13818[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 1296825	NC_000020.11:g.46021442ATGA[5]	SLC12A5, SLC12A5-AS1	Microsatellite	not provided	GBenign
Select item 1260003	NR_147699.1(SLC12A5-AS1):n.395T>A	LOC130065979, SLC12A5 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1341712	NM_001134771.2(SLC12A5):c.5G>A (p.Ser2Asn)	LOC130065980, SLC12A5 +1 more (S2N)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 34 +1 more	GUncertain significance
Select item 2228333	NM_001134771.2(SLC12A5):c.8G>A (p.Arg3His)	LOC130065980, SLC12A5 +1 more (R3H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1675859	NM_001134771.2(SLC12A5):c.32C>G (p.Pro11Arg)	LOC130065980, SLC12A5 +1 more (P11R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2652356	NM_001134771.2(SLC12A5):c.34C>G (p.Pro12Ala)	LOC130065980, SLC12A5 +1 more (P12A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 872727	NM_001134771.2(SLC12A5):c.71G>A (p.Arg24His)	LOC130065980, SLC12A5 +1 more (R24H)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1683283	NM_001134771.2(SLC12A5):c.74G>A (p.Arg25Gln)	SLC12A5, SLC12A5-AS1 +1 more (R25Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3239235	NM_001134771.2(SLC12A5):c.75G>A (p.Arg25=)	SLC12A5-AS1, LOC130065980 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2652357	NM_001134771.2(SLC12A5):c.107G>A (p.Gly36Glu)	LOC130065980, SLC12A5 +1 more (G36E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2628353	NM_001134771.2(SLC12A5):c.116T>A (p.Val39Asp)	LOC130065980, SLC12A5 +1 more (V39D)	Single nucleotide variant (non-coding transcript variant +1 more)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2223814	NM_001134771.2(SLC12A5):c.121+4G>C	LOC130065980, SLC12A5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2652358	NM_001134771.2(SLC12A5):c.121+8C>A	LOC130065980, SLC12A5 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1183011	NM_001134771.2(SLC12A5):c.121+293A>G	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652359	NM_001134771.2(SLC12A5):c.121+1058GGA[16]	SLC12A5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1686324	NM_001134771.2(SLC12A5):c.121+1106_121+1132del	SLC12A5	Deletion (intron variant)	not specified	GBenign
Select item 1686325	NM_001134771.2(SLC12A5):c.121+1091_121+1111del	SLC12A5	Deletion (intron variant)	not specified	GBenign
Select item 1686411	NM_001134771.2(SLC12A5):c.121+1091A>G	SLC12A5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1686327	NM_001134771.2(SLC12A5):c.121+1092_121+1093insGAGG	SLC12A5	Insertion (intron variant)	not specified	GBenign
Select item 2161954	NM_020708.5(SLC12A5):c.6A>G (p.Leu2=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2753440	NM_020708.5(SLC12A5):c.9C>T (p.Asn3=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1465626	NM_020708.5(SLC12A5):c.17C>T (p.Thr6Met)	SLC12A5 (T6M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 578837	NM_020708.5(SLC12A5):c.18G>A (p.Thr6=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1014711	NM_020708.5(SLC12A5):c.21C>A (p.Asp7Glu)	SLC12A5 (D7E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 934757	NM_020708.5(SLC12A5):c.24C>A (p.Cys8Ter)	SLC12A5 (C8*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 34	GPathogenic
Select item 2014017	NM_020708.5(SLC12A5):c.25G>A (p.Glu9Lys)	SLC12A5 (E9K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2233393	NM_020708.5(SLC12A5):c.26A>G (p.Glu9Gly)	SLC12A5 (E9G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1414497	NM_020708.5(SLC12A5):c.30C>A (p.Asp10Glu)	SLC12A5 (D10E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 1090829	NM_020708.5(SLC12A5):c.33C>A (p.Gly11=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 772462	NM_020708.5(SLC12A5):c.36T>C (p.Asp12=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1647780	NM_020708.5(SLC12A5):c.39G>C (p.Gly13=)	SLC12A5	Single nucleotide variant (intron variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 938667	NM_020708.5(SLC12A5):c.42dup (p.Ala15fs)	SLC12A5 (A15fs)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 34	GPathogenic
Select item 749892	NM_020708.5(SLC12A5):c.42A>G (p.Gly14=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2839186	NM_020708.5(SLC12A5):c.45C>T (p.Ala15=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 3002174	NM_020708.5(SLC12A5):c.48C>T (p.Asn16=)	SLC12A5	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1714097	NM_020708.5(SLC12A5):c.50C>G (p.Pro17Arg)	SLC12A5 (P17R)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 568366	NM_020708.5(SLC12A5):c.52G>A (p.Gly18Ser)	SLC12A5 (G18S)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2898377	NM_020708.5(SLC12A5):c.52+9T>C	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2731441	NM_020708.5(SLC12A5):c.52+13C>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1636829	NM_020708.5(SLC12A5):c.52+13C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2846696	NM_020708.5(SLC12A5):c.52+15G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2071410	NM_020708.5(SLC12A5):c.52+15G>C	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1634286	NM_020708.5(SLC12A5):c.52+19del	SLC12A5	Deletion (intron variant)	Developmental and epileptic encephalopathy, 34	GBenign
Select item 1552722	NM_020708.5(SLC12A5):c.52+21_52+35del	SLC12A5	Deletion (intron variant)	Developmental and epileptic encephalopathy, 34	GBenign
Select item 1283605	NM_020708.5(SLC12A5):c.52+261G>A	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245054	NM_020708.5(SLC12A5):c.53-112T>C	SLC12A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1614108	NM_020708.5(SLC12A5):c.53-16C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1106345	NM_020708.5(SLC12A5):c.53-9C>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 663973	NM_020708.5(SLC12A5):c.53-3C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34 +1 more	GUncertain significance
Select item 2032760	NM_020708.5(SLC12A5):c.53-2A>C	SLC12A5	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 34	GLikely pathogenic
Select item 857040	NM_020708.5(SLC12A5):c.53-2A>G	SLC12A5	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 34	GLikely pathogenic
Select item 2759492	NM_020708.5(SLC12A5):c.53G>A (p.Gly18Asp)	SLC12A5 (G18D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 1003231	NM_020708.5(SLC12A5):c.64C>A (p.Pro22Thr)	SLC12A5 (P22T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2144964	NM_020708.5(SLC12A5):c.75C>T (p.Ser25=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 960385	NM_020708.5(SLC12A5):c.86T>C (p.Ile29Thr)	SLC12A5 (I52T +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 774109	NM_020708.5(SLC12A5):c.93C>T (p.Ser31=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 542322	NM_020708.5(SLC12A5):c.96C>T (p.Thr32=)	SLC12A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1431784	NM_020708.5(SLC12A5):c.97G>A (p.Asp33Asn)	SLC12A5 (D56N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 1010694	NM_020708.5(SLC12A5):c.108G>C (p.Lys36Asn)	SLC12A5 (K36N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2121982	NM_020708.5(SLC12A5):c.109G>C (p.Gly37Arg)	SLC12A5 (G60R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 659657	NM_020708.5(SLC12A5):c.115G>T (p.Glu39Ter)	SLC12A5 (E39* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 34	GPathogenic
Select item 949577	NM_020708.5(SLC12A5):c.116A>T (p.Glu39Val)	SLC12A5 (E39V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 1624386	NM_020708.5(SLC12A5):c.117G>A (p.Glu39=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1386668	NM_020708.5(SLC12A5):c.124G>T (p.Gly42Cys)	SLC12A5 (G42C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 1446206	NM_020708.5(SLC12A5):c.125G>A (p.Gly42Asp)	SLC12A5 (G42D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 1705614	NM_020708.5(SLC12A5):c.143T>C (p.Phe48Ser)	SLC12A5 (F48S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 953187	NM_020708.5(SLC12A5):c.147G>A (p.Glu49=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2093602	NM_020708.5(SLC12A5):c.147+1G>A	SLC12A5	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 34	GLikely pathogenic
Select item 2824320	NM_020708.5(SLC12A5):c.147+8G>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1150929	NM_020708.5(SLC12A5):c.147+9C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2871905	NM_020708.5(SLC12A5):c.147+14G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2990846	NM_020708.5(SLC12A5):c.147+17G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1496417	NM_020708.5(SLC12A5):c.147+18T>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1029767	NM_020708.5(SLC12A5):c.148-16C>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2899945	NM_020708.5(SLC12A5):c.148-13C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2120727	NM_020708.5(SLC12A5):c.148-10C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 758565	NM_020708.5(SLC12A5):c.148-8C>T	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2778449	NM_020708.5(SLC12A5):c.148-4A>G	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2085416	NM_020708.5(SLC12A5):c.171G>A (p.Met57Ile)	SLC12A5 (M57I +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 1129682	NM_020708.5(SLC12A5):c.186C>T (p.Leu62=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1103758	NM_020708.5(SLC12A5):c.192C>A (p.Gly64=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 1485633	NM_020708.5(SLC12A5):c.197C>T (p.Ala66Val)	SLC12A5 (A66V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 1150922	NM_020708.5(SLC12A5):c.207C>T (p.Thr69=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2805800	NM_020708.5(SLC12A5):c.213G>T (p.Leu71=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2957759	NM_020708.5(SLC12A5):c.219G>A (p.Gln73=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2970563	NM_020708.5(SLC12A5):c.225T>C (p.Ser75=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2801383	NM_020708.5(SLC12A5):c.231G>A (p.Glu77=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 953082	NM_020708.5(SLC12A5):c.242C>T (p.Ala81Val)	SLC12A5 (A81V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2116239	NM_020708.5(SLC12A5):c.252T>C (p.Asn84=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2428303	NM_020708.5(SLC12A5):c.256G>A (p.Gly86Ser)	SLC12A5 (G109S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2609122	NM_020708.5(SLC12A5):c.259G>A (p.Gly87Arg)	SLC12A5 (G110R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 856637	NM_020708.5(SLC12A5):c.266del (p.Lys89fs)	SLC12A5 (K89fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 34	GPathogenic
Select item 3052720	NM_020708.5(SLC12A5):c.267G>C (p.Lys89Asn)	SLC12A5 (K112N +1 more)	Single nucleotide variant (missense variant)	SLC12A5-related disorder	GUncertain significance
Select item 653115	NM_020708.5(SLC12A5):c.272C>T (p.Pro91Leu)	SLC12A5 (P114L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 475653	NM_020708.5(SLC12A5):c.273G>A (p.Pro91=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign
Select item 2037679	NM_020708.5(SLC12A5):c.275T>C (p.Val92Ala)	SLC12A5 (V92A +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 1931431	NM_020708.5(SLC12A5):c.276G>A (p.Val92=)	SLC12A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 34	GLikely benign

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