16512[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 1245937	NC_000001.11:g.54998647C>T	BSND	Single nucleotide variant	not provided	GBenign
Select item 1224218	NC_000001.11:g.54998739A>G	BSND	Single nucleotide variant	not provided	GBenign
Select item 1234155	NC_000001.11:g.54998838C>G	BSND	Single nucleotide variant	not provided	GBenign
Select item 1195481	NC_000001.11:g.54998895G>A	BSND	Single nucleotide variant	not provided	GLikely benign
Select item 1296749	NC_000001.11:g.54998926C>T	BSND, LOC129930596	Single nucleotide variant	not provided	GBenign
Select item 297670	NM_057176.3(BSND):c.-241G>A	BSND, LOC129930596	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1196624	NM_057176.3(BSND):c.-198G>A	BSND	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 297671	NM_057176.3(BSND):c.-175C>T	BSND	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 4A	GUncertain significance
Select item 297672	NM_057176.3(BSND):c.-156G>C	BSND	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297673	NM_057176.3(BSND):c.-117T>C	BSND	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297674	NM_057176.3(BSND):c.-70C>G	BSND	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 2577180	NM_057176.3(BSND):c.-42_-1dup	BSND	Duplication (inframe_insertion)	not specified	GUncertain significance
Select item 1187435	NM_057176.3(BSND):c.-44C>T	BSND	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 297675	NM_057176.3(BSND):c.-34G>A	BSND	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 4A	GUncertain significance
Select item 297676	NM_057176.3(BSND):c.-25C>T	BSND	Single nucleotide variant (5 prime UTR variant)	Bartter disease type 4A +1 more	GBenign/Likely benign
Select item 4380	NM_057176.3(BSND):c.1A>T (p.Met1Leu)	BSND (M1L)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 4A +1 more	GPathogenic
Select item 4384	NM_057176.3(BSND):c.3G>A (p.Met1Ile)	BSND (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 765465	NM_057176.3(BSND):c.9C>T (p.Asp3=)	BSND	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 667197	NM_057176.3(BSND):c.10G>A (p.Glu4Lys)	BSND (E4K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 4389	NM_057176.3(BSND):c.10G>T (p.Glu4Ter)	BSND (E4*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 290808	NM_057176.3(BSND):c.16A>G (p.Thr6Ala)	BSND (T6A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2910107	NM_057176.3(BSND):c.22C>G (p.Arg8Gly)	BSND (R8G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 4381	NM_057176.3(BSND):c.22C>T (p.Arg8Trp)	BSND (R8W)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2202510	NM_057176.3(BSND):c.23G>A (p.Arg8Gln)	BSND (R8Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 4386	NM_057176.3(BSND):c.23G>T (p.Arg8Leu)	BSND (R8L)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GPathogenic
Select item 2980954	NM_057176.3(BSND):c.24G>A (p.Arg8=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588199	NM_057176.3(BSND):c.24G>T (p.Arg8=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990158	NM_057176.3(BSND):c.27C>T (p.Ile9=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4385	NM_057176.3(BSND):c.28G>A (p.Gly10Ser)	BSND (G10S)	Single nucleotide variant (missense variant)	Bartter syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2105362	NM_057176.3(BSND):c.30C>T (p.Gly10=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4388	NM_057176.3(BSND):c.35T>C (p.Ile12Thr)	BSND (I12T)	Single nucleotide variant (missense variant)	Bartter syndrome +2 more	GPathogenic
Select item 2764061	NM_057176.3(BSND):c.45G>A (p.Gly15=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528546	NM_057176.3(BSND):c.51C>T (p.Phe17=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 634810	NM_057176.3(BSND):c.52C>G (p.Leu18Val)	BSND (L18V)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 2893006	NM_057176.3(BSND):c.57G>A (p.Leu19=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 46550	NM_057176.3(BSND):c.63C>T (p.Leu21=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +2 more	GBenign
Select item 1064565	NM_057176.3(BSND):c.64G>A (p.Gly22Ser)	BSND (G22S)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 992426	NM_057176.3(BSND):c.64G>C (p.Gly22Arg)	BSND (G22R)	Single nucleotide variant (missense variant)	Bartter disease type 4A	GUncertain significance
Select item 1653211	NM_057176.3(BSND):c.66T>C (p.Gly22=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3261960	NM_057176.3(BSND):c.68C>T (p.Thr23Met)	BSND (T23M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739077	NM_057176.3(BSND):c.69G>A (p.Thr23=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795724	NM_057176.3(BSND):c.75C>T (p.Leu25=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610608	NM_057176.3(BSND):c.84T>C (p.His28=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2164393	NM_057176.3(BSND):c.89G>A (p.Arg30Gln)	BSND (R30Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2202763	NM_057176.3(BSND):c.94C>T (p.Gln32Ter)	BSND (Q32*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1323985	NM_057176.3(BSND):c.97G>C (p.Val33Leu)	BSND (V33L)	Single nucleotide variant (missense variant)	Bartter disease type 4A +1 more	GPathogenic/Likely pathogenic
Select item 227188	NM_057176.3(BSND):c.102C>T (p.Tyr34=)	BSND	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2513194	NM_057176.3(BSND):c.103G>C (p.Gly35Arg)	BSND (G35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2910108	NM_057176.3(BSND):c.107C>A (p.Thr36Asn)	BSND (T36N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1158464	NM_057176.3(BSND):c.111C>T (p.Phe37=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745086	NM_057176.3(BSND):c.126C>T (p.Ser42=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 46545	NM_057176.3(BSND):c.127G>A (p.Val43Ile)	BSND (V43I)	Single nucleotide variant (missense variant)	Bartter disease type 4A +2 more	GBenign/Likely benign
Select item 1151480	NM_057176.3(BSND):c.135G>A (p.Val45=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103107	NM_057176.3(BSND):c.143dup (p.Ile49fs)	BSND (I49fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1129941	NM_057176.3(BSND):c.138C>T (p.Ile46=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1452822	NM_057176.3(BSND):c.143del (p.Gly48fs)	BSND (G48fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 4387	NM_057176.3(BSND):c.139G>A (p.Gly47Arg)	BSND (G47R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive +2 more	GPathogenic
Select item 722781	NM_057176.3(BSND):c.141G>C (p.Gly47=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 4382	NM_057176.3(BSND):c.157_177+20del	BSND	Deletion (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1566285	NM_057176.3(BSND):c.162C>T (p.Cys54=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005597	NM_057176.3(BSND):c.163C>T (p.Gln55Ter)	BSND (Q55*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2870094	NM_057176.3(BSND):c.165G>A (p.Gln55=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1310682	NM_057176.3(BSND):c.167_168insTTTCCC (p.Cys56_Tyr57insPhePro)	BSND	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1122459	NM_057176.3(BSND):c.168C>T (p.Cys56=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030162	NM_057176.3(BSND):c.174del (p.Lys59fs)	BSND (K59fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2017612	NM_057176.3(BSND):c.171C>T (p.Tyr57=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358787	NM_057176.3(BSND):c.173C>G (p.Pro58Arg)	BSND (P58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46548	NM_057176.3(BSND):c.177+7G>A	BSND	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 46546	NM_057176.3(BSND):c.177+11G>A	BSND	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 46547	NM_057176.3(BSND):c.177+15G>C	BSND	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 3013394	NM_057176.3(BSND):c.177+20G>C	BSND	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269194	NM_057176.3(BSND):c.177+23G>A	BSND	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243321	NM_057176.3(BSND):c.177+156CCAT[11]	BSND	Microsatellite (intron variant)	not provided	GBenign
Select item 1262994	NM_057176.3(BSND):c.177+156CCAT[8]	BSND	Microsatellite (intron variant)	not provided	GBenign
Select item 1244630	NM_057176.3(BSND):c.177+156CCAT[9]	BSND	Microsatellite (intron variant)	not provided	GBenign
Select item 1200578	NM_057176.3(BSND):c.177+163T>C	BSND	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230927	NM_057176.3(BSND):c.177+164_177+165del	BSND	Deletion (intron variant)	not provided	GBenign
Select item 1178851	NM_057176.3(BSND):c.177+167_177+168del	BSND	Deletion (intron variant)	not provided	GLikely benign
Select item 3014103	NM_057176.3(BSND):c.178-19_178-18del	BSND	Deletion (intron variant)	not provided	GLikely benign
Select item 2738559	NM_057176.3(BSND):c.178-20T>G	BSND	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961602	NM_057176.3(BSND):c.178-18TC[2]	BSND	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1951442	NM_057176.3(BSND):c.178-17C>T	BSND	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1078964	NM_057176.3(BSND):c.178-7C>T	BSND	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812563	NM_057176.3(BSND):c.178-2A>C	BSND	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1643928	NM_057176.3(BSND):c.180C>T (p.Ile60=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 227189	NM_057176.3(BSND):c.183C>T (p.Thr61=)	BSND	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1156125	NM_057176.3(BSND):c.186C>T (p.Phe62=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187027	NM_057176.3(BSND):c.187G>A (p.Val63Ile)	BSND (V63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 46549	NM_057176.3(BSND):c.189C>T (p.Val63=)	BSND	Single nucleotide variant (synonymous variant)	Bartter disease type 4A +2 more	GBenign/Likely benign
Select item 2499807	NM_057176.3(BSND):c.193G>A (p.Ala65Thr)	BSND (A65T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2607747	NM_057176.3(BSND):c.194C>A (p.Ala65Asp)	BSND (A65D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 667196	NM_057176.3(BSND):c.197A>G (p.Asp66Gly)	BSND (D66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2706379	NM_057176.3(BSND):c.213C>A (p.Gly71=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990159	NM_057176.3(BSND):c.214A>T (p.Ile72Phe)	BSND (I72F)	Single nucleotide variant (missense variant)	Bartter syndrome	GUncertain significance
Select item 1602386	NM_057176.3(BSND):c.216C>T (p.Ile72=)	BSND	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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