SLC6A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 148234	GRCh38/hg38 3p26.1-25.2(chr3:7975734-12636917)x3	ARPC4, ARPC4-TTLL3 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 146336	GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4	ARPC4, ARPC4-TTLL3 +146 more	Copy number gain	See cases	GLikely pathogenic
Select item 148359	GRCh38/hg38 3p25.3-25.2(chr3:9394874-11690612)x1	ARPC4, ARPC4-TTLL3 +118 more	Copy number loss	See cases	GPathogenic
Select item 57766	GRCh38/hg38 3p25.3-25.2(chr3:10019780-12251358)x1	ATG7, ATP2B2 +79 more	Copy number loss	See cases	GPathogenic
Select item 155031	GRCh38/hg38 3p25.3(chr3:10220962-11165449)x1	ATP2B2, ATP2B2-IT1 +36 more	Copy number loss	See cases	GUncertain significance
Select item 1246526	NM_003042.4(SLC6A1):c.-204G>A	SLC6A1, SLC6A1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1217809	NM_003042.4(SLC6A1):c.-153-284A>G	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288263	NM_003042.4(SLC6A1):c.-153-243T>C	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214319	NM_003042.4(SLC6A1):c.-153-168C>G	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226679	NM_003042.4(SLC6A1):c.-153-81C>T	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272282	NM_003042.4(SLC6A1):c.-153-65G>C	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217800	NM_003042.4(SLC6A1):c.-17C>T	SLC6A1, SLC6A1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 546929	NM_003042.4(SLC6A1):c.-5G>A	SLC6A1, SLC6A1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 2155429	NM_003042.4(SLC6A1):c.5C>T (p.Ala2Val)	SLC6A1, SLC6A1-AS1 (A2V)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1188750	NM_003042.4(SLC6A1):c.5C>A (p.Ala2Glu)	SLC6A1, SLC6A1-AS1 (A2E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 542214	NM_003042.4(SLC6A1):c.6G>A (p.Ala2=)	SLC6A1-AS1, SLC6A1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2030194	NM_003042.4(SLC6A1):c.9C>A (p.Thr3=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1604984	NM_003042.4(SLC6A1):c.12C>T (p.Asn4=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 2054325	NM_003042.4(SLC6A1):c.13G>A (p.Gly5Ser)	SLC6A1, SLC6A1-AS1 (G5S)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GConflicting classifications of pathogenicity
Select item 956975	NM_003042.4(SLC6A1):c.25del (p.Ala9fs)	SLC6A1, SLC6A1-AS1 (A9fs)	Deletion (frameshift variant +1 more)	Myoclonic-astatic epilepsy	GPathogenic
Select item 1630667	NM_003042.4(SLC6A1):c.27C>T (p.Ala9=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1346718	NM_003042.4(SLC6A1):c.28G>A (p.Asp10Asn)	SLC6A1, SLC6A1-AS1 (D10N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2010401	NM_003042.4(SLC6A1):c.30C>T (p.Asp10=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GBenign
Select item 801934	NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)	SLC6A1, SLC6A1-AS1 (G11R)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1001393	NM_003042.4(SLC6A1):c.37A>T (p.Ile13Phe)	SLC6A1, SLC6A1-AS1 (I13F)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 542197	NM_003042.4(SLC6A1):c.37A>G (p.Ile13Val)	SLC6A1, SLC6A1-AS1 (I13V)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 854894	NM_003042.4(SLC6A1):c.38T>C (p.Ile13Thr)	SLC6A1, SLC6A1-AS1 (I13T)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GBenign
Select item 1014188	NM_003042.4(SLC6A1):c.40T>C (p.Ser14Pro)	SLC6A1, SLC6A1-AS1 (S14P)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GBenign
Select item 475481	NM_003042.4(SLC6A1):c.45C>T (p.Thr15=)	SLC6A1-AS1, SLC6A1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy +3 more	GLikely benign
Select item 2578404	NM_003042.4(SLC6A1):c.46G>T (p.Glu16Ter)	SLC6A1, SLC6A1-AS1 (E16*)	Single nucleotide variant (nonsense +1 more)	Myoclonic-astatic epilepsy	GPathogenic
Select item 2414868	NM_003042.4(SLC6A1):c.46G>A (p.Glu16Lys)	SLC6A1, SLC6A1-AS1 (E16K)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 475485	NM_003042.4(SLC6A1):c.52A>G (p.Ser18Gly)	SLC6A1, SLC6A1-AS1 (S18G)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GBenign
Select item 844691	NM_003042.4(SLC6A1):c.54C>T (p.Ser18=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 1310054	NM_003042.4(SLC6A1):c.55G>A (p.Glu19Lys)	SLC6A1, SLC6A1-AS1 (E19K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108032	NM_003042.4(SLC6A1):c.59C>T (p.Ala20Val)	SLC6A1, SLC6A1-AS1 (A20V)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2862330	NM_003042.4(SLC6A1):c.69C>T (p.Ala23=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 740914	NM_003042.4(SLC6A1):c.69C>A (p.Ala23=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717220	NM_003042.4(SLC6A1):c.70A>C (p.Asn24His)	SLC6A1, SLC6A1-AS1 (N24H)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 1141721	NM_003042.4(SLC6A1):c.72T>C (p.Asn24=)	SLC6A1-AS1, SLC6A1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2662168	NM_003042.4(SLC6A1):c.74A>T (p.Asp25Val)	SLC6A1, SLC6A1-AS1 (D25V)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 989274	NM_003042.4(SLC6A1):c.75C>G (p.Asp25Glu)	SLC6A1, SLC6A1-AS1 (D25E)	Single nucleotide variant (missense variant +1 more)	Myoclonic-astatic epilepsy	GUncertain significance
Select item 1518779	NM_003042.4(SLC6A1):c.79C>T (p.Pro27Ser)	SLC6A1, SLC6A1-AS1 (P27S)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2634574	NM_003042.4(SLC6A1):c.85A>G (p.Thr29Ala)	SLC6A1, SLC6A1-AS1 (T29A)	Single nucleotide variant (missense variant +1 more)	SLC6A1-related disorder	GUncertain significance
Select item 1179014	NM_003042.4(SLC6A1):c.89T>A (p.Leu30Ter)	SLC6A1, SLC6A1-AS1 (L30*)	Single nucleotide variant (nonsense +1 more)	Myoclonic-astatic epilepsy	GPathogenic
Select item 1308869	NM_003042.4(SLC6A1):c.90G>C (p.Leu30Phe)	SLC6A1, SLC6A1-AS1 (L30F)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy +1 more	GUncertain significance
Select item 587970	NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu)	SLC6A1, SLC6A1-AS1 (K33E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2633957	NM_003042.4(SLC6A1):c.99G>T (p.Lys33Asn)	SLC6A1-AS1, SLC6A1 (K33N)	Single nucleotide variant (missense variant +1 more)	SLC6A1-related disorder	GUncertain significance
Select item 1582267	NM_003042.4(SLC6A1):c.99G>A (p.Lys33=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 809423	NM_003042.4(SLC6A1):c.99G>C (p.Lys33Asn)	SLC6A1, SLC6A1-AS1 (K33N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1721913	NM_003042.4(SLC6A1):c.103C>G (p.Gln35Glu)	SLC6A1, SLC6A1-AS1 (Q35E)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 1327406	NM_003042.4(SLC6A1):c.104dup (p.Lys36fs)	SLC6A1, SLC6A1-AS1 (K36fs)	Duplication (frameshift variant +1 more)	Myoclonic-astatic epilepsy	Gnot provided
Select item 3165348	NM_003042.4(SLC6A1):c.109A>G (p.Lys37Glu)	SLC6A1, SLC6A1-AS1 (K37E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1043596	NM_003042.4(SLC6A1):c.109_110delinsGC (p.Lys37Ala)	SLC6A1, SLC6A1-AS1 (K37A)	Indel (missense variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 3165349	NM_003042.4(SLC6A1):c.110A>C (p.Lys37Thr)	SLC6A1, SLC6A1-AS1 (K37T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 765403	NM_003042.4(SLC6A1):c.114G>C (p.Ala38=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-astatic epilepsy	GLikely benign
Select item 757902	NM_003042.4(SLC6A1):c.114G>A (p.Ala38=)	SLC6A1-AS1, SLC6A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1371862	NM_003042.4(SLC6A1):c.115G>A (p.Ala39Thr)	SLC6A1, SLC6A1-AS1 (A39T)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GBenign
Select item 2698725	NM_003042.4(SLC6A1):c.118G>A (p.Asp40Asn)	SLC6A1, SLC6A1-AS1 (D40N)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 3065895	NM_003042.4(SLC6A1):c.121C>T (p.Leu41Phe)	SLC6A1, SLC6A1-AS1 (L41F)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2730845	NM_003042.4(SLC6A1):c.126C>G (p.Pro42=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 741706	NM_003042.4(SLC6A1):c.126C>T (p.Pro42=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 938729	NM_003042.4(SLC6A1):c.127G>A (p.Asp43Asn)	SLC6A1, SLC6A1-AS1 (D43N)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1476956	NM_003042.4(SLC6A1):c.129C>A (p.Asp43Glu)	SLC6A1, SLC6A1-AS1 (D43E)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 449654	NM_003042.4(SLC6A1):c.130C>T (p.Arg44Trp)	SLC6A1, SLC6A1-AS1 (R44W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 582356	NM_003042.4(SLC6A1):c.131G>C (p.Arg44Pro)	SLC6A1, SLC6A1-AS1 (R44P)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 192368	NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)	SLC6A1, SLC6A1-AS1 (R44Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2824609	NM_003042.4(SLC6A1):c.135C>T (p.Asp45=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1315486	NM_003042.4(SLC6A1):c.137C>T (p.Thr46Met)	SLC6A1, SLC6A1-AS1 (T46M)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2844031	NM_003042.4(SLC6A1):c.138G>T (p.Thr46=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 1959585	NM_003042.4(SLC6A1):c.138G>C (p.Thr46=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 475471	NM_003042.4(SLC6A1):c.138G>A (p.Thr46=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy +3 more	GBenign
Select item 2845901	NM_003042.4(SLC6A1):c.143A>T (p.Lys48Met)	SLC6A1, SLC6A1-AS1 (K48M)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2690032	NM_003042.4(SLC6A1):c.144G>C (p.Lys48Asn)	SLC6A1, SLC6A1-AS1 (K48N)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 2008870	NM_003042.4(SLC6A1):c.144G>A (p.Lys48=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (synonymous variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign
Select item 847470	NM_003042.4(SLC6A1):c.144G>T (p.Lys48Asn)	SLC6A1, SLC6A1-AS1 (K48N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 987285	NM_003042.4(SLC6A1):c.148_151del (p.Arg50fs)	SLC6A1-AS1, SLC6A1 (R50fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 430183	NM_003042.4(SLC6A1):c.148C>T (p.Arg50Cys)	SLC6A1-AS1, SLC6A1 (R50C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 935526	NM_003042.4(SLC6A1):c.149G>A (p.Arg50His)	SLC6A1-AS1, SLC6A1 (R50H)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GBenign
Select item 807496	NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu)	SLC6A1, SLC6A1-AS1 (R50L)	Single nucleotide variant (missense variant +1 more)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 2191714	NM_003042.4(SLC6A1):c.151T>C (p.Phe51Leu)	SLC6A1, SLC6A1-AS1 (F51L)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 475474	NM_003042.4(SLC6A1):c.152T>A (p.Phe51Tyr)	SLC6A1, SLC6A1-AS1 (F51Y)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2692588	NM_003042.4(SLC6A1):c.153C>T (p.Phe51=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1804228	NM_003042.4(SLC6A1):c.154G>A (p.Asp52Asn)	SLC6A1, SLC6A1-AS1 (D52N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 652785	NM_003042.4(SLC6A1):c.154G>T (p.Asp52Tyr)	SLC6A1, SLC6A1-AS1 (D52Y)	Single nucleotide variant (missense variant +1 more)	Myoclonic-atonic epilepsy	GUncertain significance
Select item 987286	NM_003042.4(SLC6A1):c.155A>T (p.Asp52Val)	SLC6A1, SLC6A1-AS1 (D52V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 987287	NM_003042.4(SLC6A1):c.156C>G (p.Asp52Glu)	SLC6A1, SLC6A1-AS1 (D52E)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 987288	NM_003042.4(SLC6A1):c.158T>C (p.Phe53Ser)	SLC6A1, SLC6A1-AS1 (F53S)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2982921	NM_003042.4(SLC6A1):c.159C>T (p.Phe53=)	SLC6A1, SLC6A1-AS1	Single nucleotide variant (intron variant +1 more)	Myoclonic-atonic epilepsy	GLikely benign

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