ClinVar for Gene (Select 375611) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220401	NM_002803.4(PSMC2):c.187A>G (p.Thr63Ala)	PSMC2, SLC26A5 (T63A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220400	NM_002803.4(PSMC2):c.1031G>A (p.Ser344Asn)	PSMC2, SLC26A5 (S344N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163867	NM_198999.3(SLC26A5):c.930A>C (p.Lys310Asn)	SLC26A5 (K310N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163866	NM_198999.3(SLC26A5):c.517G>A (p.Ala173Thr)	SLC26A5 (A173T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163865	NM_198999.3(SLC26A5):c.2168A>G (p.Glu723Gly)	SLC26A5 (E723G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3163864	NM_198999.3(SLC26A5):c.1963G>A (p.Val655Ile)	SLC26A5 (V655I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3163863	NM_198999.3(SLC26A5):c.1789G>A (p.Ala597Thr)	SLC26A5 (A597T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3163862	NM_198999.3(SLC26A5):c.1768G>A (p.Ala590Thr)	SLC26A5 (A558T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3163860	NM_198999.3(SLC26A5):c.104A>G (p.Lys35Arg)	SLC26A5 (K35R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050724	NM_198999.3(SLC26A5):c.571-4del	SLC26A5	Deletion (intron variant)	SLC26A5-related condition	GLikely benign
Select item 3048824	NM_198999.3(SLC26A5):c.471C>T (p.Val157=)	SLC26A5	Single nucleotide variant (synonymous variant +1 more)	SLC26A5-related condition	GLikely benign
Select item 3045758	NM_198999.3(SLC26A5):c.1214G>A (p.Gly405Glu)	SLC26A5 (G405E)	Single nucleotide variant (missense variant +2 more)	SLC26A5-related condition	GLikely benign
Select item 3020090	NM_198999.3(SLC26A5):c.571-18G>T	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009269	NM_198999.3(SLC26A5):c.1119+15T>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001037	NM_198999.3(SLC26A5):c.152+20G>T	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000237	NM_198999.3(SLC26A5):c.726C>T (p.Ser242=)	SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998819	NM_198999.3(SLC26A5):c.1110C>T (p.Asp370=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2998324	NM_198999.3(SLC26A5):c.329dup (p.Phe111fs)	SLC26A5 (F111fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2985580	NM_198999.3(SLC26A5):c.1120-11A>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981577	NM_198999.3(SLC26A5):c.1408-13G>A	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972124	NM_198999.3(SLC26A5):c.960A>C (p.Thr320=)	SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2970613	NM_198999.3(SLC26A5):c.51T>G (p.Tyr17Ter)	SLC26A5 (Y17*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2965342	NM_198999.3(SLC26A5):c.1311+20G>A	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962904	NM_198999.3(SLC26A5):c.876A>G (p.Leu292=)	SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961007	NM_198999.3(SLC26A5):c.1915G>A (p.Val639Ile)	SLC26A5 (V639I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2907528	NM_198999.3(SLC26A5):c.672C>T (p.Ser224=)	SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2906766	NM_198999.3(SLC26A5):c.891C>T (p.Val297=)	SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890185	NM_198999.3(SLC26A5):c.448C>T (p.Arg150Ter)	SLC26A5 (R150*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2890165	NM_198999.3(SLC26A5):c.2010C>T (p.Val670=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2857928	NM_198999.3(SLC26A5):c.1515-1G>A	SLC26A5	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2806235	NM_198999.3(SLC26A5):c.1312-1G>A	SLC26A5	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2796760	NM_198999.3(SLC26A5):c.2122del (p.Asp708fs)	SLC26A5 (D676fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2794800	NM_198999.3(SLC26A5):c.818T>A (p.Leu273Ter)	SLC26A5 (L273*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2766139	NM_198999.3(SLC26A5):c.1812T>C (p.Ala604=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2762194	NM_198999.3(SLC26A5):c.108_109del (p.Asp36fs)	SLC26A5 (D36fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2747819	NM_198999.3(SLC26A5):c.1986+1G>A	SLC26A5	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2684499	GRCh37/hg19 7q22.1(chr7:102668567-103242665)x3	ARMC10, DNAJC2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2682989	NM_198999.3(SLC26A5):c.706C>T (p.Arg236Trp)	SLC26A5 (R236W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682987	NM_198999.3(SLC26A5):c.2065C>T (p.Arg689Trp)	SLC26A5 (R657W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2657888	NM_002803.4(PSMC2):c.1192A>C (p.Arg398=)	PSMC2, SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657887	NM_002803.4(PSMC2):c.501A>G (p.Glu167=)	PSMC2, SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614392	NM_198999.3(SLC26A5):c.1355T>G (p.Phe452Cys)	SLC26A5 (F452C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2608998	NM_198999.3(SLC26A5):c.475C>T (p.Pro159Ser)	SLC26A5 (P159S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602280	NM_198999.3(SLC26A5):c.887C>T (p.Ala296Val)	SLC26A5 (A296V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601761	NM_198999.3(SLC26A5):c.1111G>A (p.Gly371Ser)	SLC26A5 (G371S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2572203	NM_002803.4(PSMC2):c.325C>T (p.Pro109Ser)	PSMC2, SLC26A5 (P109S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2542908	NM_198999.3(SLC26A5):c.2110C>T (p.His704Tyr)	SLC26A5 (H672Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2538781	NM_002803.4(PSMC2):c.154A>T (p.Ile52Phe)	PSMC2, SLC26A5 (I52F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507879	NM_198999.3(SLC26A5):c.1712G>C (p.Arg571Thr)	SLC26A5 (R539T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2505543	NM_198999.3(SLC26A5):c.2146del (p.Arg716fs)	SLC26A5 (R684fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61	GLikely pathogenic
Select item 2482808	NM_198999.3(SLC26A5):c.2221A>G (p.Thr741Ala)	SLC26A5 (T741A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2469203	NM_198999.3(SLC26A5):c.1399A>G (p.Ile467Val)	SLC26A5 (I467V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2436007	NM_198999.3(SLC26A5):c.1936T>C (p.Phe646Leu)	SLC26A5 (F614L +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61	GUncertain significance
Select item 2427609	NC_000007.13:g.(?_102937907)_(107643330_?)dup	ATXN7L1, BCAP29 +26 more	Duplication	not provided	GUncertain significance
Select item 2400012	NM_198999.3(SLC26A5):c.892G>A (p.Val298Ile)	SLC26A5 (V298I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389998	NM_198999.3(SLC26A5):c.518C>G (p.Ala173Gly)	SLC26A5 (A173G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383562	NM_002803.4(PSMC2):c.119C>G (p.Thr40Ser)	PSMC2, SLC26A5 (T40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375652	NM_198999.3(SLC26A5):c.1441T>C (p.Phe481Leu)	SLC26A5 (F449L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2368081	NM_198999.3(SLC26A5):c.2008G>A (p.Val670Ile)	SLC26A5 (V638I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2336738	NM_198999.3(SLC26A5):c.2225C>T (p.Pro742Leu)	SLC26A5 (P710L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2325811	NM_198999.3(SLC26A5):c.1441T>A (p.Phe481Ile)	SLC26A5 (F449I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2302668	NM_198999.3(SLC26A5):c.1244G>A (p.Cys415Tyr)	SLC26A5 (C415Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2274274	NM_002803.4(PSMC2):c.302T>C (p.Ile101Thr)	PSMC2, SLC26A5 (I101T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272442	NM_198999.3(SLC26A5):c.1104G>T (p.Gln368His)	SLC26A5 (Q368H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2237300	NM_198999.3(SLC26A5):c.1784C>A (p.Ala595Glu)	SLC26A5 (A563E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2234900	NM_198999.3(SLC26A5):c.1653G>T (p.Leu551Phe)	SLC26A5 (L551F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230798	NM_198999.3(SLC26A5):c.1871C>G (p.Thr624Arg)	SLC26A5 (T592R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2192503	NM_198999.3(SLC26A5):c.642C>T (p.Thr214=)	SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188644	NM_198999.3(SLC26A5):c.1905A>G (p.Pro635=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2180539	NM_198999.3(SLC26A5):c.646G>A (p.Ala216Thr)	SLC26A5 (A216T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171677	NM_198999.3(SLC26A5):c.1218C>T (p.Thr406=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2162816	NM_198999.3(SLC26A5):c.993G>A (p.Pro331=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2159446	NM_198999.3(SLC26A5):c.1322C>T (p.Ser441Leu)	SLC26A5 (S441L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2133200	NM_198999.3(SLC26A5):c.1349G>A (p.Gly450Glu)	SLC26A5 (G450E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2128169	NM_198999.3(SLC26A5):c.1678-12T>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118066	NM_198999.3(SLC26A5):c.270A>C (p.Thr90=)	SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2112249	NM_198999.3(SLC26A5):c.1904dup (p.Gly636fs)	SLC26A5 (G604fs +1 more)	Duplication (non-coding transcript variant +2 more)	not provided	GPathogenic
Select item 2111897	NM_198999.3(SLC26A5):c.467T>C (p.Ile156Thr)	SLC26A5 (I156T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2100569	NM_198999.3(SLC26A5):c.2161G>A (p.Glu721Lys)	SLC26A5 (E689K +1 more)	Single nucleotide variant (intron variant +2 more)	not provided	GUncertain significance
Select item 2078813	NM_198999.3(SLC26A5):c.1044C>T (p.Ile348=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2041697	NM_198999.3(SLC26A5):c.888+14G>T	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2027408	NM_198999.3(SLC26A5):c.403G>A (p.Gly135Ser)	SLC26A5 (G135S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2027407	NM_198999.3(SLC26A5):c.404-1G>C	SLC26A5	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2020423	NM_198999.3(SLC26A5):c.855del (p.Lys285fs)	SLC26A5 (K285fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1986203	NM_198999.3(SLC26A5):c.1219G>A (p.Gly407Ser)	SLC26A5 (G407S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1984833	NM_198999.3(SLC26A5):c.1986+3A>T	SLC26A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1967480	NM_198999.3(SLC26A5):c.293G>C (p.Gly98Ala)	SLC26A5 (G98A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1949961	NM_198999.3(SLC26A5):c.723T>C (p.Phe241=)	SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1935083	NM_198999.3(SLC26A5):c.1584+16A>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903524	NM_198999.3(SLC26A5):c.2041+19T>A	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902309	NM_198999.3(SLC26A5):c.27C>G (p.Ile9Met)	SLC26A5 (I9M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807231	NM_198999.3(SLC26A5):c.790G>A (p.Val264Ile)	SLC26A5 (V264I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1674927	NM_198999.3(SLC26A5):c.1170C>G (p.Thr390=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1662302	NM_198999.3(SLC26A5):c.152+11T>C	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646232	NM_198999.3(SLC26A5):c.2121T>C (p.His707=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1636076	NM_198999.3(SLC26A5):c.571-16C>T	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634207	NM_198999.3(SLC26A5):c.2041+15A>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633767	NM_198999.3(SLC26A5):c.1311+13T>C	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign

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