ClinVar for Gene (Select 57121) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3291157	NM_020400.6(LPAR5):c.287C>T (p.Thr96Met)	LPAR5 (T96M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291156	NM_020400.6(LPAR5):c.605T>A (p.Leu202Gln)	LPAR5 (L202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244331	NC_000012.11:g.(?_6438478)_(6950528_?)dup	ACRBP, CD27 +23 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 3119723	NM_020400.6(LPAR5):c.985C>G (p.Leu329Val)	LPAR5 (L329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119722	NM_020400.6(LPAR5):c.976C>T (p.Arg326Trp)	LPAR5 (R326W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119721	NM_020400.6(LPAR5):c.904G>A (p.Glu302Lys)	LPAR5 (E302K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119720	NM_020400.6(LPAR5):c.745C>T (p.Pro249Ser)	LPAR5 (P249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119719	NM_020400.6(LPAR5):c.416G>A (p.Arg139Gln)	LPAR5 (R139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119718	NM_020400.6(LPAR5):c.407G>A (p.Arg136His)	LPAR5 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3119717	NM_020400.6(LPAR5):c.166G>A (p.Val56Met)	LPAR5 (V56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063252	GRCh37/hg19 12p13.31(chr12:6691292-6992208)x3	ACRBP, CD4 +16 more	Copy number gain	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 2619932	NM_020400.6(LPAR5):c.823G>C (p.Val275Leu)	LPAR5 (V275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608202	NM_020400.6(LPAR5):c.904G>C (p.Glu302Gln)	LPAR5 (E302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589893	NM_020400.6(LPAR5):c.141C>A (p.Phe47Leu)	LPAR5 (F47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549598	NM_020400.6(LPAR5):c.805G>A (p.Val269Met)	LPAR5 (V269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548348	NM_020400.6(LPAR5):c.49G>C (p.Asp17His)	LPAR5 (D17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544792	NM_020400.6(LPAR5):c.829G>A (p.Gly277Arg)	LPAR5 (G277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522960	NM_020400.6(LPAR5):c.482G>C (p.Arg161Thr)	LPAR5 (R161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513604	NM_020400.6(LPAR5):c.173G>A (p.Ser58Asn)	LPAR5 (S58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475277	NM_020400.6(LPAR5):c.530A>G (p.Glu177Gly)	LPAR5 (E177G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2403007	NM_020400.6(LPAR5):c.68G>A (p.Arg23His)	LPAR5 (R23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399110	NM_020400.6(LPAR5):c.560G>C (p.Arg187Thr)	LPAR5 (R187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346143	NM_020400.6(LPAR5):c.697G>A (p.Val233Met)	LPAR5 (V233M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331667	NM_020400.6(LPAR5):c.592C>G (p.Leu198Val)	LPAR5 (L198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313396	NM_020400.6(LPAR5):c.550T>C (p.Trp184Arg)	LPAR5 (W184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234179	NM_020400.6(LPAR5):c.809C>T (p.Pro270Leu)	LPAR5 (P270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226569	NM_020400.6(LPAR5):c.457G>A (p.Ala153Thr)	LPAR5 (A153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225683	NM_020400.6(LPAR5):c.730C>G (p.Leu244Val)	LPAR5 (L244V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225573	NM_020400.6(LPAR5):c.634G>C (p.Gly212Arg)	LPAR5 (G212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212066	NM_020400.6(LPAR5):c.400C>T (p.Arg134Trp)	LPAR5 (R134W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527682	GRCh37/hg19 12p13.31(chr12:6530146-7376398)	ACRBP, ATN1 +40 more	Copy number gain	not specified	GUncertain significance
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 1473612	NC_000012.11:g.(?_6438478)_(8756953_?)dup	ACRBP, ACSM4 +64 more	Duplication	not provided	GUncertain significance
Select item 1409561	NC_000012.11:g.(?_6438478)_(8248686_?)dup	PEX5, PHB2 +57 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	CLEC4A, LRRC23 +106 more	Copy number gain	Single transverse palmar crease +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1056361	NC_000012.11:g.(?_6438478)_(7362819_?)dup	ACRBP, ATN1 +43 more	Duplication	Temtamy syndrome	GUncertain significance
Select item 830671	NC_000012.11:g.(?_6438458)_(7362839_?)dup	ACRBP, ATN1 +43 more	Duplication	Peroxisome biogenesis disorder 2B	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 687386	GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3	CD27, CD9 +14 more	Copy number gain	not provided	GUncertain significance
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 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
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	A2M, A2ML1 +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 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
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 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 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 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 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
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 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 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 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 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	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

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Links from Gene

Items: 77