ClinVar for MedGen (Select 168056) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1878394	NM_000276.4(OCRL):c.2582-1G>C	OCRL	Single nucleotide variant (splice acceptor variant)	Dent disease	GLikely pathogenic
Select item 1723236	NM_000276.4(OCRL):c.1580T>A (p.Val527Asp)	OCRL (V527D +1 more)	Single nucleotide variant (missense variant)	Dent disease	GLikely pathogenic
Select item 369638	NM_001127898.4(CLCN5):c.164-2333T>G	CLCN5	Single nucleotide variant (intron variant)	Dent disease	GLikely benign
Select item 368533	NM_001127898.4(CLCN5):c.*6275GTA[3]	CLCN5	Microsatellite (3 prime UTR variant)	Dent disease	GLikely benign
Select item 368530	NM_001127898.4(CLCN5):c.*6143C>T	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GLikely benign
Select item 368529	NM_001127898.4(CLCN5):c.*5956T>C	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GBenign
Select item 368527	NM_001127898.4(CLCN5):c.5899_5900del	CLCN5	Deletion (3 prime UTR variant)	Dent disease	GUncertain significance
Select item 368525	NM_001127898.4(CLCN5):c.*5349del	CLCN5	Deletion (3 prime UTR variant)	Dent disease	GUncertain significance
Select item 368517	NM_001127898.4(CLCN5):c.*3652T>C	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GBenign
Select item 368513	NM_001127898.4(CLCN5):c.*3255C>T	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GBenign
Select item 368509	NM_001127898.4(CLCN5):c.*2860T>C	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GBenign
Select item 368500	NM_001127898.4(CLCN5):c.*1723G>A	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GUncertain significance
Select item 368499	NM_001127898.4(CLCN5):c.1564_1567del	CLCN5	Deletion (3 prime UTR variant)	Dent disease	GUncertain significance
Select item 368498	NM_001127898.4(CLCN5):c.*1470C>T	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GLikely benign
Select item 368495	NM_001127898.4(CLCN5):c.*1160del	CLCN5	Deletion (3 prime UTR variant)	Dent disease	GUncertain significance
Select item 368494	NM_001127898.4(CLCN5):c.*969A>C	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GUncertain significance
Select item 368493	NM_001127898.4(CLCN5):c.*869A>G	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GLikely benign
Select item 368489	NM_001127898.4(CLCN5):c.403_406del	CLCN5	Deletion (3 prime UTR variant)	Dent disease	GLikely benign
Select item 368488	NM_001127898.4(CLCN5):c.*349G>A	CLCN5	Single nucleotide variant (3 prime UTR variant)	Dent disease	GLikely benign
Select item 368486	NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	Dent disease +2 more	GBenign
Select item 368484	NM_001127898.4(CLCN5):c.1558-14G>C	CLCN5	Single nucleotide variant (intron variant)	Dent disease +1 more	GBenign
Select item 368481	NM_001127898.4(CLCN5):c.1251A>G (p.Arg417=)	CLCN5	Single nucleotide variant (synonymous variant)	Dent disease	GLikely benign
Select item 368480	NM_001127898.4(CLCN5):c.1244G>A (p.Arg415Gln)	CLCN5 (R345Q +2 more)	Single nucleotide variant (missense variant)	Dent disease +1 more	GBenign/Likely benign
Select item 368470	NM_001127898.4(CLCN5):c.164-2301G>A	CLCN5	Single nucleotide variant (intron variant)	Dent disease	GLikely benign
Select item 207999	NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)	CLCN5, LOC126863258 (R637* +2 more)	Single nucleotide variant (nonsense)	Dent disease +5 more	GPathogenic

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Items: 25