ClinVar for MedGen (Select 387858) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573626	NM_001174089.2(SLC4A11):c.590C>T (p.Ser197Leu)	SLC4A11 (S178L +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome	GPathogenic
Select item 2501267	NM_001174089.2(SLC4A11):c.93C>G (p.Tyr31Ter)	SLC4A11 (Y12* +3 more)	Single nucleotide variant (nonsense +1 more)	Corneal dystrophy-perceptive deafness syndrome	GLikely pathogenic
Select item 1705079	NM_001174089.2(SLC4A11):c.44-91A>G	SLC4A11 (M1V)	Single nucleotide variant (missense variant +3 more)	Corneal dystrophy-perceptive deafness syndrome	GLikely pathogenic
Select item 1499910	NM_001174089.2(SLC4A11):c.758C>T (p.Ala253Val)	SLC4A11 (A269V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1454589	NM_001174089.2(SLC4A11):c.575del (p.Val192fs)	SLC4A11 (V192fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1453845	NM_001174089.2(SLC4A11):c.1282+1G>A	SLC4A11	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1419680	NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)	SLC4A11 (W240F +2 more)	Indel (missense variant +1 more)	Corneal dystrophy, Fuchs endothelial, 4 +3 more	GUncertain significance
Select item 1356826	NM_001174089.2(SLC4A11):c.2185_2192dup (p.Ile732fs)	SLC4A11 (I694fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1333285	NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)	SLC4A11 (R217C +2 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1333153	NM_001174089.2(SLC4A11):c.730-29_730-28insC	SLC4A11	Insertion (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184802	NM_001400277.1(SLC4A11):c.-15+100T>C	SLC4A11	Single nucleotide variant (intron variant)	Congenital hereditary endothelial dystrophy of cornea +1 more	GBenign
Select item 1184801	NM_001174089.2(SLC4A11):c.44-400C>G	SLC4A11 (P26R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1184787	NM_001174089.2(SLC4A11):c.88+189G>A	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184786	NM_001174089.2(SLC4A11):c.88+201A>C	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184785	NM_001174089.2(SLC4A11):c.291+126G>A	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184784	NM_001174089.2(SLC4A11):c.292-86G>C	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184768	NM_001174089.2(SLC4A11):c.729+34G>A	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184767	NM_001174089.2(SLC4A11):c.729+140C>A	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184766	NM_001174089.2(SLC4A11):c.730-31T>C	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184765	NM_001174089.2(SLC4A11):c.730-29T>A	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184764	NM_001174089.2(SLC4A11):c.1415+97T>G	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184745	NM_001174089.2(SLC4A11):c.1489+141T>C	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +1 more	GBenign
Select item 1184523	NM_001174089.2(SLC4A11):c.1658C>A (p.Ser553Ter)	SLC4A11 (S515* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1157545	NM_001174089.2(SLC4A11):c.117C>T (p.Thr39=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1152356	NM_001174089.2(SLC4A11):c.1575C>T (p.Gly525=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1143034	NM_001174089.2(SLC4A11):c.2389-8G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1131496	NM_001174089.2(SLC4A11):c.495C>T (p.Thr165=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	SLC4A11-related condition +1 more	GLikely benign
Select item 1129972	NM_001174089.2(SLC4A11):c.1623C>T (p.Leu541=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1121351	NM_001174089.2(SLC4A11):c.2277G>A (p.Pro759=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1107049	NM_001174089.2(SLC4A11):c.1707C>G (p.Leu569=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1105651	NM_001174089.2(SLC4A11):c.2136C>T (p.His712=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1102727	NM_001174089.2(SLC4A11):c.1992C>T (p.Ala664=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1069511	NM_001174089.2(SLC4A11):c.286C>T (p.Arg96Ter)	SLC4A11 (R112* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1068065	NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg)	SLC4A11 (G401R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely pathogenic
Select item 1068022	NM_001174089.2(SLC4A11):c.379G>A (p.Glu127Lys)	SLC4A11 (E127K +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea +1 more	GConflicting classifications of pathogenicity
Select item 1068021	NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)	SLC4A11 (G401R +2 more)	Single nucleotide variant (missense variant +2 more)	Corneal dystrophy-perceptive deafness syndrome +3 more	GLikely pathogenic
Select item 991696	NM_001174089.2(SLC4A11):c.390C>T (p.Thr130=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 991695	NM_001174089.2(SLC4A11):c.1782C>T (p.Asp594=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy-perceptive deafness syndrome	GUncertain significance
Select item 962167	NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)	SLC4A11 (R676* +3 more)	Single nucleotide variant (nonsense +1 more)	SLC4A11-related condition +4 more	GPathogenic
Select item 958954	NM_001174089.2(SLC4A11):c.570_571del (p.Val192fs)	SLC4A11 (V192fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 938824	NM_001174089.2(SLC4A11):c.1416-1G>C	SLC4A11	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 899234	NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)	SLC4A11 (T561M +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea +3 more	GUncertain significance
Select item 898123	NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr)	SLC4A11 (A565T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 895052	NM_001174089.2(SLC4A11):c.2340C>T (p.Leu780=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 855486	NM_001174089.2(SLC4A11):c.2192+1G>A	SLC4A11	Single nucleotide variant (splice donor variant)	Corneal dystrophy-perceptive deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 854242	NM_001174089.2(SLC4A11):c.1490-2A>G	SLC4A11	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 805462	NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)	SLC4A11 (G742R +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +4 more	GUncertain significance
Select item 805460	NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr)	SLC4A11 (I350T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 798365	NM_001174089.2(SLC4A11):c.330G>A (p.Ala110=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 795483	NM_001174089.2(SLC4A11):c.1911G>A (p.Leu637=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 794619	NM_001174089.2(SLC4A11):c.2331C>A (p.Leu777=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 794401	NM_001174089.2(SLC4A11):c.1578C>T (p.Ala526=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 794083	NM_001174089.2(SLC4A11):c.1524C>T (p.Asp508=)	SLC4A11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793944	NM_001174089.2(SLC4A11):c.1926C>T (p.Val642=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 793245	NM_001174089.2(SLC4A11):c.44-73C>T	SLC4A11 (R7W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 792243	NM_001174089.2(SLC4A11):c.44-35C>T	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 788622	NM_001174089.2(SLC4A11):c.1131C>T (p.Phe377=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 786674	NM_001174089.2(SLC4A11):c.426C>T (p.Arg142=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 782168	NM_001174089.2(SLC4A11):c.1043-10C>T	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 781542	NM_001174089.2(SLC4A11):c.2292C>T (p.Pro764=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778876	NM_001174089.2(SLC4A11):c.1722C>G (p.Thr574=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 773367	NM_001174089.2(SLC4A11):c.401A>G (p.Asn134Ser)	SLC4A11 (N134S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 769068	NM_001174089.2(SLC4A11):c.2018+7A>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 769067	NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)	SLC4A11 (M848I +3 more)	Single nucleotide variant (missense variant +1 more)	Posterior polymorphous corneal dystrophy 1 +4 more	GConflicting classifications of pathogenicity
Select item 769066	NM_001174089.2(SLC4A11):c.2610C>T (p.Asp870=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 766614	NM_001174089.2(SLC4A11):c.2073C>T (p.Asn691=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 766181	NM_001174089.2(SLC4A11):c.2232C>T (p.Gly744=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 766014	NM_001174089.2(SLC4A11):c.897G>A (p.Pro299=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 765464	NM_001174089.2(SLC4A11):c.1503C>T (p.Tyr501=)	SLC4A11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 763833	NM_001174089.2(SLC4A11):c.1704G>A (p.Thr568=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 762364	NM_001174089.2(SLC4A11):c.1323C>T (p.Asn441=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 758627	NM_001174089.2(SLC4A11):c.735C>T (p.Ser245=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 757358	NM_001174089.2(SLC4A11):c.1368G>A (p.Ala456=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 754836	NM_001174089.2(SLC4A11):c.2184C>T (p.Ile728=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 754592	NM_001174089.2(SLC4A11):c.1188C>T (p.Ala396=)	SLC4A11	Single nucleotide variant (synonymous variant +2 more)	SLC4A11-related condition +1 more	GLikely benign
Select item 754098	NM_001174089.2(SLC4A11):c.1002C>T (p.Ile334=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 753817	NM_001174089.2(SLC4A11):c.2175C>T (p.Asn725=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 752966	NM_001174089.2(SLC4A11):c.1671C>T (p.Thr557=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751783	NM_001174089.2(SLC4A11):c.2238C>T (p.Ser746=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751623	NM_001174089.2(SLC4A11):c.1158C>T (p.Asp386=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751304	NM_001174089.2(SLC4A11):c.633G>A (p.Arg211=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751053	NM_001174089.2(SLC4A11):c.2559-5C>T	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 750916	NM_001174089.2(SLC4A11):c.882C>T (p.His294=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 747946	NM_001174089.2(SLC4A11):c.1959C>A (p.Ser653=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 743250	NM_001174089.2(SLC4A11):c.2388+7G>A	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 741445	NM_001174089.2(SLC4A11):c.78C>T (p.Phe26=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 741164	NM_001174089.2(SLC4A11):c.501C>T (p.Ala167=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 739183	NM_001174089.2(SLC4A11):c.1020G>A (p.Leu340=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 739145	NM_001174089.2(SLC4A11):c.2253G>C (p.Leu751=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738272	NM_001174089.2(SLC4A11):c.903G>A (p.Thr301=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 737995	NM_001174089.2(SLC4A11):c.242-5G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 736308	NM_001174089.2(SLC4A11):c.44-8C>G	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 734650	NM_001174089.2(SLC4A11):c.384G>A (p.Thr128=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731854	NM_001174089.2(SLC4A11):c.1785C>T (p.Cys595=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 729476	NM_001174089.2(SLC4A11):c.789C>T (p.Ile263=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 729214	NM_001174089.2(SLC4A11):c.1779C>T (p.Ser593=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 728904	NM_001174089.2(SLC4A11):c.2061C>T (p.Leu687=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	Corneal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 728586	NM_001174089.2(SLC4A11):c.1168+10T>G	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727622	NM_001174089.2(SLC4A11):c.729+10T>C	SLC4A11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727037	NM_001174089.2(SLC4A11):c.1890G>A (p.Ala630=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign

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