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

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 1295669	NM_001909.5(CTSD):c.228+133C>G	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137049	NM_001909.5(CTSD):c.228+18G>T	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GBenign/Likely benign
Select item 137048	NM_001909.5(CTSD):c.228C>T (p.Asp76=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 205336	NM_001909.5(CTSD):c.216G>A (p.Lys72=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 128874	NM_001909.5(CTSD):c.189C>T (p.Thr63=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +4 more	GBenign/Likely benign
Select item 671128	NM_001909.5(CTSD):c.174G>A (p.Ala58=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 128873	NM_001909.5(CTSD):c.173C>T (p.Ala58Val)	CTSD, PRADX (A58V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 10 +4 more	GBenign/Likely benign
Select item 205335	NM_001909.5(CTSD):c.154G>A (p.Val52Ile)	CTSD, PRADX (V52I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 137047	NM_001909.5(CTSD):c.153C>T (p.Pro51=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 664342	NM_001909.5(CTSD):c.142G>A (p.Ala48Thr)	CTSD, PRADX (A48T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 452273	NM_001909.5(CTSD):c.135C>G (p.Asp45Glu)	CTSD, PRADX (D45E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449271	NM_001909.5(CTSD):c.131A>T (p.Glu44Val)	CTSD, PRADX (E44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710759	NM_001909.5(CTSD):c.122G>T (p.Gly41Val)	CTSD, PRADX (G41V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 205348	NM_001909.5(CTSD):c.100C>T (p.Arg34Trp)	CTSD, PRADX (R34W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 303841	NM_001909.5(CTSD):c.90G>A (p.Thr30=)	CTSD, PRADX	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +3 more	GConflicting classifications of pathogenicity
Select item 449144	NM_001909.5(CTSD):c.89C>T (p.Thr30Met)	CTSD, PRADX (T30M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 546437	NM_001909.5(CTSD):c.76C>A (p.Leu26Met)	CTSD, PRADX (L26M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 515813	NM_001909.5(CTSD):c.69-12C>T	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 380541	NM_001909.5(CTSD):c.69-16G>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 377758	NM_001909.5(CTSD):c.69-17C>A	CTSD, PRADX	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 205334	NM_001909.5(CTSD):c.69-17C>T	CTSD, PRADX	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1191360	NM_001909.5(CTSD):c.69-48C>T	PRADX, CTSD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214790	NM_001909.5(CTSD):c.69-53T>C	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277121	NM_001909.5(CTSD):c.69-63A>G	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673756	NM_001909.5(CTSD):c.69-64C>T	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197125	NM_001909.5(CTSD):c.69-277G>A	CTSD, PRADX	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 28