"MVZ Medizinische Genetik Mainz"[submitter] AND "CLCN5"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066332	NM_001127898.4(CLCN5):c.505G>T (p.Glu169Ter)	CLCN5 (E119* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1	GLikely pathogenic
Select item 3338407	NM_001127898.4(CLCN5):c.850_851delinsAA (p.Leu284Lys)	CLCN5 (L214K +2 more)	Indel (missense variant)	Dent disease type 1	GUncertain significance
Select item 3256630	NM_001127898.4(CLCN5):c.906del (p.Lys301_Tyr302insTer)	CLCN5	Deletion (nonsense)	Dent disease type 1	GPathogenic
Select item 3235184	NM_001127898.4(CLCN5):c.950C>A (p.Ala317Glu)	CLCN5 (A247E +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GUncertain significance
Select item 3236145	NM_001127898.4(CLCN5):c.1191A>G (p.Ile397Met)	CLCN5 (I327M +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GUncertain significance
Select item 3068355	NM_001127898.4(CLCN5):c.1261C>T (p.Gln421Ter)	CLCN5 (Q351* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1	GLikely pathogenic
Select item 3066283	NM_001127898.4(CLCN5):c.1580del (p.Pro527fs)	CLCN5 (P457fs +2 more)	Deletion (frameshift variant)	Dent disease type 1	GLikely pathogenic
Select item 3236753	NM_001127898.4(CLCN5):c.1633C>T (p.Gln545Ter)	CLCN5 (Q475* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1	GLikely pathogenic
Select item 3256634	NM_001127898.4(CLCN5):c.1789G>T (p.Glu597Ter)	LOC126863258, CLCN5 (E527* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1	GLikely pathogenic
Select item 3234081	NM_001127898.4(CLCN5):c.1975C>T (p.Arg659Trp)	CLCN5, LOC126863258 (R589W +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GUncertain significance