"GeneDx"[submitter] AND "WDR44"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 3342362	NM_019045.5(WDR44):c.160G>C (p.Glu54Gln)	WDR44 (E54Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342392	NM_019045.5(WDR44):c.371C>T (p.Ala124Val)	WDR44 (A124V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301422	NM_019045.5(WDR44):c.1054-9del	WDR44	Deletion (intron variant)	not provided	GBenign
Select item 3342648	NM_019045.5(WDR44):c.1166T>G (p.Met389Arg)	WDR44 (M364R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372815	NM_019045.5(WDR44):c.1418A>T (p.Asp473Val)	WDR44 (D448V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342336	NM_019045.5(WDR44):c.1772A>G (p.Lys591Arg)	WDR44 (K566R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367609	NM_019045.5(WDR44):c.1820C>G (p.Thr607Ser)	WDR44 (T582S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342816	NM_019045.5(WDR44):c.2003T>C (p.Leu668Ser)	WDR44 (L668S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368505	NM_019045.5(WDR44):c.2141G>A (p.Gly714Asp)	WDR44 (G714D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342567	NM_019045.5(WDR44):c.2291C>G (p.Ser764Cys)	WDR44 (S675C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3360630	NM_019045.5(WDR44):c.2107A>C (p.Asn703His)	WDR44 (N703H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360042	NM_019045.5(WDR44):c.1133C>T (p.Pro378Leu)	WDR44 (P353L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 29