ClinVar for MedGen (Select 336867) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066348	NM_000276.4(OCRL):c.300del (p.Asp100fs)	OCRL (D100fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GLikely pathogenic
Select item 2506950	NM_000276.4(OCRL):c.1056+1G>A	OCRL	Single nucleotide variant (splice donor variant)	Dent disease type 2	GPathogenic
Select item 2504612	NM_000276.4(OCRL):c.1467-1G>A	OCRL	Single nucleotide variant (splice acceptor variant)	Dent disease type 2	GPathogenic
Select item 2500926	NM_000276.4(OCRL):c.111del (p.Gln38fs)	OCRL (Q38fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GLikely pathogenic
Select item 2412785	NM_000276.4(OCRL):c.2209G>A (p.Glu737Lys)	OCRL (E729K +2 more)	Single nucleotide variant (missense variant)	Dent disease type 2	GLikely pathogenic
Select item 2412679	NM_000276.4(OCRL):c.108del (p.Asn36fs)	OCRL (N36fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GLikely pathogenic
Select item 2067457	NM_000276.4(OCRL):c.1467-4dup	OCRL	Duplication (intron variant)	Dent disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1997375	NM_000276.4(OCRL):c.179G>A (p.Ser60Asn)	OCRL (S61N +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1805911	NM_000276.4(OCRL):c.1190T>A (p.Met397Lys)	OCRL (M397K +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2	GUncertain significance
Select item 1685997	NM_000276.4(OCRL):c.1458G>A (p.Trp486Ter)	OCRL (W486* +1 more)	Single nucleotide variant (nonsense)	Dent disease type 2	GPathogenic
Select item 1685996	NM_000276.4(OCRL):c.217_218del (p.Leu73fs)	OCRL (L73fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GPathogenic
Select item 1685388	NM_000276.4(OCRL):c.1713+2T>C	OCRL	Single nucleotide variant (splice donor variant)	Dent disease type 2	GLikely pathogenic
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 1627201	NM_000276.4(OCRL):c.200-11dup	OCRL	Duplication (intron variant)	Lowe syndrome +1 more	GBenign/Likely benign
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 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 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 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 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 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 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 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 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 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 1028176	NM_000276.4(OCRL):c.934A>G (p.Lys312Glu)	OCRL (K312E +1 more)	Single nucleotide variant (missense variant)	Lowe syndrome +1 more	GUncertain significance
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 1028174	NM_000276.4(OCRL):c.1656C>T (p.Arg552=)	OCRL	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 996976	NM_000276.4(OCRL):c.2066G>A (p.Arg689His)	OCRL (R689H +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 988168	NM_000276.4(OCRL):c.533del (p.Pro178fs)	OCRL (P178fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GLikely pathogenic
Select item 982581	NM_000276.4(OCRL):c.2651_2653del (p.Arg884del)	OCRL (R876del +2 more)	Deletion (inframe_deletion)	Dent disease type 2	GUncertain significance
Select item 982580	NM_000276.4(OCRL):c.1466+4A>G	OCRL	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 975017	NM_000276.4(OCRL):c.1245-1083G>A	OCRL	Single nucleotide variant (intron variant)	Dent disease type 2	GPathogenic
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 932947	NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu)	OCRL (P693L +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2	GPathogenic
Select item 772108	NM_000276.4(OCRL):c.2582-9G>A	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome +1 more	GBenign
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 732134	NM_000276.4(OCRL):c.1587C>G (p.Ala529=)	OCRL	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 702892	NM_000276.4(OCRL):c.912T>G (p.Gly304=)	OCRL	Single nucleotide variant (synonymous variant)	Dent disease type 2 +1 more	GBenign/Likely benign
Select item 641377	NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)	OCRL (R814* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
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 588729	NM_000276.4(OCRL):c.105G>A (p.Arg35=)	OCRL	Single nucleotide variant (synonymous variant)	Nephrolithiasis/nephrocalcinosis +2 more	GBenign/Likely benign
Select item 587975	NM_000276.4(OCRL):c.769G>A (p.Gly257Arg)	OCRL (G257R +1 more)	Single nucleotide variant (missense variant)	Nephrolithiasis/nephrocalcinosis +2 more	GConflicting classifications of pathogenicity
Select item 548655	NM_005540.3(INPP5B):c.152C>T (p.Ala51Val)	INPP5B (A51V)	Single nucleotide variant (5 prime UTR variant +3 more)	Dent disease type 2	GLikely pathogenic
Select item 548654	NM_000276.4(OCRL):c.187_199+449del	OCRL	Deletion (splice donor variant)	Dent disease type 2	GLikely pathogenic
Select item 383808	NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu)	OCRL (G347E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 279859	NM_000276.4(OCRL):c.940-11G>A	OCRL	Single nucleotide variant (intron variant)	Neurodevelopmental delay +3 more	GPathogenic/Likely pathogenic
Select item 208013	NG_008638.1:g.(5550_9683)_(13328_22050)del	OCRL	Deletion	Dent disease type 2	GPathogenic
Select item 208012	Single allele	OCRL	Deletion	Dent disease type 2	GPathogenic
Select item 92725	NM_000276.4(OCRL):c.439+3A>G	OCRL	Single nucleotide variant (intron variant)	Lowe syndrome +4 more	GBenign/Likely benign
Select item 68712	NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)	OCRL (R493W +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2	GPathogenic
Select item 68696	NM_000276.4(OCRL):c.1060A>C (p.Asn354His)	OCRL (N354H +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2	Gnot provided
Select item 29973	NM_000276.4(OCRL):c.167_168del (p.Ile56fs)	OCRL (I56fs +1 more)	Deletion (frameshift variant)	Dent disease type 2	GPathogenic
Select item 29972	NM_000276.4(OCRL):c.1598T>C (p.Ile533Thr)	OCRL (I533T +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2	GPathogenic
Select item 10861	NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)	OCRL (R318C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 10860	NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys)	OCRL (Y479C +1 more)	Single nucleotide variant (missense variant)	Dent disease type 2	GPathogenic
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

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Links from MedGen

Items: 57