ClinVar for Gene (Select 6506) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371735	NM_004171.4(SLC1A2):c.1013T>A (p.Val338Glu)	SLC1A2 (V329E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364691	NM_004171.4(SLC1A2):c.1724A>T (p.Ter575Leu)	SLC1A2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 3363685	NM_004171.4(SLC1A2):c.364G>T (p.Val122Leu)	SLC1A2 (V113L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362763	NM_004171.4(SLC1A2):c.1493A>G (p.Lys498Arg)	SLC1A2 (K489R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GLikely benign
Select item 3360597	NM_004171.4(SLC1A2):c.1168C>A (p.Leu390Ile)	SLC1A2 (L381I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342949	NM_004171.4(SLC1A2):c.1588A>G (p.Arg530Gly)	SLC1A2 (R521G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338423	Single allele	APIP, CD44 +74 more	Duplication	11p13 microduplication syndrome	GUncertain significance
Select item 3244753	NC_000011.9:g.(?_35282441)_(35287325_?)del	SLC1A2	Deletion	not provided	GUncertain significance
Select item 3163264	NM_004171.4(SLC1A2):c.628G>A (p.Ala210Thr)	SLC1A2 (A201T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163263	NM_004171.4(SLC1A2):c.1228A>G (p.Ile410Val)	SLC1A2 (I410V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036982	NM_004171.4(SLC1A2):c.1422-10_1422-9insCC	SLC1A2	Insertion (intron variant)	SLC1A2-related disorder	GLikely benign
Select item 3036260	NM_004171.4(SLC1A2):c.1422-3C>T	SLC1A2	Single nucleotide variant (intron variant)	SLC1A2-related disorder	GLikely benign
Select item 3021369	NM_004171.4(SLC1A2):c.145C>G (p.Leu49Val)	SLC1A2 (L40V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017727	NM_004171.4(SLC1A2):c.561+11G>A	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014773	NM_004171.4(SLC1A2):c.267A>C (p.Leu89=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013356	NM_004171.4(SLC1A2):c.63T>C (p.Ser21=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012612	NM_004171.4(SLC1A2):c.1610G>A (p.Cys537Tyr)	SLC1A2 (C528Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3008507	NM_004171.4(SLC1A2):c.1092-12_1092-11del	SLC1A2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3000286	NM_004171.4(SLC1A2):c.730+11T>A	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998112	NM_004171.4(SLC1A2):c.247G>C (p.Asp83His)	SLC1A2 (D83H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978464	NM_004171.4(SLC1A2):c.400C>A (p.Leu134Met)	SLC1A2 (L125M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974659	NM_004171.4(SLC1A2):c.672G>A (p.Glu224=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973710	NM_004171.4(SLC1A2):c.1091+17A>G	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960021	NM_004171.4(SLC1A2):c.537C>T (p.Asn179=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958020	NM_004171.4(SLC1A2):c.1653+5A>G	SLC1A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2919841	NM_004171.4(SLC1A2):c.1719G>A (p.Glu573=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919452	NM_004171.4(SLC1A2):c.1574A>C (p.Asp525Ala)	SLC1A2 (D525A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2912352	NM_004171.4(SLC1A2):c.1351C>G (p.Leu451Val)	SLC1A2 (L442V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910255	NM_004171.4(SLC1A2):c.432A>G (p.Pro144=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909988	NM_004171.4(SLC1A2):c.1550C>G (p.Thr517Ser)	SLC1A2 (T517S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908553	NM_004171.4(SLC1A2):c.311-14T>A	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907794	NM_004171.4(SLC1A2):c.1612G>A (p.Val538Ile)	SLC1A2 (V529I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904185	NM_004171.4(SLC1A2):c.562-2A>G	SLC1A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2900409	NM_004171.4(SLC1A2):c.1493A>C (p.Lys498Thr)	SLC1A2 (K498T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2894333	NM_004171.4(SLC1A2):c.2T>C (p.Met1Thr)	SLC1A2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2892202	NM_004171.4(SLC1A2):c.668C>T (p.Pro223Leu)	SLC1A2 (P214L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888824	NM_004171.4(SLC1A2):c.1224C>T (p.Ala408=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887581	NM_004171.4(SLC1A2):c.40G>A (p.Val14Met)	SLC1A2 (V5M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2885696	NM_004171.4(SLC1A2):c.1565T>C (p.Ile522Thr)	SLC1A2 (I513T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884646	NM_004171.4(SLC1A2):c.1091+7A>G	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883074	NM_004171.4(SLC1A2):c.1507A>G (p.Thr503Ala)	SLC1A2 (T503A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866802	NM_004171.4(SLC1A2):c.1126G>C (p.Glu376Gln)	SLC1A2 (E367Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857424	NM_004171.4(SLC1A2):c.554T>G (p.Phe185Cys)	SLC1A2 (F185C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2846660	NM_004171.4(SLC1A2):c.730+15G>C	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2836528	NM_004171.4(SLC1A2):c.1440A>G (p.Ser480=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828186	NM_004171.4(SLC1A2):c.157+13A>C	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828119	NM_004171.4(SLC1A2):c.597A>G (p.Pro199=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827756	NM_004171.4(SLC1A2):c.1523A>G (p.His508Arg)	SLC1A2 (H508R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822725	NM_004171.4(SLC1A2):c.1473G>T (p.Gly491=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819884	NM_004171.4(SLC1A2):c.157+19C>G	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817610	NM_004171.4(SLC1A2):c.1431G>A (p.Met477Ile)	SLC1A2 (M468I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2816413	NM_004171.4(SLC1A2):c.311-5T>C	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807936	NM_004171.4(SLC1A2):c.479A>T (p.Asp160Val)	SLC1A2 (D160V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794258	NM_004171.4(SLC1A2):c.588G>A (p.Leu196=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786894	NM_004171.4(SLC1A2):c.18-2A>C	SLC1A2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2785836	NM_004171.4(SLC1A2):c.861C>G (p.Tyr287Ter)	SLC1A2 (Y287* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2784391	NM_004171.4(SLC1A2):c.731-9_731-8delinsGC	SLC1A2	Indel (intron variant)	not provided	GUncertain significance
Select item 2780918	NM_004171.4(SLC1A2):c.158-11dup	SLC1A2	Duplication (intron variant)	not provided	GBenign
Select item 2778056	NM_004171.4(SLC1A2):c.157+9C>T	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772636	NM_004171.4(SLC1A2):c.18-18C>T	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769048	NM_004171.4(SLC1A2):c.1510A>G (p.Ile504Val)	SLC1A2 (I504V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767098	NM_004171.4(SLC1A2):c.1161A>G (p.Arg387=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766165	NM_004171.4(SLC1A2):c.18-14C>T	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765798	NM_004171.4(SLC1A2):c.1135C>T (p.Leu379=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762850	NM_004171.4(SLC1A2):c.1359T>A (p.Ile453=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749888	NM_004171.4(SLC1A2):c.680A>C (p.Lys227Thr)	SLC1A2 (K218T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742873	NM_004171.4(SLC1A2):c.1600T>C (p.Ser534Pro)	SLC1A2 (S534P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742439	NM_004171.4(SLC1A2):c.1640T>C (p.Val547Ala)	SLC1A2 (V538A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739159	NM_004171.4(SLC1A2):c.221T>C (p.Val74Ala)	SLC1A2 (V74A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2737331	NM_004171.4(SLC1A2):c.34A>G (p.Lys12Glu)	SLC1A2 (K3E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733679	NM_004171.4(SLC1A2):c.1032C>A (p.Pro344=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729442	NM_004171.4(SLC1A2):c.17+17C>A	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728748	NM_004171.4(SLC1A2):c.762C>T (p.Ile254=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725864	NM_004171.4(SLC1A2):c.149C>T (p.Thr50Met)	SLC1A2 (T41M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723184	NM_004171.4(SLC1A2):c.453G>A (p.Lys151=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718926	NM_004171.4(SLC1A2):c.106_111del (p.Arg36_Leu37del)	SLC1A2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2714199	NM_004171.4(SLC1A2):c.32C>T (p.Pro11Leu)	SLC1A2 (P11L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714048	NM_004171.4(SLC1A2):c.576G>A (p.Thr192=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713541	NM_004171.4(SLC1A2):c.1091+14G>T	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711327	NM_004171.4(SLC1A2):c.1062T>C (p.Ala354=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710628	NM_004171.4(SLC1A2):c.1052T>G (p.Ile351Ser)	SLC1A2 (I351S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709104	NM_004171.4(SLC1A2):c.1225G>T (p.Ala409Ser)	SLC1A2 (A409S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707648	NM_004171.4(SLC1A2):c.986G>C (p.Gly329Ala)	SLC1A2 (G320A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704719	NM_004171.4(SLC1A2):c.683T>C (p.Met228Thr)	SLC1A2 (M219T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2703057	NM_004171.4(SLC1A2):c.158-4T>C	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702653	NM_004171.4(SLC1A2):c.1121G>T (p.Cys374Phe)	SLC1A2 (C365F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700506	NM_004171.4(SLC1A2):c.1373_1374delinsAA (p.Gly458Glu)	SLC1A2 (G449E +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2700250	NM_004171.4(SLC1A2):c.654T>G (p.Thr218=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693147	NM_004171.4(SLC1A2):c.150G>C (p.Thr50=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689999	NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)	SLC1A2 (S525Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GUncertain significance
Select item 2641722	NM_004171.4(SLC1A2):c.159T>A (p.Gly53=)	SLC1A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641721	NM_004171.4(SLC1A2):c.1653+24C>T	SLC1A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2637495	NM_004171.4(SLC1A2):c.1095T>C (p.Ala365=)	SLC1A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2637438	NM_004171.4(SLC1A2):c.508G>A (p.Asp170Asn)	SLC1A2 (D161N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630308	NM_004171.4(SLC1A2):c.951G>A (p.Met317Ile)	SLC1A2 (M308I +1 more)	Single nucleotide variant (missense variant)	SLC1A2-related disorder	GUncertain significance
Select item 2622303	NM_004171.4(SLC1A2):c.566A>G (p.Gln189Arg)	SLC1A2 (Q189R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585143	NM_004171.4(SLC1A2):c.1003A>G (p.Ile335Val)	SLC1A2 (I335V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GUncertain significance
Select item 2505831	NM_004171.4(SLC1A2):c.760A>T (p.Ile254Phe)	SLC1A2 (I245F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504085	NM_004171.4(SLC1A2):c.1625A>G (p.His542Arg)	SLC1A2 (H533R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GLikely pathogenic
Select item 2504084	NM_004171.4(SLC1A2):c.1295C>A (p.Ala432Asp)	SLC1A2 (A423D +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GUncertain significance

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