"Fulgent Genetics, Fulgent Genetics"[submitter] AND "OCRL"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 976515	NM_000276.4(OCRL):c.11C>T (p.Pro4Leu)	LOC113875008, OCRL (P4L)	Single nucleotide variant (missense variant)	Lowe syndrome +2 more	GLikely benign
Select item 1336606	NM_000276.4(OCRL):c.40A>G (p.Thr14Ala)	OCRL (T15A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1428454	NM_000276.4(OCRL):c.92C>T (p.Thr31Ile)	OCRL (T32I +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +1 more	GUncertain significance
Select item 588729	NM_000276.4(OCRL):c.105G>A (p.Arg35=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome +2 more	GBenign/Likely benign
Select item 1388778	NM_000276.4(OCRL):c.115T>C (p.Tyr39His)	OCRL (Y40H +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1285062	NM_000276.4(OCRL):c.152A>G (p.His51Arg)	OCRL (H51R +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2 +2 more	GBenign/Likely benign
Select item 1416798	NM_000276.4(OCRL):c.164T>C (p.Ile55Thr)	OCRL (I55T +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2 +1 more	GUncertain significance
Select item 1627201	NM_000276.4(OCRL):c.200-11dup	OCRL	Duplication (intron variant)	Lowe syndrome +1 more	GBenign/Likely benign
Select item 1627578	NM_000276.4(OCRL):c.284G>A (p.Arg95His)	OCRL (R95H +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +1 more	GBenign/Likely benign
Select item 589078	NM_000276.4(OCRL):c.375G>T (p.Glu125Asp)	OCRL (E125D +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +3 more	GBenign/Likely benign
Select item 1028175	NM_000276.4(OCRL):c.428C>T (p.Ser143Phe)	OCRL (S143F +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +2 more	GConflicting classifications of pathogenicity
Select item 92725	NM_000276.4(OCRL):c.439+3A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1522154	NM_000276.4(OCRL):c.561G>A (p.Met187Ile)	OCRL (M188I +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +1 more	GUncertain significance
Select item 587975	NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)	OCRL (G257R +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +2 more	GConflicting classifications of pathogenicity
Select item 702892	NM_000276.4(OCRL):c.912T>G (p.Gly304=)	OCRL	Single nucleotide variant (synonymous variant)	Lowe syndrome +1 more	GBenign/Likely benign
Select item 1455667	NM_000276.4(OCRL):c.953G>A (p.Arg318His)	OCRL (R318H +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +1 more	GPathogenic/Likely pathogenic
Select item 960576	NM_000276.4(OCRL):c.1244+1G>A	OCRL	Single nucleotide variant (splice donor variant)	Lowe syndrome +1 more	GPathogenic/Likely pathogenic
Select item 732134	NM_000276.4(OCRL):c.1587C>G (p.Ala529=)	OCRL	Single nucleotide variant (synonymous variant)	Dent disease type 2 +2 more	GLikely benign
Select item 1498312	NM_000276.4(OCRL):c.1889T>C (p.Val630Ala)	OCRL (V630A +1 more)	Single nucleotide variant (missense variant)	OCRL-related disorder +2 more	GUncertain significance
Select item 996976	NM_000276.4(OCRL):c.2066G>A (p.Arg689His)	OCRL (R689H +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1401454	NM_000276.4(OCRL):c.2138A>G (p.Lys713Arg)	OCRL (K714R +1 more)	Single nucleotide variant (missense variant +1 more)	Lowe syndrome +1 more	GUncertain significance
Select item 1168649	NM_000276.4(OCRL):c.2415C>T (p.Tyr805=)	OCRL	Single nucleotide variant (synonymous variant)	Dent disease type 2 +2 more	GBenign/Likely benign
Select item 10857	NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)	OCRL (R836* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 759843	NM_000276.4(OCRL):c.2563G>A (p.Val855Ile)	OCRL (V855I +2 more)	Single nucleotide variant (missense variant)	Lowe syndrome +2 more	GConflicting classifications of pathogenicity
Select item 772108	NM_000276.4(OCRL):c.2582-9G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome +1 more	GBenign

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Items: 25