SLC13A2[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign
Select item 2567000	NM_003984.4(SLC13A2):c.13T>C (p.Trp5Arg)	SLC13A2 (W5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412030	NM_003984.4(SLC13A2):c.19G>A (p.Ala7Thr)	SLC13A2 (A7T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322117	NM_003984.4(SLC13A2):c.91G>A (p.Val31Ile)	SLC13A2 (V31I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2617407	NM_003984.4(SLC13A2):c.226T>C (p.Ser76Pro)	SLC13A2 (S32P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318867	NM_003984.4(SLC13A2):c.232-51G>A	SLC13A2 (V110M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3318869	NM_003984.4(SLC13A2):c.250A>G (p.Lys84Glu)	SLC13A2 (K133E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473184	NM_003984.4(SLC13A2):c.295G>A (p.Ala99Thr)	SLC13A2 (A99T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318873	NM_003984.4(SLC13A2):c.323G>T (p.Arg108Leu)	SLC13A2 (R37L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313375	NM_003984.4(SLC13A2):c.359G>A (p.Arg120Gln)	SLC13A2 (R169Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162951	NM_003984.4(SLC13A2):c.391G>C (p.Val131Leu)	SLC13A2 (V60L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404505	NM_003984.4(SLC13A2):c.410T>C (p.Met137Thr)	SLC13A2 (M93T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318866	NM_003984.4(SLC13A2):c.485C>T (p.Ser162Leu)	SLC13A2 (S91L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162952	NM_003984.4(SLC13A2):c.519C>A (p.Asn173Lys)	SLC13A2 (N102K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600946	NM_003984.4(SLC13A2):c.545C>A (p.Pro182Gln)	SLC13A2 (P111Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464811	NM_003984.4(SLC13A2):c.599C>T (p.Thr200Met)	SLC13A2 (T129M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321463	NM_003984.4(SLC13A2):c.607T>G (p.Ser203Ala)	SLC13A2 (S132A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215740	NM_003984.4(SLC13A2):c.778G>A (p.Val260Met)	SLC13A2 (V189M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246505	NM_003984.4(SLC13A2):c.790G>A (p.Ala264Thr)	SLC13A2 (A264T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388981	NM_003984.4(SLC13A2):c.826A>G (p.Ile276Val)	SLC13A2 (I276V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276282	NM_003984.4(SLC13A2):c.883C>T (p.Arg295Trp)	SLC13A2 (R251W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338799	NM_003984.4(SLC13A2):c.893T>C (p.Phe298Ser)	SLC13A2 (F227S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351174	NM_003984.4(SLC13A2):c.904G>C (p.Glu302Gln)	SLC13A2 (E351Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603935	NM_003984.4(SLC13A2):c.952G>A (p.Glu318Lys)	SLC13A2 (E247K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603394	NM_003984.4(SLC13A2):c.959G>A (p.Arg320Lys)	SLC13A2 (R276K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318868	NM_003984.4(SLC13A2):c.1043C>T (p.Pro348Leu)	SLC13A2 (P277L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162948	NM_003984.4(SLC13A2):c.1112G>A (p.Gly371Glu)	SLC13A2 (G327E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257342	NM_003984.4(SLC13A2):c.1180G>T (p.Asp394Tyr)	SLC13A2 (D350Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284157	NM_003984.4(SLC13A2):c.1253C>T (p.Pro418Leu)	SLC13A2 (P374L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64484	NM_003984.4(SLC13A2):c.1326G>A (p.Glu442=)	SLC13A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3318871	NM_003984.4(SLC13A2):c.1360G>A (p.Val454Met)	SLC13A2 (V383M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 64485	NM_003984.4(SLC13A2):c.1370C>T (p.Pro457Leu)	SLC13A2 (P506L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2339511	NM_003984.4(SLC13A2):c.1471G>A (p.Ala491Thr)	SLC13A2 (A540T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486795	NM_003984.4(SLC13A2):c.1502T>A (p.Val501Asp)	SLC13A2 (V430D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162949	NM_003984.4(SLC13A2):c.1540A>C (p.Met514Leu)	SLC13A2 (M470L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623623	NM_003984.4(SLC13A2):c.1553C>T (p.Ala518Val)	SLC13A2 (A518V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467148	NM_003984.4(SLC13A2):c.1613G>A (p.Arg538Gln)	SLC13A2 (R467Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488282	NM_003984.4(SLC13A2):c.1697A>T (p.His566Leu)	SLC13A2 (H522L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318872	NM_003984.4(SLC13A2):c.1753G>A (p.Ala585Thr)	SLC13A2 (A585T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162950	NM_003984.4(SLC13A2):c.1754C>T (p.Ala585Val)	SLC13A2 (A541V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 50