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

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59034	GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3	AATBC, AGPAT3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1245307	NC_000021.9:g.43718989_43718996dup	LOC130066785, PDXK	Duplication	not provided	GBenign
Select item 1229327	NC_000021.9:g.43719049G>T	LOC130066785, PDXK	Single nucleotide variant	not provided	GBenign
Select item 1248473	NM_003681.5(PDXK):c.-163A>G	LOC130066785, PDXK	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1285764	NM_003681.5(PDXK):c.88-199A>G	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248707	NM_003681.5(PDXK):c.142+140C>T	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279509	NM_003681.5(PDXK):c.142+171_142+172del	PDXK	Deletion (intron variant)	not provided	GBenign
Select item 1181584	NM_003681.5(PDXK):c.143-202G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231720	NM_003681.5(PDXK):c.143-116A>G	PDXK (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1261359	NM_003681.5(PDXK):c.247+198T>C	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243627	NM_003681.5(PDXK):c.331+78G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281595	NM_003681.5(PDXK):c.331+179G>T	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281094	NM_003681.5(PDXK):c.379-167T>C	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268466	NM_003681.5(PDXK):c.387G>A (p.Pro129=)	PDXK	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy +1 more	GBenign
Select item 1294914	NM_003681.5(PDXK):c.464+44A>G	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258034	NM_003681.5(PDXK):c.465-96A>G	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292034	NM_003681.5(PDXK):c.510+154A>G	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249501	NM_003681.5(PDXK):c.510+189TG[9]	PDXK	Microsatellite (intron variant)	not provided	GBenign
Select item 1279451	NM_003681.5(PDXK):c.511-20G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286429	NM_003681.5(PDXK):c.622+118G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269812	NM_003681.5(PDXK):c.623-233C>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246998	NM_003681.5(PDXK):c.639C>T (p.Ser213=)	PDXK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1250570	NM_003681.5(PDXK):c.759+105T>C	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175405	NM_003681.5(PDXK):c.760-209G>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241161	NM_003681.5(PDXK):c.760-8C>A	PDXK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267789	NM_003681.5(PDXK):c.*14T>C	PDXK	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253975	GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1	RRP1B, LRRC3 +22 more	Copy number loss	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic

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Items: 30