SLC13A1[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 59652	GRCh38/hg38 7q31.32(chr7:122563002-123338792)x3	CADPS2, LOC129999213 +10 more	Copy number gain	See cases	GUncertain significance
Select item 145640	GRCh38/hg38 7q31.32(chr7:122772439-123346205)x3	LOC129999214, LOC129999215 +8 more	Copy number gain	See cases	GLikely benign
Select item 2356161	NM_022444.4(SLC13A1):c.1751C>T (p.Ser584Leu)	SLC13A1 (S584L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341016	NM_022444.4(SLC13A1):c.1727T>A (p.Met576Lys)	SLC13A1 (M452K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1288300	NM_022444.4(SLC13A1):c.1650+13dup	SLC13A1	Duplication (intron variant)	not provided	GBenign
Select item 2516679	NM_022444.4(SLC13A1):c.1613T>C (p.Ile538Thr)	SLC13A1 (I538T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261741	NM_022444.4(SLC13A1):c.1589C>A (p.Pro530Gln)	SLC13A1 (P530Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224114	NM_022444.4(SLC13A1):c.1481T>C (p.Ile494Thr)	SLC13A1 (I370T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329969	NM_022444.4(SLC13A1):c.1450T>G (p.Leu484Val)	SLC13A1 (L484V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591785	NM_022444.4(SLC13A1):c.1405C>T (p.Pro469Ser)	SLC13A1 (P345S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517246	NM_022444.4(SLC13A1):c.1343G>A (p.Gly448Asp)	SLC13A1 (G324D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474770	NM_022444.4(SLC13A1):c.1319G>T (p.Gly440Val)	SLC13A1 (G316V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390335	NM_022444.4(SLC13A1):c.1207A>T (p.Thr403Ser)	SLC13A1 (T279S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331235	NM_022444.4(SLC13A1):c.1030A>T (p.Arg344Trp)	SLC13A1 (R220W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305350	NM_022444.4(SLC13A1):c.983C>T (p.Ala328Val)	SLC13A1 (A204V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482024	NM_022444.4(SLC13A1):c.961A>G (p.Thr321Ala)	SLC13A1 (T321A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208971	NM_022444.4(SLC13A1):c.838A>G (p.Asn280Asp)	SLC13A1 (N280D +1 more)	Single nucleotide variant (missense variant)	Abnormality of neuronal migration	GBenign
Select item 2400997	NM_022444.4(SLC13A1):c.830G>A (p.Arg277His)	SLC13A1 (R277H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2326660	NM_022444.4(SLC13A1):c.799G>A (p.Glu267Lys)	SLC13A1 (E143K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768197	NM_022444.4(SLC13A1):c.719C>T (p.Thr240Met)	SLC13A1 (T116M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787318	NM_022444.4(SLC13A1):c.614A>G (p.Tyr205Cys)	SLC13A1 (Y205C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2253610	NM_022444.4(SLC13A1):c.523G>A (p.Gly175Arg)	SLC13A1 (G175R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2657971	NM_022444.4(SLC13A1):c.453G>A (p.Ala151=)	SLC13A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2520129	NM_022444.4(SLC13A1):c.452C>T (p.Ala151Val)	SLC13A1 (A151V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2516680	NM_022444.4(SLC13A1):c.430G>C (p.Ala144Pro)	SLC13A1 (A144P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520599	NM_022444.4(SLC13A1):c.392C>T (p.Thr131Ile)	SLC13A1 (T131I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 208972	NM_022444.4(SLC13A1):c.277A>C (p.Ile93Leu)	SLC13A1 (I93L)	Single nucleotide variant (5 prime UTR variant +1 more)	Abnormality of neuronal migration	GBenign
Select item 2553111	NM_022444.4(SLC13A1):c.194T>G (p.Met65Arg)	SLC13A1 (M65R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554359	NM_022444.4(SLC13A1):c.100G>A (p.Glu34Lys)	SLC13A1 (E34K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2657972	NM_022444.4(SLC13A1):c.15T>C (p.Ser5=)	SLC13A1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	POT1, PTPRZ1 +35 more	Copy number loss	Short stature +2 more	GPathogenic
Select item 815030	GRCh37/hg19 7q31.32(chr7:122794170-122847696)x1	SLC13A1	Copy number loss	not provided	GUncertain significance
Select item 815029	GRCh37/hg19 7q31.32(chr7:122637357-123574829)x3	SPAM1, HYAL4 +6 more	Copy number gain	not provided	GLikely benign
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687212	GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1	AASS, AHCYL2 +46 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442333	GRCh37/hg19 7q31.32(chr7:122360323-123036250)x3	CADPS2, SLC13A1 +1 more	Copy number gain	See cases	GLikely benign
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic

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Items: 56