ClinVar for MedGen (Select 390739) - ClinVar

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Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3252107	NM_004172.5(SLC1A3):c.1165T>C (p.Phe389Leu)	SLC1A3 (F277L +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6	GUncertain significance
Select item 3066256	NM_004172.5(SLC1A3):c.1444del (p.Thr482fs)	SLC1A3 (T370fs +3 more)	Deletion (frameshift variant)	Episodic ataxia type 6	GUncertain significance
Select item 2441631	NM_004172.5(SLC1A3):c.1436G>A (p.Arg479Gln)	SLC1A3 (R367Q +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6	GUncertain significance
Select item 2435982	NM_004172.5(SLC1A3):c.674C>T (p.Thr225Ile)	SLC1A3 (T179I +1 more)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 6	GUncertain significance
Select item 1805783	NM_004172.5(SLC1A3):c.299T>C (p.Ile100Thr)	SLC1A3 (I100T)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 6	GUncertain significance
Select item 1679170	NM_004172.5(SLC1A3):c.542A>G (p.Asn181Ser)	SLC1A3 (N135S +1 more)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 6	GUncertain significance
Select item 1675981	NM_004172.5(SLC1A3):c.1025G>A (p.Arg342Gln)	SLC1A3 (R230Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1341725	NM_004172.5(SLC1A3):c.329C>T (p.Ala110Val)	SLC1A3 (A110V +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6	GUncertain significance
Select item 1298988	NM_004172.5(SLC1A3):c.1397C>T (p.Thr466Met)	SLC1A3 (T354M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1256120	NM_004172.5(SLC1A3):c.1144G>A (p.Val382Met)	SLC1A3 (V270M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1198000	NM_004172.5(SLC1A3):c.476G>A (p.Gly159Asp)	SLC1A3 (G113D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1180066	NM_004172.5(SLC1A3):c.1289+22C>T	SLC1A3	Single nucleotide variant (intron variant)	Episodic ataxia type 6 +1 more	GBenign
Select item 1028197	NM_004172.5(SLC1A3):c.209C>G (p.Pro70Arg)	SLC1A3 (P70R)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 6	GUncertain significance
Select item 994971	NM_004172.5(SLC1A3):c.770T>C (p.Ile257Thr)	SLC1A3 (I211T +1 more)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 6 +1 more	GUncertain significance
Select item 907445	NM_004172.5(SLC1A3):c.*1028A>G	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 907444	NM_004172.5(SLC1A3):c.*955C>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 907443	NM_004172.5(SLC1A3):c.*843C>T	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 907392	NM_004172.5(SLC1A3):c.1094+12T>C	SLC1A3	Single nucleotide variant (intron variant)	Episodic ataxia type 6 +1 more	GBenign
Select item 907391	NM_004172.5(SLC1A3):c.955G>A (p.Val319Met)	SLC1A3 (V319M +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6	GUncertain significance
Select item 907390	NM_004172.5(SLC1A3):c.954C>T (p.Thr318=)	SLC1A3	Single nucleotide variant (synonymous variant)	Episodic ataxia type 6	GBenign
Select item 907389	NM_004172.5(SLC1A3):c.921G>T (p.Met307Ile)	SLC1A3 (M307I +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 906452	NM_004172.5(SLC1A3):c.*733G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 906451	NM_004172.5(SLC1A3):c.*695G>C	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 906450	NM_004172.5(SLC1A3):c.*636G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 906449	NM_004172.5(SLC1A3):c.*516T>C	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 906385	NM_004172.5(SLC1A3):c.650T>C (p.Val217Ala)	SLC1A3 (V171A +1 more)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 6 +1 more	GConflicting classifications of pathogenicity
Select item 906384	NM_004172.5(SLC1A3):c.641T>C (p.Ile214Thr)	SLC1A3 (I214T +1 more)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 6	GUncertain significance
Select item 905872	NM_004172.5(SLC1A3):c.297T>G (p.Leu99=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	Episodic ataxia type 6	GUncertain significance
Select item 904899	NM_004172.4(SLC1A3):c.*2075A>G	SLC1A3	Single nucleotide variant	Episodic ataxia type 6	GBenign
Select item 904898	NM_004172.5(SLC1A3):c.*1554T>G	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 904897	NM_004172.5(SLC1A3):c.*1533G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 904836	NM_004172.5(SLC1A3):c.*440A>G	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 904835	NM_004172.5(SLC1A3):c.*439T>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 904124	NM_004172.5(SLC1A3):c.*1445A>T	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 904056	NM_004172.5(SLC1A3):c.1188C>T (p.Thr396=)	SLC1A3	Single nucleotide variant (synonymous variant)	Episodic ataxia type 6	GUncertain significance
Select item 903995	NM_004172.5(SLC1A3):c.-20C>A	SLC1A3	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 903994	NM_004172.5(SLC1A3):c.-205G>A	SLC1A3	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 809747	NM_004172.5(SLC1A3):c.1425-8G>C	SLC1A3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 809746	NM_004172.5(SLC1A3):c.625C>G (p.Leu209Val)	SLC1A3 (L209V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 805482	NM_004172.5(SLC1A3):c.68G>A (p.Arg23His)	SLC1A3 (R23H)	Single nucleotide variant (missense variant)	Episodic ataxia type 6 +1 more	GBenign/Likely benign
Select item 805481	NM_004172.5(SLC1A3):c.279G>A (p.Gln93=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 791028	NM_004172.5(SLC1A3):c.69T>A (p.Arg23=)	SLC1A3	Single nucleotide variant (synonymous variant)	Episodic ataxia type 6 +2 more	GBenign/Likely benign
Select item 746762	NM_004172.5(SLC1A3):c.231A>G (p.Glu77=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	Episodic ataxia type 6 +1 more	GBenign/Likely benign
Select item 744013	NM_004172.5(SLC1A3):c.1074C>T (p.Thr358=)	SLC1A3	Single nucleotide variant (synonymous variant)	Episodic ataxia type 6 +1 more	GBenign/Likely benign
Select item 709741	NM_004172.5(SLC1A3):c.342G>A (p.Lys114=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 426756	NM_004172.5(SLC1A3):c.510C>G (p.Phe170Leu)	SLC1A3 (F170L +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6 +1 more	GUncertain significance
Select item 353358	NM_004172.5(SLC1A3):c.*1747G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353357	NM_004172.5(SLC1A3):c.*1727A>G	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353356	NM_004172.5(SLC1A3):c.*1656G>C	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6 +1 more	GBenign
Select item 353355	NM_004172.5(SLC1A3):c.*1605T>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 353354	NM_004172.5(SLC1A3):c.*1485C>T	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6 +1 more	GBenign
Select item 353353	NM_004172.5(SLC1A3):c.*1415G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353352	NM_004172.5(SLC1A3):c.*1381A>G	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353351	NM_004172.5(SLC1A3):c.*1353A>G	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353349	NM_004172.5(SLC1A3):c.*1229A>G	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 353348	NM_004172.5(SLC1A3):c.*1206G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353347	NM_004172.5(SLC1A3):c.*1160T>C	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
Select item 353346	NM_004172.5(SLC1A3):c.*1081C>T	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353345	NM_004172.5(SLC1A3):c.*1050G>C	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353344	NM_004172.5(SLC1A3):c.*1022G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6 +1 more	GBenign
Select item 353343	NM_004172.5(SLC1A3):c.*981G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353341	NM_004172.5(SLC1A3):c.*761G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353340	NM_004172.5(SLC1A3):c.*694T>C	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353338	NM_004172.5(SLC1A3):c.*594G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353336	NM_004172.5(SLC1A3):c.*515A>C	SLC1A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 353335	NM_004172.5(SLC1A3):c.*465C>T	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353334	NM_004172.5(SLC1A3):c.*451A>G	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353333	NM_004172.5(SLC1A3):c.*313T>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353331	NM_004172.5(SLC1A3):c.*231G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6 +1 more	GBenign
Select item 353330	NM_004172.5(SLC1A3):c.*230C>T	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353328	NM_004172.5(SLC1A3):c.*133A>G	SLC1A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 353327	NM_004172.5(SLC1A3):c.*95G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6	GBenign
Select item 353326	NM_004172.5(SLC1A3):c.*33G>A	SLC1A3	Single nucleotide variant (3 prime UTR variant)	Episodic ataxia type 6 +1 more	GBenign
Select item 353325	NM_004172.5(SLC1A3):c.1342C>T (p.Leu448=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 353324	NM_004172.5(SLC1A3):c.1284A>C (p.Thr428=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353323	NM_004172.5(SLC1A3):c.1269C>T (p.Phe423=)	SLC1A3	Single nucleotide variant (synonymous variant)	Episodic ataxia type 6	GUncertain significance
Select item 353322	NM_004172.5(SLC1A3):c.1167C>T (p.Phe389=)	SLC1A3	Single nucleotide variant (synonymous variant)	Episodic ataxia type 6	GUncertain significance
Select item 353321	NM_004172.5(SLC1A3):c.1154G>A (p.Arg385His)	SLC1A3 (R385H +2 more)	Single nucleotide variant (missense variant)	Spastic ataxia +2 more	GBenign/Likely benign
Select item 353320	NM_004172.5(SLC1A3):c.985G>A (p.Ala329Thr)	SLC1A3 (A329T +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6 +2 more	GConflicting classifications of pathogenicity
Select item 353319	NM_004172.5(SLC1A3):c.945C>T (p.Ala315=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 353318	NM_004172.5(SLC1A3):c.897G>C (p.Gly299=)	SLC1A3	Single nucleotide variant (synonymous variant)	Episodic ataxia type 6	GUncertain significance
Select item 353317	NM_004172.5(SLC1A3):c.860+9T>C	SLC1A3	Single nucleotide variant (intron variant)	Episodic ataxia type 6	GUncertain significance
Select item 353316	NM_004172.5(SLC1A3):c.825C>T (p.Asn275=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353315	NM_004172.5(SLC1A3):c.792G>A (p.Gly264=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 353314	NM_004172.5(SLC1A3):c.676C>G (p.Arg226Gly)	SLC1A3 (R226G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 353313	NM_004172.5(SLC1A3):c.601G>A (p.Val201Met)	SLC1A3 (V201M +1 more)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 6	GUncertain significance
Select item 353312	NM_004172.5(SLC1A3):c.374T>C (p.Val125Ala)	SLC1A3 (V125A +1 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6 +1 more	GUncertain significance
Select item 353311	NM_004172.5(SLC1A3):c.320-7C>T	SLC1A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 353310	NM_004172.5(SLC1A3):c.227G>A (p.Arg76Gln)	SLC1A3 (R76Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353309	NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys)	SLC1A3 (Y71C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 353308	NM_004172.5(SLC1A3):c.195A>T (p.Gly65=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	Episodic ataxia type 6 +2 more	GBenign
Select item 353307	NM_004172.5(SLC1A3):c.79C>T (p.Leu27Phe)	SLC1A3 (L27F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353306	NM_004172.5(SLC1A3):c.15T>C (p.Asn5=)	SLC1A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 284665	NM_004172.5(SLC1A3):c.1489T>C (p.Leu497=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 242994	NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln)	SLC1A3 (R454Q +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6 +2 more	GConflicting classifications of pathogenicity
Select item 195211	NM_004172.5(SLC1A3):c.28A>G (p.Lys10Glu)	SLC1A3 (K10E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 130326	NM_004172.5(SLC1A3):c.657G>C (p.Glu219Asp)	SLC1A3 (E219D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 9442	NM_004172.5(SLC1A3):c.556T>A (p.Cys186Ser)	SLC1A3 (C186S +1 more)	Single nucleotide variant (missense variant +1 more)	Episodic ataxia type 6	GPathogenic
Select item 9441	NM_004172.5(SLC1A3):c.869C>G (p.Pro290Arg)	SLC1A3 (P290R +2 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 6	GPathogenic

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Items: 99