SLC1A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 144780	GRCh38/hg38 5p13.2(chr5:36570605-37060917)x3	LOC114004393, LOC126807361 +13 more	Copy number gain	See cases	GUncertain significance
Select item 353304	NM_004172.4(SLC1A3):c.-449C>T	SLC1A3	Single nucleotide variant	Hereditary episodic ataxia	GLikely benign
Select item 353305	NM_004172.4(SLC1A3):c.-280C>T	SLC1A3	Single nucleotide variant	Hereditary episodic ataxia	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 903995	NM_004172.5(SLC1A3):c.-20C>A	SLC1A3	Single nucleotide variant (5 prime UTR variant)	Episodic ataxia type 6	GUncertain significance
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 2312346	NM_004172.5(SLC1A3):c.22G>C (p.Glu8Gln)	SLC1A3 (E8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 448407	NM_004172.5(SLC1A3):c.36G>A (p.Gly12=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2381170	NM_004172.5(SLC1A3):c.48G>C (p.Glu16Asp)	SLC1A3 (E16D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2559461	NM_004172.5(SLC1A3):c.70A>G (p.Lys24Glu)	SLC1A3 (K24E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 450429	NM_004172.5(SLC1A3):c.73C>T (p.Arg25Cys)	SLC1A3 (R25C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341626	NM_004172.5(SLC1A3):c.74G>T (p.Arg25Leu)	SLC1A3 (R25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2662108	NM_004172.5(SLC1A3):c.84G>T (p.Leu28Phe)	SLC1A3 (L28F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961377	NM_004172.5(SLC1A3):c.85G>T (p.Ala29Ser)	SLC1A3 (A29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865950	NM_004172.5(SLC1A3):c.94A>C (p.Lys32Gln)	SLC1A3 (K32Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 741727	NM_004172.5(SLC1A3):c.102G>A (p.Gln34=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2655406	NM_004172.5(SLC1A3):c.109A>C (p.Thr37Pro)	SLC1A3 (T37P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635090	NM_004172.5(SLC1A3):c.139C>G (p.Arg47Gly)	SLC1A3 (R47G)	Single nucleotide variant (missense variant)	SLC1A3-related disorder	GUncertain significance
Select item 3011490	NM_004172.5(SLC1A3):c.155T>C (p.Leu52Pro)	SLC1A3 (L52P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943847	NM_004172.5(SLC1A3):c.156G>A (p.Leu52=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 586619	NM_004172.5(SLC1A3):c.168C>T (p.Thr56=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3341676	NM_004172.5(SLC1A3):c.182-9_182-8dup	SLC1A3	Duplication (intron variant)	not provided	GLikely benign
Select item 2126248	NM_004172.5(SLC1A3):c.182-20T>C	SLC1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128224	NM_004172.5(SLC1A3):c.182-6dup	SLC1A3	Duplication (intron variant)	not provided	GLikely benign
Select item 586620	NM_004172.5(SLC1A3):c.182-8T>C	SLC1A3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1701474	NM_004172.5(SLC1A3):c.188T>C (p.Ile63Thr)	SLC1A3 (I63T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1700413	NM_004172.5(SLC1A3):c.190C>T (p.Leu64Phe)	SLC1A3 (L64F)	Single nucleotide variant (missense variant +1 more)	not provided	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 2124080	NM_004172.5(SLC1A3):c.202del (p.Leu68fs)	SLC1A3 (L68fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1806868	NM_004172.5(SLC1A3):c.206G>A (p.Arg69Gln)	SLC1A3 (R69Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342913	NM_004172.5(SLC1A3):c.209C>T (p.Pro70Leu)	SLC1A3 (P70L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1899766	NM_004172.5(SLC1A3):c.210A>G (p.Pro70=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2413260	NM_004172.5(SLC1A3):c.221G>A (p.Ser74Asn)	SLC1A3 (S74N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2605620	NM_004172.5(SLC1A3):c.226C>T (p.Arg76Trp)	SLC1A3 (R76W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 1800700	NM_004172.5(SLC1A3):c.251C>T (p.Pro84Leu)	SLC1A3 (P84L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 994969	NM_004172.5(SLC1A3):c.258A>G (p.Glu86=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 1256121	NM_004172.5(SLC1A3):c.291A>G (p.Leu97=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
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 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 2824485	NM_004172.5(SLC1A3):c.310C>G (p.Leu104Val)	SLC1A3 (L104V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 448406	NM_004172.5(SLC1A3):c.319+3A>G	SLC1A3	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1939465	NM_004172.5(SLC1A3):c.319+16G>A	SLC1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662502	NM_004172.5(SLC1A3):c.319+18T>A	SLC1A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293137	NM_004172.5(SLC1A3):c.320-126T>C	SLC1A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1955096	NM_004172.5(SLC1A3):c.320-19T>G	SLC1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1967310	NM_004172.5(SLC1A3):c.320-9C>T	SLC1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 353311	NM_004172.5(SLC1A3):c.320-7C>T	SLC1A3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1612689	NM_004172.5(SLC1A3):c.320-4C>A	SLC1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1806866	NM_004172.5(SLC1A3):c.322A>G (p.Met108Val)	SLC1A3 (M108V +1 more)	Single nucleotide variant (missense variant)	not provided	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 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 2750223	NM_004172.5(SLC1A3):c.349G>A (p.Gly117Arg)	SLC1A3 (G117R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684385	NM_004172.5(SLC1A3):c.363G>T (p.Met121Ile)	SLC1A3 (M121I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712195	NM_004172.5(SLC1A3):c.370G>A (p.Val124Ile)	SLC1A3 (V124I +1 more)	Single nucleotide variant (missense variant)	not provided	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 2232143	NM_004172.5(SLC1A3):c.389C>G (p.Thr130Ser)	SLC1A3 (T84S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2957770	NM_004172.5(SLC1A3):c.396C>T (p.Ile132=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973063	NM_004172.5(SLC1A3):c.397A>G (p.Ile133Val)	SLC1A3 (I87V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3163265	NM_004172.5(SLC1A3):c.398T>C (p.Ile133Thr)	SLC1A3 (I133T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305767	NM_004172.5(SLC1A3):c.410T>C (p.Ile137Thr)	SLC1A3 (I137T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695977	NM_004172.5(SLC1A3):c.433A>T (p.Ile145Phe)	SLC1A3 (I145F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800987	NM_004172.5(SLC1A3):c.436C>T (p.His146Tyr)	SLC1A3 (H100Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016812	NM_004172.5(SLC1A3):c.449G>A (p.Gly150Asp)	SLC1A3 (G104D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806869	NM_004172.5(SLC1A3):c.459A>T (p.Glu153Asp)	SLC1A3 (E107D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2298517	NM_004172.5(SLC1A3):c.467A>G (p.His156Arg)	SLC1A3 (H110R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3369648	NM_004172.5(SLC1A3):c.470G>A (p.Arg157Lys)	SLC1A3 (R111K +1 more)	Single nucleotide variant (missense variant)	not provided	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 2078726	NM_004172.5(SLC1A3):c.487C>T (p.Arg163Ter)	SLC1A3 (R163* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 871190	NM_004172.5(SLC1A3):c.488G>A (p.Arg163Gln)	SLC1A3 (R117Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319026	NM_004172.5(SLC1A3):c.497C>T (p.Ala166Val)	SLC1A3 (A120V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2955760	NM_004172.5(SLC1A3):c.498T>C (p.Ala166=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1964746	NM_004172.5(SLC1A3):c.524+9T>C	SLC1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898174	NM_004172.5(SLC1A3):c.524+18C>T	SLC1A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2991204	NM_004172.5(SLC1A3):c.524+19G>A	SLC1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2313709	NM_004172.5(SLC1A3):c.532T>C (p.Phe178Leu)	SLC1A3 (F178L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 994970	NM_004172.5(SLC1A3):c.546G>A (p.Leu182=)	SLC1A3	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
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 2558226	NM_004172.5(SLC1A3):c.559T>C (p.Phe187Leu)	SLC1A3 (F187L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1256122	NM_004172.5(SLC1A3):c.560T>A (p.Phe187Tyr)	SLC1A3 (F141Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971857	NM_004172.5(SLC1A3):c.568-19_568-17del	SLC1A3	Deletion (intron variant)	not provided	GLikely benign
Select item 2081867	NM_004172.5(SLC1A3):c.568-11T>C	SLC1A3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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