WDR82[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 2487120	NM_025222.4(WDR82):c.883A>G (p.Met295Val)	WDR82 (M295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318980	NM_025222.4(WDR82):c.663T>G (p.Ile221Met)	WDR82 (I221M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547572	NM_025222.4(WDR82):c.584G>T (p.Cys195Phe)	WDR82 (C195F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322378	NM_025222.4(WDR82):c.387G>T (p.Lys129Asn)	WDR82 (K129N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332971	NM_025222.4(WDR82):c.327G>A (p.Arg109=)	WDR82	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3190296	NM_025222.4(WDR82):c.82G>A (p.Asp28Asn)	WDR82 (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190295	NM_025222.4(WDR82):c.59A>G (p.Asn20Ser)	WDR82 (N20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 687764	GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1	ALAS1, BAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic