ClinVar for MedGen (Select 387857) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382857	NM_001174089.2(SLC4A11):c.1423GAG[1] (p.Glu476del)	SLC4A11 (E438del +5 more)	Microsatellite (inframe_deletion +1 more)	Corneal dystrophy-perceptive deafness syndrome +2 more	GUncertain significance
Select item 3251962	NM_001174089.2(SLC4A11):c.2559-2A>G	SLC4A11	Single nucleotide variant (splice acceptor variant)	Congenital hereditary endothelial dystrophy of cornea	GLikely pathogenic
Select item 2583161	NM_001174089.2(SLC4A11):c.2450C>T (p.Thr817Met)	SLC4A11 (T779M +5 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea	GLikely pathogenic
Select item 1711857	NM_001174089.2(SLC4A11):c.1391G>T (p.Ser464Ile)	SLC4A11 (S426I +5 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea	GUncertain significance
Select item 1711856	NM_001174089.2(SLC4A11):c.2366dup (p.Ala790fs)	SLC4A11 (A752fs +5 more)	Duplication (frameshift variant +1 more)	Congenital hereditary endothelial dystrophy of cornea	GPathogenic
Select item 1711855	NM_001174089.2(SLC4A11):c.1418C>G (p.Ser473Trp)	SLC4A11 (S435W +5 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea	GPathogenic
Select item 1419680	NM_001174089.2(SLC4A11):c.671_672delinsTT (p.Trp224Phe)	SLC4A11 (W240F +2 more)	Indel (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1351232	NM_001174089.2(SLC4A11):c.671G>A (p.Trp224Ter)	SLC4A11 (W267* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1333285	NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)	SLC4A11 (R217C +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea +1 more	GConflicting classifications of pathogenicity
Select item 1333245	NM_001174089.2(SLC4A11):c.746C>T (p.Ala249Val)	SLC4A11 (A249V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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_001174089.1(SLC4A11):c.-111T>C	SLC4A11	Single nucleotide variant (intron variant)	Corneal dystrophy-perceptive deafness syndrome +2 more	GBenign
Select item 1184801	NM_001174089.2(SLC4A11):c.44-400C>G	SLC4A11 (P26R)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome +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 +2 more	GBenign
Select item 1184768	NM_001174089.2(SLC4A11):c.729+34G>A	SLC4A11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184767	NM_001174089.2(SLC4A11):c.729+140C>A	SLC4A11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184766	NM_001174089.2(SLC4A11):c.730-31T>C	SLC4A11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184765	NM_001174089.2(SLC4A11):c.730-29T>A	SLC4A11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184764	NM_001174089.2(SLC4A11):c.1415+97T>G	SLC4A11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184745	NM_001174089.2(SLC4A11):c.1489+141T>C	SLC4A11	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1068065	NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg)	SLC4A11 (G401R +2 more)	Single nucleotide variant (missense variant +2 more)	Congenital hereditary endothelial dystrophy of cornea +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 998092	NM_057088.3(KRT3):c.130_131delinsAC (p.Gly44Thr)	KRT3 (G44T)	Indel (missense variant)	Congenital hereditary endothelial dystrophy of cornea	GUncertain significance
Select item 993013	NM_001174089.2(SLC4A11):c.2018+1G>A	SLC4A11	Single nucleotide variant (splice donor variant)	Congenital hereditary endothelial dystrophy of cornea	GLikely pathogenic
Select item 962167	NM_001174089.2(SLC4A11):c.2140C>T (p.Arg714Ter)	SLC4A11 (R676* +3 more)	Single nucleotide variant (nonsense +1 more)	Corneal dystrophy-perceptive deafness syndrome +4 more	GPathogenic
Select item 899234	NM_001174089.2(SLC4A11):c.1634C>T (p.Thr545Met)	SLC4A11 (T561M +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome +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)	Corneal dystrophy, Fuchs endothelial, 4 +5 more	GConflicting classifications of pathogenicity
Select item 855486	NM_001174089.2(SLC4A11):c.2192+1G>A	SLC4A11	Single nucleotide variant (splice donor variant)	Congenital hereditary endothelial dystrophy of cornea +3 more	GPathogenic/Likely 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 666996	NM_001174089.2(SLC4A11):c.1110C>A (p.Cys370Ter)	SLC4A11 (C370* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital hereditary endothelial dystrophy of cornea +1 more	GPathogenic
Select item 649470	NM_001174089.2(SLC4A11):c.2215C>T (p.Arg739Trp)	SLC4A11 (R755W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 338263	NM_001174089.2(SLC4A11):c.44-121G>C	SLC4A11	Single nucleotide variant (5 prime UTR variant +1 more)	Corneal dystrophy +3 more	GBenign
Select item 338250	NM_001174089.2(SLC4A11):c.991C>T (p.Arg331Trp)	SLC4A11 (R331W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 338243	NM_001174089.2(SLC4A11):c.1862G>A (p.Arg621His)	SLC4A11 (R637H +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy +4 more	GUncertain significance
Select item 262002	NM_001174089.2(SLC4A11):c.591G>A (p.Ser197=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 262001	NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 261999	NM_001174089.2(SLC4A11):c.2389-9C>T	SLC4A11	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 261998	NM_001174089.2(SLC4A11):c.2193-18C>T	SLC4A11	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 261997	NM_001174089.2(SLC4A11):c.1611C>T (p.Asn537=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 261996	NM_001174089.2(SLC4A11):c.1341G>A (p.Thr447=)	SLC4A11	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 261995	NM_001174089.2(SLC4A11):c.89-8G>T	SLC4A11	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 261994	NM_001174089.2(SLC4A11):c.1283-11C>T	SLC4A11	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 261993	NM_001174089.2(SLC4A11):c.1043-15A>C	SLC4A11	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 225475	NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr)	SLC4A11 (A144T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 208613	NM_001174089.2(SLC4A11):c.425_433delinsC (p.Arg142fs)	SLC4A11 (R142fs +2 more)	Indel (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1316	NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)	SLC4A11 (L843P +3 more)	Single nucleotide variant (missense variant +1 more)	Corneal dystrophy-perceptive deafness syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1312	NM_001174089.2(SLC4A11):c.425_432del (p.Arg142fs)	SLC4A11 (R185fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1311	NM_001174089.2(SLC4A11):c.2558G>A (p.Arg853His)	SLC4A11 (R869H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1310	NM_001174089.2(SLC4A11):c.2019-16_2019-6delinsGGCCGGCCGG	SLC4A11	Indel (intron variant)	Congenital hereditary endothelial dystrophy of cornea	GPathogenic
Select item 1309	NM_001174089.2(SLC4A11):c.2557C>T (p.Arg853Cys)	SLC4A11 (R869C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1308	NM_001174089.2(SLC4A11):c.305_308del (p.Lys102fs)	SLC4A11 (K102fs +2 more)	Deletion (frameshift variant +1 more)	Congenital hereditary endothelial dystrophy of cornea	GPathogenic
Select item 1307	NM_001174089.2(SLC4A11):c.1765C>T (p.Arg589Ter)	SLC4A11 (R605* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1306	NM_001174089.2(SLC4A11):c.1343G>A (p.Gly448Asp)	SLC4A11 (G464D +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital hereditary endothelial dystrophy of cornea	GPathogenic
Select item 1305	NM_001174089.2(SLC4A11):c.1418C>T (p.Ser473Leu)	SLC4A11 (S489L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1304	NM_001174089.2(SLC4A11):c.2216G>A (p.Arg739Gln)	SLC4A11 (R755Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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Items: 59