ClinVar for MedGen (Select 96047) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443050	NM_001127898.4(CLCN5):c.1495T>C (p.Trp499Arg)	CLCN5 (W429R +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure +1 more	GUncertain significance
Select item 1805461	NM_001127898.4(CLCN5):c.1420G>A (p.Glu474Lys)	CLCN5 (E404K +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure	GUncertain significance
Select item 1599496	NM_001127898.4(CLCN5):c.2361-18A>G	CLCN5	Single nucleotide variant (intron variant)	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +4 more	GBenign/Likely benign
Select item 1444552	NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val)	CLCN5 (I443V +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure +4 more	GUncertain significance
Select item 1424968	NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val)	CLCN5, LOC126863258 (I660V +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1398755	NM_001127898.4(CLCN5):c.926G>A (p.Arg309His)	CLCN5 (R239H +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1343765	NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His)	CLCN5 (Q475H +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1334562	NM_001127898.4(CLCN5):c.1014+1G>A	CLCN5	Single nucleotide variant (splice donor variant)	Hypophosphatemic rickets, X-linked recessive +3 more	GLikely pathogenic
Select item 1086253	NM_001127898.4(CLCN5):c.796A>G (p.Ile266Val)	CLCN5 (I196V +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure +4 more	GLikely benign
Select item 1049202	NM_001127898.4(CLCN5):c.152G>A (p.Arg51Gln)	CLCN5 (R51Q)	Single nucleotide variant (missense variant)	Dent disease type 1 +3 more	GUncertain significance
Select item 1000916	NM_001127898.4(CLCN5):c.1297G>A (p.Val433Met)	CLCN5 (V363M +2 more)	Single nucleotide variant (missense variant)	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +4 more	GConflicting classifications of pathogenicity
Select item 988250	NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)	CLCN5 (S452fs +2 more)	Deletion (frameshift variant)	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +3 more	GLikely pathogenic
Select item 988249	NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)	CLCN5 (C221R +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1 +4 more	GLikely pathogenic
Select item 976286	NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser)	CLCN5, LOC126863258 (C711S +2 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, X-linked recessive +3 more	GUncertain significance
Select item 965079	NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met)	CLCN5, LOC126863258 (T683M +2 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, X-linked recessive +4 more	GUncertain significance
Select item 930899	NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala)	CLCN5, LOC126863258 (T683A +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure	GUncertain significance
Select item 914338	NM_001127898.4(CLCN5):c.1223G>A (p.Arg408His)	CLCN5 (R408H +2 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, X-linked recessive +4 more	GBenign/Likely benign
Select item 913212	NM_001127898.4(CLCN5):c.315+12G>A	CLCN5	Single nucleotide variant (intron variant)	X-linked recessive nephrolithiasis with renal failure +4 more	GBenign
Select item 844730	NM_001127898.4(CLCN5):c.448C>A (p.His150Asn)	CLCN5 (H100N +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 624416	NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala)	CLCN5, LOC126863258 (E734A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 499902	NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=)	CLCN5	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 488682	NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)	CLCN5 (R28* +2 more)	Single nucleotide variant (nonsense)	X-linked recessive nephrolithiasis with renal failure +4 more	GPathogenic/Likely pathogenic
Select item 438798	NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter)	CLCN5 (W559* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1 +3 more	GLikely pathogenic
Select item 368487	NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile)	LOC126863258, CLCN5 (V699I +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 368482	NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=)	CLCN5	Single nucleotide variant (synonymous variant)	Dent disease type 1 +4 more	GBenign/Likely 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
Select item 11806	NM_001127898.4(CLCN5):c.380G>T (p.Gly127Val)	CLCN5 (G57V +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure	GPathogenic
Select item 11802	NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)	CLCN5 (S244L +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 11801	NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu)	CLCN5 (G506E +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure	GPathogenic
Select item 11800	NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter)	CLCN5, LOC126863258 (R704* +2 more)	Single nucleotide variant (nonsense)	CLCN5-related condition +1 more	GConflicting classifications of pathogenicity

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Items: 30