SLC7A2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	ADAM28, ADAM7 +1103 more	Copy number gain	See cases	GPathogenic
Select item 146718	GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3	LOC126860290, LOC126860291 +687 more	Copy number gain	See cases	GPathogenic
Select item 59739	GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3	AGPAT5, ANGPT2 +471 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999981, LOC129999982 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MTUS1-DT, NAT1 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	LOC126860289, LOC126860290 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	LOC129999803, LOC129999804 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC129999922, LOC129999923 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000263, LOC130000264 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC113788274, LOC114827823 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	ADAM18, ADAM2 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	LOC132089594, LOC132089595 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	LOC130000231, LOC130000232 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC126860340, LOC126860341 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	LOC130000118, LOC130000119 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000005, LOC130000006 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC121740715, LOC124049166 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000093, LOC130000094 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC124153130, LOC124153131 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC130000259, LOC130000260 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999968, LOC129999969 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC130000066, LOC130000067 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000067, LOC130000068 +789 more	Copy number gain	See cases	GPathogenic
Select item 145968	GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3	ASAH1, ASAH1-AS1 +144 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	RHOBTB2, SCARA3 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59768	GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3	ASAH1, ASAH1-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 149248	GRCh38/hg38 8p22(chr8:17389229-17925178)x3	FGL1, LOC113788268 +19 more	Copy number gain	See cases	GLikely benign
Select item 2240528	NM_001370338.1(SLC7A2):c.-22-4477G>A	SLC7A2 (S6N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218589	NM_001370338.1(SLC7A2):c.-22-4454A>G	SLC7A2 (I14V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3059691	NM_001370338.1(SLC7A2):c.-22-4447G>A	SLC7A2 (R16Q)	Single nucleotide variant (missense variant +1 more)	SLC7A2-related condition	GBenign
Select item 3059575	NM_001370338.1(SLC7A2):c.-22-4412G>C	SLC7A2 (D28H)	Single nucleotide variant (missense variant +1 more)	SLC7A2-related condition	GBenign
Select item 2345176	NM_001370338.1(SLC7A2):c.-22-4407C>A	SLC7A2 (S29R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3059505	NM_001370338.1(SLC7A2):c.-22-4388_-22-4387insC	SLC7A2	Insertion (intron variant)	SLC7A2-related condition	GBenign
Select item 3058848	NM_001370338.1(SLC7A2):c.-22-4386A>C	SLC7A2	Single nucleotide variant (intron variant)	SLC7A2-related condition	GBenign
Select item 3039705	NM_001370338.1(SLC7A2):c.-19G>A	SLC7A2	Single nucleotide variant (5 prime UTR variant +1 more)	SLC7A2-related condition	GBenign
Select item 2541952	NM_001370338.1(SLC7A2):c.-11C>T	SLC7A2 (S37L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517681	NM_001370338.1(SLC7A2):c.-6G>A	SLC7A2 (V39I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558459	NM_001370338.1(SLC7A2):c.275G>A (p.Arg92His)	SLC7A2 (R132H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042141	NM_001370338.1(SLC7A2):c.313G>C (p.Val105Leu)	SLC7A2 (V105L +1 more)	Single nucleotide variant (missense variant)	SLC7A2-related condition	GBenign
Select item 2220450	NM_001370338.1(SLC7A2):c.368A>G (p.Tyr123Cys)	SLC7A2 (Y163C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611832	NM_001370338.1(SLC7A2):c.394A>G (p.Arg132Gly)	SLC7A2 (R132G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483003	NM_001370338.1(SLC7A2):c.424C>G (p.Leu142Val)	SLC7A2 (L142V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293616	NM_001370338.1(SLC7A2):c.455C>T (p.Thr152Ile)	SLC7A2 (T152I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319368	NM_001370338.1(SLC7A2):c.468G>A (p.Met156Ile)	SLC7A2 (M196I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548212	NM_001370338.1(SLC7A2):c.508G>T (p.Val170Leu)	SLC7A2 (V210L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3060185	NM_001370338.1(SLC7A2):c.533-4A>G	SLC7A2	Single nucleotide variant (intron variant)	SLC7A2-related condition	GBenign
Select item 2286036	NM_001370338.1(SLC7A2):c.612T>G (p.Phe204Leu)	SLC7A2 (F244L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510782	NM_001370338.1(SLC7A2):c.660T>G (p.Ile220Met)	SLC7A2 (I260M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395849	NM_001370338.1(SLC7A2):c.731A>T (p.Tyr244Phe)	SLC7A2 (Y244F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361419	NM_001370338.1(SLC7A2):c.764C>T (p.Thr255Met)	SLC7A2 (T255M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307351	NM_001370338.1(SLC7A2):c.800C>T (p.Ala267Val)	SLC7A2 (A267V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545925	NM_001370338.1(SLC7A2):c.943C>A (p.Pro315Thr)	SLC7A2 (P355T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403774	NM_001370338.1(SLC7A2):c.952C>G (p.Leu318Val)	SLC7A2 (L318V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313346	NM_001370338.1(SLC7A2):c.971C>T (p.Pro324Leu)	SLC7A2 (P324L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367573	NM_001370338.1(SLC7A2):c.1088T>C (p.Val363Ala)	SLC7A2 (V403A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255047	NM_001370338.1(SLC7A2):c.1103C>T (p.Ala368Val)	SLC7A2 (A368V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511539	NM_001370338.1(SLC7A2):c.1111G>A (p.Gly371Arg)	SLC7A2 (G411R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301427	NM_001370338.1(SLC7A2):c.1124A>T (p.Lys375Ile)	SLC7A2 (K375I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3060883	NM_001370338.1(SLC7A2):c.1127G>C (p.Cys376Ser)	SLC7A2 (C376S +1 more)	Single nucleotide variant (missense variant +1 more)	SLC7A2-related condition	GBenign
Select item 1801749	NM_001370338.1(SLC7A2):c.1195+360C>T	SLC7A2 (T390M +1 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 785244	NM_001370338.1(SLC7A2):c.1218C>T (p.Asp406=)	SLC7A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 592603	NM_001370338.1(SLC7A2):c.1267T>C (p.Ser423Pro)	SLC7A2 (S423P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2227793	NM_001370338.1(SLC7A2):c.1297A>G (p.Arg433Gly)	SLC7A2 (R433G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243957	NM_001370338.1(SLC7A2):c.1334G>A (p.Cys445Tyr)	SLC7A2 (C444Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2307976	NM_001370338.1(SLC7A2):c.1339C>A (p.Pro447Thr)	SLC7A2 (P447T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319046	NM_001370338.1(SLC7A2):c.1355T>A (p.Leu452Gln)	SLC7A2 (L451Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360045	NM_001370338.1(SLC7A2):c.1429C>T (p.Arg477Trp)	SLC7A2 (R476W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300644	NM_001370338.1(SLC7A2):c.1430G>A (p.Arg477Gln)	SLC7A2 (R517Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454886	NM_001370338.1(SLC7A2):c.1435C>T (p.Leu479Phe)	SLC7A2 (L519F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771421	NM_001370338.1(SLC7A2):c.1522C>T (p.Leu508=)	SLC7A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409151	NM_001370338.1(SLC7A2):c.1535C>G (p.Thr512Ser)	SLC7A2 (T552S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038473	NM_001370338.1(SLC7A2):c.1581C>T (p.Leu527=)	SLC7A2	Single nucleotide variant (synonymous variant)	SLC7A2-related condition	GBenign
Select item 3056766	NM_001370338.1(SLC7A2):c.1591G>A (p.Ala531Thr)	SLC7A2 (A530T +3 more)	Single nucleotide variant (missense variant)	SLC7A2-related condition	GBenign
Select item 778375	NM_001370338.1(SLC7A2):c.1713G>C (p.Val571=)	SLC7A2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2376968	NM_001370338.1(SLC7A2):c.1723T>A (p.Leu575Met)	SLC7A2 (L574M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289090	NM_001370338.1(SLC7A2):c.1811G>C (p.Arg604Thr)	SLC7A2 (R603T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333425	NM_001370338.1(SLC7A2):c.1847A>G (p.Asn616Ser)	SLC7A2 (N615S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491502	NM_001370338.1(SLC7A2):c.1872C>A (p.Asn624Lys)	SLC7A2 (N664K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604820	NM_001370338.1(SLC7A2):c.1882G>C (p.Ala628Pro)	SLC7A2 (A627P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044177	NM_001370338.1(SLC7A2):c.1924C>T (p.Pro642Ser)	SLC7A2 (P641S +3 more)	Single nucleotide variant (missense variant)	SLC7A2-related condition	GLikely benign
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic

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