WDR48[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 2653682	NM_020839.4(WDR48):c.48+9G>C	WDR48	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 786873	NM_020839.4(WDR48):c.105T>C (p.Ala35=)	WDR48	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2466109	NM_020839.4(WDR48):c.112C>G (p.Leu38Val)	WDR48 (L38V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2456762	NM_020839.4(WDR48):c.128A>G (p.Asn43Ser)	WDR48 (N43S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3060884	NM_020839.4(WDR48):c.249C>G (p.Leu83=)	WDR48	Single nucleotide variant (synonymous variant +3 more)	WDR48-related condition	GBenign
Select item 3043116	NM_020839.4(WDR48):c.269-8T>G	WDR48	Single nucleotide variant (intron variant)	WDR48-related condition	GLikely benign
Select item 424665	NM_020839.4(WDR48):c.280T>G (p.Ser94Ala)	WDR48 (S94A +3 more)	Single nucleotide variant (missense variant +3 more)	WDR48-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2303801	NM_020839.4(WDR48):c.461C>T (p.Ala154Val)	WDR48 (A72V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3040306	NM_020839.4(WDR48):c.481+176C>T	WDR48	Single nucleotide variant (synonymous variant +1 more)	WDR48-related condition	GLikely benign
Select item 2636654	NM_020839.4(WDR48):c.511A>G (p.Ile171Val)	WDR48 (I101V +5 more)	Single nucleotide variant (missense variant +2 more)	WDR48-related condition	GUncertain significance
Select item 2334121	NM_020839.4(WDR48):c.668C>T (p.Thr223Met)	WDR48 (T141M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190082	NM_020839.4(WDR48):c.730T>A (p.Cys244Ser)	WDR48 (C174S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462118	NM_020839.4(WDR48):c.923C>T (p.Pro308Leu)	WDR48 (P346L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190081	NM_020839.4(WDR48):c.1012T>A (p.Tyr338Asn)	WDR48 (Y256N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333671	NM_020839.4(WDR48):c.1028C>G (p.Thr343Arg)	WDR48 (T286R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299713	NM_020839.4(WDR48):c.1049G>C (p.Cys350Ser)	WDR48 (C280S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057311	NM_020839.4(WDR48):c.1076-6C>T	WDR48	Single nucleotide variant (intron variant)	WDR48-related condition	GLikely benign
Select item 3040928	NM_020839.4(WDR48):c.1551T>C (p.Phe517=)	WDR48	Single nucleotide variant (synonymous variant +1 more)	WDR48-related condition	GLikely benign
Select item 3055098	NM_020839.4(WDR48):c.1644A>G (p.Gln548=)	WDR48	Single nucleotide variant (synonymous variant +1 more)	WDR48-related condition	GLikely benign
Select item 3050664	NM_020839.4(WDR48):c.1682A>G (p.Lys561Arg)	WDR48 (K386R +6 more)	Single nucleotide variant (missense variant +1 more)	WDR48-related condition	GBenign
Select item 3040601	NM_020839.4(WDR48):c.1884A>G (p.Glu628=)	WDR48	Single nucleotide variant (synonymous variant +1 more)	WDR48-related condition	GLikely benign
Select item 2232653	NM_020839.4(WDR48):c.2006C>T (p.Thr669Ile)	WDR48 (T587I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	EFHB, EIF1B +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 101082	WDR48, 3-BP DEL, 1879AAG	WDR48	Deletion	not provided	GUncertain significance

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Items: 30