ClinVar for Gene (Select 729025) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3442736	NM_001170798.1(SLC15A5):c.611C>G (p.Ala204Gly)	SLC15A5 (A204G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3442735	NM_001170798.1(SLC15A5):c.1258G>A (p.Gly420Arg)	SLC15A5 (G420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3442734	NM_001170798.1(SLC15A5):c.1372T>C (p.Phe458Leu)	SLC15A5 (F458L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3442732	NM_001170798.1(SLC15A5):c.886A>G (p.Ser296Gly)	SLC15A5 (S296G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3442731	NM_001170798.1(SLC15A5):c.322A>C (p.Asn108His)	SLC15A5 (N108H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3442730	NM_001170798.1(SLC15A5):c.778G>A (p.Gly260Arg)	SLC15A5 (G260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3442729	NM_001170798.1(SLC15A5):c.26C>T (p.Thr9Ile)	SLC15A5 (T9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3442728	NM_001170798.1(SLC15A5):c.1014C>A (p.Asn338Lys)	SLC15A5 (N338K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391852	GRCh37/hg19 12p13.2-11.1(chr12:10155706-34051988)x3	OVCH1, PDE3A +146 more	Copy number gain	not provided	GPathogenic
Select item 3391851	GRCh37/hg19 12p13.33-11.1(chr12:173787-34835837)x4	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 3318903	NM_001170798.1(SLC15A5):c.365C>A (p.Thr122Asn)	SLC15A5 (T122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318902	NM_001170798.1(SLC15A5):c.1243G>A (p.Glu415Lys)	SLC15A5 (E415K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163047	NM_001170798.1(SLC15A5):c.985G>C (p.Gly329Arg)	SLC15A5 (G329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163046	NM_001170798.1(SLC15A5):c.866A>G (p.Glu289Gly)	SLC15A5 (E289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163045	NM_001170798.1(SLC15A5):c.85G>A (p.Gly29Ser)	SLC15A5 (G29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163043	NM_001170798.1(SLC15A5):c.781G>T (p.Val261Leu)	SLC15A5 (V261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163042	NM_001170798.1(SLC15A5):c.776T>C (p.Val259Ala)	SLC15A5 (V259A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163041	NM_001170798.1(SLC15A5):c.769A>G (p.Thr257Ala)	SLC15A5 (T257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163040	NM_001170798.1(SLC15A5):c.610G>C (p.Ala204Pro)	SLC15A5 (A204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163039	NM_001170798.1(SLC15A5):c.565A>C (p.Thr189Pro)	SLC15A5 (T189P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163038	NM_001170798.1(SLC15A5):c.516C>G (p.Ile172Met)	SLC15A5 (I172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163037	NM_001170798.1(SLC15A5):c.505G>C (p.Val169Leu)	SLC15A5 (V169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163036	NM_001170798.1(SLC15A5):c.445A>C (p.Thr149Pro)	SLC15A5 (T149P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163035	NM_001170798.1(SLC15A5):c.145G>A (p.Val49Met)	SLC15A5 (V49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163034	NM_001170798.1(SLC15A5):c.1402A>G (p.Met468Val)	SLC15A5 (M468V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163033	NM_001170798.1(SLC15A5):c.1379C>A (p.Pro460Gln)	SLC15A5 (P460Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163032	NM_001170798.1(SLC15A5):c.1097T>C (p.Leu366Pro)	SLC15A5 (L366P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163031	NM_001170798.1(SLC15A5):c.1052T>C (p.Met351Thr)	SLC15A5 (M351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2604796	NM_001170798.1(SLC15A5):c.842C>G (p.Thr281Arg)	SLC15A5 (T281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549319	NM_001170798.1(SLC15A5):c.1675C>G (p.Leu559Val)	SLC15A5 (L559V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544987	NM_001170798.1(SLC15A5):c.80A>C (p.His27Pro)	SLC15A5 (H27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514248	NM_001170798.1(SLC15A5):c.145G>T (p.Val49Leu)	SLC15A5 (V49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482309	NM_001170798.1(SLC15A5):c.553G>A (p.Gly185Arg)	SLC15A5 (G185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472111	NM_001170798.1(SLC15A5):c.566C>T (p.Thr189Met)	SLC15A5 (T189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	PHC1, PIANP +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2393567	NM_001170798.1(SLC15A5):c.170T>G (p.Phe57Cys)	SLC15A5 (F57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370104	NM_001170798.1(SLC15A5):c.407A>C (p.Tyr136Ser)	SLC15A5 (Y136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364751	NM_001170798.1(SLC15A5):c.691A>C (p.Met231Leu)	SLC15A5 (M231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363031	NM_001170798.1(SLC15A5):c.724T>C (p.Tyr242His)	SLC15A5 (Y242H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355250	NM_001170798.1(SLC15A5):c.1117C>G (p.Leu373Val)	SLC15A5 (L373V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353894	NM_001170798.1(SLC15A5):c.775G>A (p.Val259Ile)	SLC15A5 (V259I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353667	NM_001170798.1(SLC15A5):c.440C>G (p.Pro147Arg)	SLC15A5 (P147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351838	NM_001170798.1(SLC15A5):c.1529T>G (p.Phe510Cys)	SLC15A5 (F510C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351320	NM_001170798.1(SLC15A5):c.142C>G (p.Leu48Val)	SLC15A5 (L48V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331678	NM_001170798.1(SLC15A5):c.694C>T (p.Leu232Phe)	SLC15A5 (L232F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323179	NM_001170798.1(SLC15A5):c.631A>C (p.Ile211Leu)	SLC15A5 (I211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319324	NM_001170798.1(SLC15A5):c.589T>C (p.Tyr197His)	SLC15A5 (Y197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315672	NM_001170798.1(SLC15A5):c.104A>T (p.His35Leu)	SLC15A5 (H35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307906	NM_001170798.1(SLC15A5):c.1457T>A (p.Val486Glu)	SLC15A5 (V486E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291618	NM_001170798.1(SLC15A5):c.1510A>G (p.Lys504Glu)	SLC15A5 (K504E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272083	NM_001170798.1(SLC15A5):c.1188G>T (p.Leu396Phe)	SLC15A5 (L396F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271225	NM_001170798.1(SLC15A5):c.109G>A (p.Val37Met)	SLC15A5 (V37M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265509	NM_001170798.1(SLC15A5):c.523C>G (p.Pro175Ala)	SLC15A5 (P175A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243756	NM_001170798.1(SLC15A5):c.1694T>G (p.Ile565Arg)	SLC15A5 (I565R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238885	NM_001170798.1(SLC15A5):c.700G>T (p.Ala234Ser)	SLC15A5 (A234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225280	NM_001170798.1(SLC15A5):c.808C>T (p.His270Tyr)	SLC15A5 (H270Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222330	NM_001170798.1(SLC15A5):c.917T>C (p.Phe306Ser)	SLC15A5 (F306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213914	NM_001170798.1(SLC15A5):c.230G>A (p.Cys77Tyr)	SLC15A5 (C77Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809077	GRCh37/hg19 12p12.3(chr12:15912116-16443995)x1	DERA, EPS8 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	CREBL2, DDX47 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 815509	GRCh37/hg19 12p12.3(chr12:16387870-16495385)x1	SLC15A5	Copy number loss	not provided	GLikely benign
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 689124	GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1	SMCO2, SOX5 +48 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	SLCO1B1, SMCO3 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563946	GRCh37/hg19 12p12.3(chr12:16069040-16509832)x1	MGST1, SLC15A5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563907	GRCh37/hg19 12p12.3(chr12:16416212-16550433)x1	MGST1, SLC15A5	Copy number loss	not provided	GLikely benign
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 395183	GRCh37/hg19 12p12.3(chr12:16347222-16369777)x1	SLC15A5	Copy number loss	See cases	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 157242	Single allele	SLC15A5	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153896	GRCh38/hg38 12p12.3(chr12:15912444-16361256)x1	DERA, LOC110120934 +6 more	Copy number loss	See cases	GUncertain significance
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 153118	GRCh38/hg38 12p12.3(chr12:15964371-16339179)x1	DERA, LOC110120934 +2 more	Copy number loss	See cases	GUncertain significance
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146315	GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1	ABCC9, AEBP2 +101 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58987	GRCh38/hg38 12p12.3(chr12:16019165-17579501)x1	DERA, LMO3 +20 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 99