375611[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 144348	GRCh38/hg38 7q22.1(chr7:103326703-103763175)x1	DNAJC2, LOC121175357 +11 more	Copy number loss	See cases	GUncertain significance
Select item 1249575	NC_000007.14:g.103352579A>G	PSMC2, SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249288	NC_000007.14:g.103352638C>T	PSMC2, SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194585	NC_000007.14:g.103352648G>T	PSMC2, SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 1311746	NM_206883.3(SLC26A5):c.2042-9101dup	SLC26A5, PSMC2 (V122fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2657887	NM_206883.3(SLC26A5):c.2042-10423T>C	PSMC2, SLC26A5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 992332	NM_002803.4(PSMC2):c.751G>T (p.Gly251Cys)	PSMC2, SLC26A5 (G251C)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 3310973	NM_002803.4(PSMC2):c.1234G>T (p.Ala412Ser)	PSMC2, SLC26A5 (A412S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1290192	NM_206883.3(SLC26A5):c.2041+2675T>C	SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190411	NM_206883.3(SLC26A5):c.2041+2628G>T	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195713	NM_198999.3(SLC26A5):c.*28A>G	SLC26A5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1328626	NM_198999.3(SLC26A5):c.*2T>A	SLC26A5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
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 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 1373410	NM_198999.3(SLC26A5):c.2212A>T (p.Thr738Ser)	SLC26A5 (T738S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1353027	NM_198999.3(SLC26A5):c.2206A>C (p.Asn736His)	SLC26A5 (N736H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1252870	NM_198999.3(SLC26A5):c.2184T>G (p.Pro728=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 1300471	NM_198999.3(SLC26A5):c.2177C>T (p.Ala726Val)	SLC26A5 (A726V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 754373	NM_198999.3(SLC26A5):c.2175G>A (p.Ser725=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2100569	NM_198999.3(SLC26A5):c.2161G>A (p.Glu721Lys)	SLC26A5 (E689K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 2796760	NM_198999.3(SLC26A5):c.2122del (p.Asp708fs)	SLC26A5 (D676fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
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 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 1198149	NM_198999.3(SLC26A5):c.2079T>C (p.Phe693=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 499504	NM_198999.3(SLC26A5):c.2067G>T (p.Arg689=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 358345	NM_198999.3(SLC26A5):c.2066G>A (p.Arg689Gln)	SLC26A5 (R689Q +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61 +1 more	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 726195	NM_198999.3(SLC26A5):c.2042-5A>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1282098	NM_198999.3(SLC26A5):c.2042-95dup	SLC26A5	Duplication (intron variant)	not provided	GBenign
Select item 1246908	NM_198999.3(SLC26A5):c.2042-85del	SLC26A5	Deletion (intron variant)	not provided	GBenign
Select item 1186835	NM_198999.3(SLC26A5):c.2042-125dup	SLC26A5	Duplication (intron variant)	not provided	GLikely benign
Select item 1232174	NM_198999.3(SLC26A5):c.2041+232G>A	SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287837	NM_198999.3(SLC26A5):c.2041+120_2041+122del	SLC26A5	Microsatellite (intron variant)	not provided	GBenign
Select item 1269285	NM_198999.3(SLC26A5):c.2041+107T>C	SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1903524	NM_198999.3(SLC26A5):c.2041+19T>A	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 263206	NM_198999.3(SLC26A5):c.2019T>C (p.Tyr673=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 2890165	NM_198999.3(SLC26A5):c.2010C>T (p.Val670=)	SLC26A5	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1595124	NM_198999.3(SLC26A5):c.2010C>A (p.Val670=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1480283	NM_198999.3(SLC26A5):c.2000A>G (p.Tyr667Cys)	SLC26A5 (Y667C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1235817	NM_198999.3(SLC26A5):c.1986+30T>C	SLC26A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1984833	NM_198999.3(SLC26A5):c.1986+3A>T	SLC26A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 499490	NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His)	SLC26A5 (Q648H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1504897	NM_198999.3(SLC26A5):c.1939A>G (p.Thr647Ala)	SLC26A5 (T647A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 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 1394079	NM_198999.3(SLC26A5):c.1907G>A (p.Gly636Glu)	SLC26A5 (G636E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 2112249	NM_198999.3(SLC26A5):c.1904dup (p.Gly636fs)	SLC26A5 (G604fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 3319320	NM_198999.3(SLC26A5):c.1871C>T (p.Thr624Ile)	SLC26A5 (T624I +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 1103716	NM_198999.3(SLC26A5):c.1849C>T (p.Pro617Ser)	SLC26A5 (P585S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 501578	NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys)	SLC26A5 (E610K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 48337	NM_198999.3(SLC26A5):c.1813A>G (p.Thr605Ala)	SLC26A5 (T605A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
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 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 1197251	NM_198999.3(SLC26A5):c.1786-232A>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1545966	NM_198999.3(SLC26A5):c.1746C>T (p.Val582=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1427362	NM_198999.3(SLC26A5):c.1735G>A (p.Ala579Thr)	SLC26A5 (A579T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1619763	NM_198999.3(SLC26A5):c.1734C>T (p.Tyr578=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 358347	NM_198999.3(SLC26A5):c.1699A>G (p.Ile567Val)	SLC26A5 (I567V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2128169	NM_198999.3(SLC26A5):c.1678-12T>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248135	NM_198999.3(SLC26A5):c.1678-323G>C	SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174332	NM_198999.3(SLC26A5):c.1677+77T>C	SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 618881	NM_198999.3(SLC26A5):c.1658G>A (p.Ser553Asn)	SLC26A5 (S553N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 3319318	NM_198999.3(SLC26A5):c.1616A>G (p.Gln539Arg)	SLC26A5 (Q507R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 358350	NM_198999.3(SLC26A5):c.1590A>G (p.Lys530=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1273264	NM_198999.3(SLC26A5):c.1585-163dup	SLC26A5	Duplication (intron variant)	not provided	GBenign
Select item 1935083	NM_198999.3(SLC26A5):c.1584+16A>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1405505	NM_198999.3(SLC26A5):c.1572_1580del (p.Asp524_Tyr526del)	SLC26A5	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 179063	NM_198999.3(SLC26A5):c.1572C>T (p.Asp524=)	SLC26A5	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 1426250	NM_198999.3(SLC26A5):c.1555G>A (p.Val519Met)	SLC26A5 (V519M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3250440	NM_198999.3(SLC26A5):c.1539G>T (p.Lys513Asn)	SLC26A5 (K481N +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive nonsyndromic hearing loss 61 +1 more	GUncertain significance
Select item 2857928	NM_198999.3(SLC26A5):c.1515-1G>A	SLC26A5	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 1213463	NM_198999.3(SLC26A5):c.1515-43G>A	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676192	NM_198999.3(SLC26A5):c.1515-44C>T	SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201738	NM_198999.3(SLC26A5):c.1515-252G>A	SLC26A5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228026	NM_198999.3(SLC26A5):c.1514+187A>G	SLC26A5	Single nucleotide variant (intron variant)	not provided	GBenign

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