WDR5B-DT[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	ADPRH, ARGFX +199 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ADCY5, ALDH1L1 +214 more	Copy number loss	See cases	GPathogenic
Select item 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 2411068	NM_002264.4(KPNA1):c.1537A>G (p.Ile513Val)	KPNA1, WDR5B-DT (I513V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336289	NM_002264.4(KPNA1):c.1426T>G (p.Tyr476Asp)	KPNA1, WDR5B-DT (Y476D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265181	NM_002264.4(KPNA1):c.1258G>A (p.Val420Ile)	KPNA1, WDR5B-DT (V420I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774847	NM_002264.4(KPNA1):c.1185G>A (p.Arg395=)	KPNA1, WDR5B-DT	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3116166	NM_002264.4(KPNA1):c.1022A>G (p.Gln341Arg)	KPNA1, WDR5B-DT (Q341R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance