"Gene2Care/ Palmer Lab, University of New South Wales"[submitter] AND - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691407	NM_001830.4(CLCN4):c.87C>G (p.Asp29Glu)	CLCN4 (D29E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691405	NM_001830.4(CLCN4):c.100G>A (p.Asp34Asn)	CLCN4 (D34N)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691393	NM_001830.4(CLCN4):c.185A>G (p.Lys62Arg)	CLCN4 (K62R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691406	NM_001830.4(CLCN4):c.206C>T (p.Ser69Leu)	CLCN4 (S69L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1691402	NM_001830.4(CLCN4):c.608C>T (p.Thr203Ile)	CLCN4 (T109I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 1691410	NM_001830.4(CLCN4):c.677C>T (p.Pro226Leu)	CLCN4 (P132L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691413	NM_001830.4(CLCN4):c.823G>C (p.Val275Leu)	CLCN4 (V181L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1691414	NM_001830.4(CLCN4):c.826C>T (p.Leu276Phe)	CLCN4 (L182F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691415	NM_001830.4(CLCN4):c.835C>G (p.Leu279Val)	CLCN4 (L185V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 1691416	NM_001830.4(CLCN4):c.840A>T (p.Glu280Asp)	CLCN4 (E186D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 1691417	NM_001830.4(CLCN4):c.848G>A (p.Ser283Asn)	CLCN4 (S189N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691411	NM_001830.4(CLCN4):c.925_928del (p.Asn309fs)	CLCN4 (N215fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 49	GPathogenic
Select item 1327675	NM_001830.4(CLCN4):c.926A>G (p.Asn309Ser)	CLCN4 (N215S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1691400	NM_001830.4(CLCN4):c.928C>T (p.Pro310Ser)	CLCN4 (P216S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 996971	NM_001830.4(CLCN4):c.944G>A (p.Arg315His)	CLCN4 (R221H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 422822	NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)	CLCN4 (V317I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1691394	NM_001830.4(CLCN4):c.956T>C (p.Phe319Ser)	CLCN4 (F225S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691395	NM_001830.4(CLCN4):c.1025G>A (p.Gly342Glu)	CLCN4 (G248E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691396	NM_001830.4(CLCN4):c.1078C>A (p.Arg360Ser)	CLCN4 (R266S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691408	NM_001830.4(CLCN4):c.1090A>G (p.Arg364Gly)	CLCN4 (R270G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1013891	NM_001830.4(CLCN4):c.1106C>T (p.Pro369Leu)	CLCN4 (P275L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +1 more	GUncertain significance
Select item 1691401	NM_001830.4(CLCN4):c.1185C>G (p.Ser395Arg)	CLCN4 (S301R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691397	NM_001830.4(CLCN4):c.1597G>A (p.Val533Met)	CLCN4 (V439M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1691403	NM_001830.4(CLCN4):c.1646T>A (p.Ile549Asn)	CLCN4 (I455N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691404	NM_001830.4(CLCN4):c.1648G>C (p.Val550Leu)	CLCN4 (V456L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 209115	NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val)	CLCN4 (A555V +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder +2 more	GPathogenic
Select item 1691409	NM_001830.4(CLCN4):c.1886C>T (p.Thr629Ile)	CLCN4 (T535I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691398	NM_001830.4(CLCN4):c.1904C>G (p.Pro635Arg)	CLCN4 (P541R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691412	NM_001830.4(CLCN4):c.1987_1990del (p.Gln663fs)	CLCN4 (Q569fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 209116	NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)	CLCN4 (R718W +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder +2 more	GPathogenic
Select item 1691399	NM_001830.4(CLCN4):c.2192G>T (p.Gly731Val)	CLCN4 (G637V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31