SLC6A5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 154490	GRCh38/hg38 11p15.1(chr11:20375594-20634327)x1	HTATIP2, LOC124421507 +8 more	Copy number loss	See cases	GUncertain significance
Select item 152836	GRCh38/hg38 11p15.1(chr11:20497522-20655482)x3	LOC124421507, LOC132089912 +4 more	Copy number gain	See cases	GUncertain significance
Select item 368950	NM_004211.4(SLC6A5):c.-279A>G	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 303983	NM_004211.4(SLC6A5):c.-239A>G	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 303984	NM_004211.4(SLC6A5):c.-192C>T	SLC6A5	Single nucleotide variant	Hyperekplexia	GBenign
Select item 303985	NM_004211.4(SLC6A5):c.-181A>G	SLC6A5	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 303986	NM_004211.4(SLC6A5):c.-176T>G	SLC6A5	Single nucleotide variant	not provided +1 more	GBenign
Select item 303987	NM_004211.4(SLC6A5):c.-138G>A	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 303988	NM_004211.4(SLC6A5):c.-91A>G	SLC6A5	Single nucleotide variant	Hyperekplexia	GLikely benign
Select item 303989	NM_004211.4(SLC6A5):c.-82delG	SLC6A5	Deletion	Hyperekplexia	GUncertain significance
Select item 303990	NM_004211.5(SLC6A5):c.-41G>T	SLC6A5	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia	GLikely benign
Select item 303991	NM_004211.5(SLC6A5):c.-33C>T	SLC6A5	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia +1 more	GBenign
Select item 303992	NM_004211.5(SLC6A5):c.-2A>G	SLC6A5	Single nucleotide variant (5 prime UTR variant)	Hyperekplexia	GUncertain significance
Select item 2074189	NM_004211.5(SLC6A5):c.3+1G>T	SLC6A5	Single nucleotide variant (splice donor variant)	Hyperekplexia 3	GLikely pathogenic
Select item 2108497	NM_004211.5(SLC6A5):c.3+8_3+11del	SLC6A5	Deletion (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2173286	NM_004211.5(SLC6A5):c.3+8T>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2790143	NM_004211.5(SLC6A5):c.3+15T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 1968460	NM_004211.5(SLC6A5):c.3+16T>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2000564	NM_004211.5(SLC6A5):c.3+18T>G	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 1660676	NM_004211.5(SLC6A5):c.3+20C>T	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 1235347	NM_004211.5(SLC6A5):c.4-212A>C	SLC6A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269491	NM_004211.5(SLC6A5):c.4-146C>A	SLC6A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297945	NM_004211.5(SLC6A5):c.4-70A>G	SLC6A5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2140397	NM_004211.5(SLC6A5):c.4-15A>G	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2718832	NM_004211.5(SLC6A5):c.4-13A>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 3002856	NM_004211.5(SLC6A5):c.4-12T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 303993	NM_004211.5(SLC6A5):c.4-11T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GConflicting classifications of pathogenicity
Select item 1349249	NM_004211.5(SLC6A5):c.4-9T>G	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GUncertain significance
Select item 2807532	NM_004211.5(SLC6A5):c.4-8_4-7insCTC	SLC6A5	Insertion (intron variant)	Hyperekplexia 3	GLikely benign
Select item 449100	NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)	SLC6A5 (C3*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1577050	NM_004211.5(SLC6A5):c.18C>T (p.Pro6=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1528430	NM_004211.5(SLC6A5):c.21G>A (p.Lys7=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1466197	NM_004211.5(SLC6A5):c.27G>A (p.Met9Ile)	SLC6A5 (M9I)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 2104870	NM_004211.5(SLC6A5):c.28A>C (p.Asn10His)	SLC6A5 (N10H)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 2858966	NM_004211.5(SLC6A5):c.31A>T (p.Lys11Ter)	SLC6A5 (K11*)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GPathogenic
Select item 1160159	NM_004211.5(SLC6A5):c.45C>T (p.Asn15=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1630383	NM_004211.5(SLC6A5):c.51G>A (p.Pro17=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1037924	NM_004211.5(SLC6A5):c.52G>C (p.Glu18Gln)	SLC6A5 (E18Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 783593	NM_004211.5(SLC6A5):c.57G>T (p.Ala19=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GBenign
Select item 303994	NM_004211.5(SLC6A5):c.59C>T (p.Ala20Val)	SLC6A5 (A20V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia +2 more	GConflicting classifications of pathogenicity
Select item 1402758	NM_004211.5(SLC6A5):c.61G>A (p.Ala21Thr)	SLC6A5 (A21T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1543368	NM_004211.5(SLC6A5):c.66G>A (p.Ala22=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2763202	NM_004211.5(SLC6A5):c.72C>T (p.Gly24=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1520553	NM_004211.5(SLC6A5):c.76C>A (p.Pro26Thr)	SLC6A5 (P26T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1060018	NM_004211.5(SLC6A5):c.76C>T (p.Pro26Ser)	SLC6A5 (P26S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 303995	NM_004211.5(SLC6A5):c.77C>T (p.Pro26Leu)	SLC6A5 (P26L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia	GUncertain significance
Select item 2006637	NM_004211.5(SLC6A5):c.78G>A (p.Pro26=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2030205	NM_004211.5(SLC6A5):c.81T>C (p.Asp27=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1717591	NM_004211.5(SLC6A5):c.83G>A (p.Gly28Asp)	SLC6A5 (G28D)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 2010623	NM_004211.5(SLC6A5):c.85C>T (p.Pro29Ser)	SLC6A5 (P29S)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1992137	NM_004211.5(SLC6A5):c.86C>T (p.Pro29Leu)	SLC6A5 (P29L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1458893	NM_004211.5(SLC6A5):c.90C>A (p.Cys30Ter)	SLC6A5 (C30*)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GPathogenic
Select item 303996	NM_004211.5(SLC6A5):c.95C>T (p.Pro32Leu)	SLC6A5 (P32L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia +1 more	GLikely benign
Select item 303997	NM_004211.5(SLC6A5):c.96C>T (p.Pro32=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia +1 more	GConflicting classifications of pathogenicity
Select item 950358	NM_004211.5(SLC6A5):c.98G>C (p.Arg33Thr)	SLC6A5 (R33T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3 +1 more	GUncertain significance
Select item 1561354	NM_004211.5(SLC6A5):c.102G>T (p.Thr34=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GBenign
Select item 1980307	NM_004211.5(SLC6A5):c.103A>G (p.Ser35Gly)	SLC6A5 (S35G)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1353349	NM_004211.5(SLC6A5):c.107C>T (p.Pro36Leu)	SLC6A5 (P36L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 3165469	NM_004211.5(SLC6A5):c.110A>G (p.Glu37Gly)	SLC6A5 (E37G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2092358	NM_004211.5(SLC6A5):c.115G>A (p.Glu39Lys)	SLC6A5 (E39K)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1985270	NM_004211.5(SLC6A5):c.123C>A (p.Pro41=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2641686	NM_004211.5(SLC6A5):c.128C>A (p.Ala43Asp)	SLC6A5 (A43D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2176549	NM_004211.5(SLC6A5):c.132C>A (p.Ala44=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1383651	NM_004211.5(SLC6A5):c.133_134delinsAA (p.Ala45Asn)	SLC6A5 (A45N)	Indel (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 2511385	NM_004211.5(SLC6A5):c.134C>T (p.Ala45Val)	SLC6A5 (A45V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 303998	NM_004211.5(SLC6A5):c.134C>G (p.Ala45Gly)	SLC6A5 (A45G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2087031	NM_004211.5(SLC6A5):c.135C>T (p.Ala45=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 303999	NM_004211.5(SLC6A5):c.137C>G (p.Pro46Arg)	SLC6A5 (P46R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1358653	NM_004211.5(SLC6A5):c.139C>A (p.Pro47Thr)	SLC6A5 (P47T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 2190546	NM_004211.5(SLC6A5):c.144G>C (p.Pro48=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1417083	NM_004211.5(SLC6A5):c.149G>A (p.Arg50His)	SLC6A5 (R50H)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 304000	NM_004211.5(SLC6A5):c.150T>G (p.Arg50=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3 +1 more	GLikely benign
Select item 2217694	NM_004211.5(SLC6A5):c.154C>A (p.Pro52Thr)	SLC6A5 (P52T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2096451	NM_004211.5(SLC6A5):c.162C>A (p.Ser54=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1616886	NM_004211.5(SLC6A5):c.169A>G (p.Thr57Ala)	SLC6A5 (T57A)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 748896	NM_004211.5(SLC6A5):c.171C>T (p.Thr57=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1522238	NM_004211.5(SLC6A5):c.172G>C (p.Gly58Arg)	SLC6A5 (G58R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1345081	NM_004211.5(SLC6A5):c.175G>A (p.Ala59Thr)	SLC6A5 (A59T)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1970065	NM_004211.5(SLC6A5):c.179A>G (p.Gln60Arg)	SLC6A5 (Q60R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1508865	NM_004211.5(SLC6A5):c.179A>C (p.Gln60Pro)	SLC6A5 (Q60P)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 2177772	NM_004211.5(SLC6A5):c.180A>C (p.Gln60His)	SLC6A5 (Q60H)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1633032	NM_004211.5(SLC6A5):c.183T>G (p.Thr61=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1457208	NM_004211.5(SLC6A5):c.187C>T (p.Gln63Ter)	SLC6A5 (Q63*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1984630	NM_004211.5(SLC6A5):c.194C>T (p.Ala65Val)	SLC6A5 (A65V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1309028	NM_004211.5(SLC6A5):c.194C>G (p.Ala65Gly)	SLC6A5 (A65G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1045815	NM_004211.5(SLC6A5):c.194C>A (p.Ala65Glu)	SLC6A5 (A65E)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 2107089	NM_004211.5(SLC6A5):c.195G>A (p.Ala65=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1406306	NM_004211.5(SLC6A5):c.197A>T (p.Asp66Val)	SLC6A5 (D66V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1400678	NM_004211.5(SLC6A5):c.198C>A (p.Asp66Glu)	SLC6A5 (D66E)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1146550	NM_004211.5(SLC6A5):c.201G>A (p.Ala67=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2258941	NM_004211.5(SLC6A5):c.218A>C (p.Glu73Ala)	SLC6A5 (E73A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1715130	NM_004211.5(SLC6A5):c.218A>G (p.Glu73Gly)	SLC6A5 (E73G)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 1666255	NM_004211.5(SLC6A5):c.225A>G (p.Pro75=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1949195	NM_004211.5(SLC6A5):c.228A>T (p.Gly76=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 1714482	NM_004211.5(SLC6A5):c.233G>C (p.Gly78Ala)	SLC6A5 (G78A)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 749352	NM_004211.5(SLC6A5):c.234G>A (p.Gly78=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2160455	NM_004211.5(SLC6A5):c.236C>G (p.Ser79Cys)	SLC6A5 (S79C)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 2080579	NM_004211.5(SLC6A5):c.236C>T (p.Ser79Phe)	SLC6A5 (S79F)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance

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