variant (synonymous variant)	WDR37-related disorder	GLikely benign
Select item 2571986	NM_014023.4(WDR37):c.485T>G (p.Val162Gly)	WDR37 (V162G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2256315	NM_014023.4(WDR37):c.493G>A (p.Ala165Thr)	WDR37 (A165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513104	NM_014023.4(WDR37):c.523G>T (p.Ala175Ser)	WDR37 (A175S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2640274	NM_014023.4(WDR37):c.531C>T (p.Ala177=)	WDR37	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2279214	NM_014023.4(WDR37):c.539C>T (p.Thr180Met)	WDR37 (T180M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3332815	NM_014023.4(WDR37):c.566G>A (p.Gly189Glu)	WDR37 (G189E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1279921	NM_014023.4(WDR37):c.659A>G (p.Asp220Gly)	LOC126860809, WDR37 (D220G)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GLikely pathogenic
Select item 2462352	NM_014023.4(WDR37):c.686C>T (p.Ala229Val)	LOC126860809, WDR37 (A229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1311653	NM_014023.4(WDR37):c.694C>G (p.Leu232Val)	LOC126860809, WDR37 (L232V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2546734	NM_014023.4(WDR37):c.721A>G (p.Thr241Ala)	LOC126860809, WDR37 (T241A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1185321	NM_014023.4(WDR37):c.726+22T>C	LOC126860809, WDR37	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2506456	NM_014023.4(WDR37):c.727-27_727-24del	WDR37	Microsatellite (intron variant)	Neurooculocardiogenitourinary syndrome	GLikely pathogenic
Select item 2443495	NM_014023.4(WDR37):c.740A>G (p.Asp247Gly)	WDR37 (D247G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279923	NM_014023.4(WDR37):c.770C>A (p.Pro257His)	WDR37 (P257H)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GUncertain significance
Select item 3190011	NM_014023.4(WDR37):c.775C>G (p.Leu259Val)	WDR37 (L259V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1279922	NM_014023.4(WDR37):c.778G>A (p.Asp260Asn)	WDR37 (D260N)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GLikely pathogenic
Select item 1707761	NM_014023.4(WDR37):c.800G>C (p.Cys267Ser)	WDR37 (C267S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2495556	NM_014023.4(WDR37):c.805A>G (p.Thr269Ala)	WDR37 (T269A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441964	NM_014023.4(WDR37):c.808A>C (p.Ile270Leu)	WDR37 (I270L)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GUncertain significance
Select item 1341782	NM_014023.4(WDR37):c.808A>G (p.Ile270Val)	WDR37 (I270V)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GUncertain significance
Select item 2635533	NM_014023.4(WDR37):c.829C>T (p.Leu277Phe)	WDR37 (L277F)	Single nucleotide variant (missense variant)	WDR37-related disorder	GUncertain significance
Select item 1699001	NM_014023.4(WDR37):c.850G>T (p.Val284Phe)	WDR37 (V284F)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GUncertain significance
Select item 2534145	NM_014023.4(WDR37):c.856G>A (p.Ala286Thr)	WDR37 (A286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3190013	NM_014023.4(WDR37):c.872T>C (p.Val291Ala)	WDR37 (V291A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3190015	NM_014023.4(WDR37):c.881A>T (p.Lys294Met)	WDR37 (K294M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136232	NM_014023.4(WDR37):c.920T>C (p.Leu307Pro)	WDR37 (L307P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640275	NM_014023.4(WDR37):c.924C>T (p.Tyr308=)	WDR37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683656	NM_014023.4(WDR37):c.928G>A (p.Val310Met)	WDR37 (V310M)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GUncertain significance
Select item 2505873	NM_014023.4(WDR37):c.934A>T (p.Thr312Ser)	WDR37 (T312S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2410569	NM_014023.4(WDR37):c.946G>A (p.Val316Ile)	WDR37 (V316I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3044266	NM_014023.4(WDR37):c.963G>T (p.Gly321=)	WDR37	Single nucleotide variant (synonymous variant)	WDR37-related disorder	GLikely benign
Select item 3190016	NM_014023.4(WDR37):c.971A>G (p.Gln324Arg)	WDR37 (Q324R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3352069	NM_014023.4(WDR37):c.981G>A (p.Thr327=)	WDR37	Single nucleotide variant (synonymous variant)	WDR37-related disorder	GLikely benign
Select item 1314600	NM_014023.4(WDR37):c.1073A>C (p.His358Pro)	WDR37 (H358P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2640276	NM_014023.4(WDR37):c.1083T>C (p.Asn361=)	WDR37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1690599	NM_014023.4(WDR37):c.1103+10G>A	WDR37	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2572309	NM_014023.4(WDR37):c.1139A>G (p.Asn380Ser)	WDR37 (N380S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036850	NM_014023.4(WDR37):c.1155C>T (p.Ser385=)	WDR37	Single nucleotide variant (synonymous variant)	WDR37-related disorder	GLikely benign
Select item 2632400	NM_014023.4(WDR37):c.1156G>T (p.Asp386Tyr)	WDR37 (D386Y)	Single nucleotide variant (missense variant)	WDR37-related disorder	GUncertain significance
Select item 3190007	NM_014023.4(WDR37):c.1166C>T (p.Thr389Met)	WDR37 (T389M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2640277	NM_014023.4(WDR37):c.1176C>T (p.Val392=)	WDR37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306370	NM_014023.4(WDR37):c.1217G>A (p.Arg406His)	WDR37 (R406H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043959	NM_014023.4(WDR37):c.1239-9T>A	WDR37	Single nucleotide variant (intron variant)	WDR37-related disorder	GLikely benign
Select item 2461819	NM_014023.4(WDR37):c.1244A>G (p.Asn415Ser)	WDR37 (N415S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3190008	NM_014023.4(WDR37):c.1255G>A (p.Gly419Ser)	WDR37 (G419S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2205846	NM_014023.4(WDR37):c.1260A>T (p.Gln420His)	WDR37 (Q420H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332814	NM_014023.4(WDR37):c.1339C>T (p.Arg447Trp)	WDR37 (R447W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428810	NM_014023.4(WDR37):c.1367T>C (p.Met456Thr)	WDR37 (M456T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3190009	NM_014023.4(WDR37):c.1381G>T (p.Ala461Ser)	WDR37 (A461S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3049719	NM_014023.4(WDR37):c.1383A>G (p.Ala461=)	WDR37	Single nucleotide variant (synonymous variant)	WDR37-related disorder	GLikely benign
Select item 2406441	NM_014023.4(WDR37):c.1396C>T (p.His466Tyr)	WDR37 (H466Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342458	NM_014023.4(WDR37):c.1444G>C (p.Gly482Arg)	WDR37 (G482R)	Single nucleotide variant (missense variant)	Neurooculocardiogenitourinary syndrome	GUncertain significance
Select item 3190010	NM_014023.4(WDR37):c.1445G>C (p.Gly482Ala)	WDR37 (G482A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3338581	NM_014023.4(WDR37):c.1474C>T (p.Gln492Ter)	WDR37 (Q492*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3148908	GRCh37/hg19 10p15.3(chr10:100048-1247374)x1	ADARB2, DIP2C +6 more	Copy number loss	See cases	GPathogenic
Select item 2684593	GRCh37/hg19 10p15.3(chr10:1171077-1526667)x3	ADARB2, WDR37	Copy number gain	not provided	GUncertain significance
Select item 2684592	GRCh37/hg19 10p15.3(chr10:1125769-1979930)x3	ADARB2, WDR37	Copy number gain	not provided	GUncertain significance
Select item 2684591	GRCh37/hg19 10p15.3(chr10:1006757-1443180)x3	ADARB2, GTPBP4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809451	GRCh37/hg19 10p15.3(chr10:307769-1845696)x4	ADARB2, DIP2C +5 more	Copy number gain	not provided	GUncertain significance
Select item 1809234	GRCh37/hg19 10p15.3(chr10:1161120-1674822)x3	ADARB2, WDR37	Copy number gain	not provided	GUncertain significance

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