WDR47[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146897	GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3	AKNAD1, CFAP276 +21 more	Copy number gain	See cases	GUncertain significance
Select item 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
Select item 3332851	NM_001142551.2(WDR47):c.2696A>T (p.Gln899Leu)	WDR47 (Q900L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305137	NM_001142551.2(WDR47):c.2669A>G (p.Lys890Arg)	WDR47 (K891R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332849	NM_001142551.2(WDR47):c.2662A>C (p.Lys888Gln)	WDR47 (K888Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545431	NM_001142551.2(WDR47):c.2469C>G (p.Ser823Arg)	WDR47 (S824R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638966	NM_001142551.2(WDR47):c.2406A>G (p.Ala802=)	WDR47	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190075	NM_001142551.2(WDR47):c.2333T>C (p.Val778Ala)	WDR47 (V779A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274482	NM_001142551.2(WDR47):c.2204G>C (p.Cys735Ser)	WDR47 (C735S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673280	NM_001142551.2(WDR47):c.1976A>C (p.His659Pro)	WDR47 (H659P +2 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 3332846	NM_001142551.2(WDR47):c.1921C>G (p.Pro641Ala)	WDR47 (P641A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332850	NM_001142551.2(WDR47):c.1780A>G (p.Lys594Glu)	WDR47 (K602E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190074	NM_001142551.2(WDR47):c.1744C>G (p.Leu582Val)	WDR47 (L583V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595642	NM_001142551.2(WDR47):c.1706C>T (p.Ser569Leu)	WDR47 (S569L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360593	NM_001142551.2(WDR47):c.1685G>A (p.Ser562Asn)	WDR47 (S562N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332847	NM_001142551.2(WDR47):c.1613T>C (p.Ile538Thr)	WDR47 (I538T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607734	NM_001142551.2(WDR47):c.1604C>T (p.Ala535Val)	WDR47 (A536V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253346	NM_001142551.2(WDR47):c.1384G>C (p.Glu462Gln)	WDR47 (E463Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558820	NM_001142551.2(WDR47):c.1325A>G (p.Gln442Arg)	WDR47 (Q442R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332848	NM_001142551.2(WDR47):c.1223A>G (p.Asn408Ser)	WDR47 (N416S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470110	NM_001142551.2(WDR47):c.1207G>A (p.Ala403Thr)	WDR47 (A403T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216465	NM_001142551.2(WDR47):c.1136C>T (p.Thr379Ile)	WDR47 (T379I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290778	NM_001142551.2(WDR47):c.1057G>A (p.Val353Ile)	WDR47 (V360I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190080	NM_001142551.2(WDR47):c.680T>C (p.Leu227Pro)	WDR47 (L234P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067114	NM_001142551.2(WDR47):c.578G>A (p.Arg193His)	WDR47 (R193H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3190079	NM_001142551.2(WDR47):c.569G>A (p.Ser190Asn)	WDR47 (S190N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190078	NM_001142551.2(WDR47):c.467A>G (p.Asn156Ser)	WDR47 (N156S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313415	NM_001142551.2(WDR47):c.461A>G (p.Asp154Gly)	WDR47 (D154G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252216	NM_001142551.2(WDR47):c.434G>A (p.Arg145His)	WDR47 (R145H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190077	NM_001142551.2(WDR47):c.311A>C (p.Glu104Ala)	WDR47 (E104A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347446	NM_001142551.2(WDR47):c.247C>T (p.Arg83Cys)	WDR47 (R83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190076	NM_001142551.2(WDR47):c.236A>G (p.Lys79Arg)	WDR47 (K79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541340	NM_001142551.2(WDR47):c.185A>G (p.Asp62Gly)	WDR47 (D62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063332	GRCh37/hg19 1p13.3(chr1:109402942-109807574)x3	CELSR2, CFAP276 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3063099	GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	AKNAD1, CELSR2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 2685815	GRCh37/hg19 1p13.3(chr1:109494147-109818306)x3	CLCC1, ELAPOR1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423588	NC_000001.10:g.(?_109428145)_(109817590_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 1808862	GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808806	GRCh37/hg19 1p13.3(chr1:109396971-109807574)x3	AKNAD1, CELSR2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808154	GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1527248	GRCh37/hg19 1p13.3(chr1:109396970-109807574)	AKNAD1, CELSR2 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 1010549	NC_000001.10:g.(?_109428145)_(109816671_?)dup	CELSR2, CFAP276 +7 more	Duplication	not provided	GUncertain significance
Select item 814117	GRCh37/hg19 1p13.3(chr1:109396970-109807574)x1	GPSM2, CFAP276 +8 more	Copy number loss	not provided	GUncertain significance
Select item 686200	GRCh37/hg19 1p13.3(chr1:109425142-109703243)x3	CFAP276, CLCC1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 585239	GRCh37/hg19 1p13.3(chr1:109428017-109779697)x3	ELAPOR1, GPSM2 +6 more	Copy number gain	not provided	Gnot provided
Select item 443506	GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3	AKNAD1, CELSR2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 62