ClinVar for MedGen (Select 923000) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358993	NM_001830.4(CLCN4):c.1684G>C (p.Val562Leu)	CLCN4 (V468L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 3235813	NM_001830.4(CLCN4):c.980G>A (p.Trp327Ter)	CLCN4 (W233* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 49	GPathogenic
Select item 3024323	NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val)	CLCN4 (E447V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 3024251	NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)	CLCN4 (G450E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GPathogenic
Select item 2585539	NM_001830.4(CLCN4):c.1436C>T (p.Ala479Val)	CLCN4 (A385V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 2440132	NM_001830.4(CLCN4):c.1360G>A (p.Val454Ile)	CLCN4 (V360I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 2440131	NM_001830.4(CLCN4):c.1680G>C (p.Lys560Asn)	CLCN4 (K466N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 2440130	NM_001830.4(CLCN4):c.209G>T (p.Gly70Val)	CLCN4 (G70V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1805903	NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro)	CLCN4 (L211P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
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 1691397	NM_001830.4(CLCN4):c.1597G>A (p.Val533Met)	CLCN4 (V439M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +1 more	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 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 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 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 1684626	NM_001830.4(CLCN4):c.1439G>T (p.Gly480Val)	CLCN4 (G386V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1679299	NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter)	CLCN4 (E38*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 49	GPathogenic
Select item 1665217	NM_001830.4(CLCN4):c.1175A>G (p.Gln392Arg)	CLCN4 (Q298R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1360558	NM_001830.4(CLCN4):c.1820C>T (p.Pro607Leu)	CLCN4 (P513L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1339128	NM_001830.4(CLCN4):c.1849A>G (p.Met617Val)	CLCN4 (M523V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
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 1321251	NM_001830.4(CLCN4):c.1909G>C (p.Val637Leu)	CLCN4 (V543L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1320175	NM_001830.4(CLCN4):c.740dup (p.Asn248fs)	CLCN4 (N154fs +1 more)	Duplication (frameshift variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 1297055	NM_001830.4(CLCN4):c.2102C>T (p.Pro701Leu)	CLCN4 (P607L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1219913	NM_001830.4(CLCN4):c.652G>A (p.Gly218Ser)	CLCN4 (G124S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1192185	NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp)	CLCN4 (G573D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +1 more	GUncertain significance
Select item 1164025	NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter)	CLCN4 (W198* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 49	GPathogenic
Select item 1030482	NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr)	CLCN4 (A427T +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)	not provided +1 more	GUncertain significance
Select item 996971	NM_001830.4(CLCN4):c.944G>A (p.Arg315His)	CLCN4 (R221H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +1 more	GConflicting classifications of pathogenicity
Select item 992811	NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr)	CLCN4 (P586T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +2 more	GUncertain significance
Select item 988775	NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro)	CLCN4 (L307P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 988758	NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)	CLCN4 (D44N)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 983535	NM_001830.4(CLCN4):c.832del (p.Ser278fs)	CLCN4 (S184fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 982984	NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu)	CLCN4 (I157L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +1 more	GUncertain significance
Select item 976472	NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr)	CLCN4 (I455T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 976142	NM_001830.4(CLCN4):c.373del (p.Asp125fs)	CLCN4 (D125fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 964595	NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp)	CLCN4 (R629W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 853173	NM_001830.4(CLCN4):c.11C>T (p.Ala4Val)	CLCN4 (A4V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49 +1 more	GUncertain significance
Select item 851391	NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr)	CLCN4 (I574T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +1 more	GUncertain significance
Select item 827824	NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu)	CLCN4 (P590L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 807385	NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser)	CLCN4 (G467S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +1 more	GLikely pathogenic
Select item 696562	NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met)	CLCN4 (T677M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 659757	NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys)	CLCN4 (R360C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +1 more	GConflicting classifications of pathogenicity
Select item 658669	NM_001830.4(CLCN4):c.1051C>G (p.Arg351Gly)	CLCN4 (R257G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 625920	NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser)	CLCN4 (A4S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49 +1 more	GUncertain significance
Select item 521940	NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln)	CLCN4 (R718Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 495273	NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser)	CLCN4 (G526S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 489100	NM_001830.4(CLCN4):c.1A>G (p.Met1Val)	CLCN4 (M1V)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, X-linked 49 +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 253116	NM_001830.4(CLCN4):c.1606G>A (p.Val536Met)	CLCN4 (V536M +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GPathogenic
Select item 253115	NM_001830.4(CLCN4):c.661C>G (p.Leu221Val)	CLCN4 (L221V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GPathogenic
Select item 253114	NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser)	CLCN4 (G78S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253113	NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg)	CLCN4 (G731R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GPathogenic
Select item 253112	NM_001830.4(CLCN4):c.43_55del (p.Asp15fs)	CLCN4 (D15fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 49	GPathogenic
Select item 210732	NM_001830.4(CLCN4):c.1758G>A (p.Val586=)	CLCN4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 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 100781	NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg)	CLCN4 (G544R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 78