WDR41[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 59627	GRCh38/hg38 5q13.3-14.1(chr5:77018109-78190068)x1	AGGF1, AP3B1 +23 more	Copy number loss	See cases	GPathogenic
Select item 2402928	NM_018268.4(WDR41):c.1307G>A (p.Arg436Gln)	WDR41 (R436Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190039	NM_018268.4(WDR41):c.1270G>A (p.Ala424Thr)	WDR41 (A424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620575	NM_018268.4(WDR41):c.1184T>C (p.Leu395Pro)	WDR41 (L395P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601300	NM_018268.4(WDR41):c.1183C>G (p.Leu395Val)	WDR41 (L395V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529249	NM_018268.4(WDR41):c.1178G>C (p.Cys393Ser)	WDR41 (C393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190038	NM_018268.4(WDR41):c.1167T>G (p.Asn389Lys)	WDR41 (N389K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538834	NM_018268.4(WDR41):c.1166A>G (p.Asn389Ser)	WDR41 (N389S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332833	NM_018268.4(WDR41):c.1151A>C (p.Lys384Thr)	WDR41 (K384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190037	NM_018268.4(WDR41):c.1079A>C (p.Glu360Ala)	WDR41 (E360A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301151	NM_018268.4(WDR41):c.1057G>C (p.Glu353Gln)	WDR41 (E353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355664	NM_018268.4(WDR41):c.998C>T (p.Pro333Leu)	WDR41 (P333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508724	NM_018268.4(WDR41):c.965A>G (p.His322Arg)	WDR41 (H322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190043	NM_018268.4(WDR41):c.931A>G (p.Met311Val)	WDR41 (M311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487191	NM_018268.4(WDR41):c.884A>G (p.Asn295Ser)	WDR41 (N295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358938	NM_018268.4(WDR41):c.847G>A (p.Asp283Asn)	WDR41 (D283N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620404	NM_018268.4(WDR41):c.760A>G (p.Thr254Ala)	WDR41 (T254A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531795	NM_018268.4(WDR41):c.724G>A (p.Val242Ile)	WDR41 (V242I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3332834	NM_018268.4(WDR41):c.659A>G (p.Asp220Gly)	WDR41 (D220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332832	NM_018268.4(WDR41):c.650G>A (p.Arg217His)	WDR41 (R217H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526275	NM_018268.4(WDR41):c.451G>A (p.Gly151Ser)	WDR41 (G151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231978	NM_018268.4(WDR41):c.440T>C (p.Val147Ala)	WDR41 (V147A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511725	NM_018268.4(WDR41):c.433C>G (p.Leu145Val)	WDR41 (L145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190041	NM_018268.4(WDR41):c.379C>G (p.Gln127Glu)	WDR41 (Q127E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190040	NM_018268.4(WDR41):c.173C>A (p.Ala58Glu)	WDR41 (A58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359624	NM_018268.4(WDR41):c.101C>A (p.Thr34Asn)	WDR41 (T34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550591	NM_018268.4(WDR41):c.76G>A (p.Glu26Lys)	WDR41 (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332830	NM_018268.4(WDR41):c.71T>C (p.Ile24Thr)	WDR41 (I24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391963	NM_018268.4(WDR41):c.50A>C (p.Glu17Ala)	WDR41 (E17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332831	NM_018268.4(WDR41):c.19G>C (p.Gly7Arg)	WDR41 (G7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685159	GRCh37/hg19 5q13.3-14.1(chr5:76635144-77156308)x1	OTP, PDE8B +2 more	Copy number loss	not provided	GUncertain significance
Select item 2424719	NC_000005.9:g.(?_76115008)_(78281071_?)del	AGGF1, AP3B1 +11 more	Deletion	Hermansky-Pudlak syndrome 2	GPathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 689309	GRCh37/hg19 5q13.3(chr5:76683620-76810358)x3	PDE8B, WDR41	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 39