ClinVar for Gene (Select 27239) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282312	NM_019858.2(GPR162):c.1097A>G (p.Lys366Arg)	GPR162 (K366R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282311	NM_019858.2(GPR162):c.944C>T (p.Ala315Val)	GPR162 (A31V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282310	NM_019858.2(GPR162):c.1130C>A (p.Pro377Gln)	GPR162 (P377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282309	NM_019858.2(GPR162):c.1129C>A (p.Pro377Thr)	GPR162 (P377T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282308	NM_019858.2(GPR162):c.1247A>C (p.Glu416Ala)	GPR162 (E416A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282307	NM_019858.2(GPR162):c.1249A>G (p.Thr417Ala)	GPR162 (T417A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282306	NM_019858.2(GPR162):c.1429G>A (p.Ala477Thr)	GPR162 (A477T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282305	NM_019858.2(GPR162):c.680C>A (p.Ala227Glu)	GPR162 (A227E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282304	NM_019858.2(GPR162):c.1103G>A (p.Arg368His)	GPR162 (R368H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282303	NM_019858.2(GPR162):c.1512G>C (p.Glu504Asp)	GPR162 (E220D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282302	NM_019858.2(GPR162):c.1003C>T (p.Arg335Cys)	GPR162 (R51C +1 more)	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 3101598	NM_019858.2(GPR162):c.5C>T (p.Ala2Val)	GPR162 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101597	NM_019858.2(GPR162):c.41G>A (p.Arg14His)	GPR162 (R14H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3101596	NM_019858.2(GPR162):c.1691G>C (p.Gly564Ala)	GPR162 (G564A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101595	NM_019858.2(GPR162):c.1666G>A (p.Ala556Thr)	GPR162 (A272T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101594	NM_019858.2(GPR162):c.1619T>C (p.Leu540Pro)	GPR162 (L256P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101593	NM_019858.2(GPR162):c.1610G>A (p.Arg537Gln)	GPR162 (R253Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101592	NM_019858.2(GPR162):c.1546T>C (p.Ser516Pro)	GPR162 (S516P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101591	NM_019858.2(GPR162):c.1331C>T (p.Ala444Val)	GPR162 (A160V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101590	NM_019858.2(GPR162):c.1259T>C (p.Phe420Ser)	GPR162 (F420S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101589	NM_019858.2(GPR162):c.1102C>T (p.Arg368Cys)	GPR162 (R368C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101588	NM_019858.2(GPR162):c.1088G>A (p.Arg363Gln)	GPR162 (R79Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101587	NM_019858.2(GPR162):c.1051G>C (p.Asp351His)	GPR162 (D351H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101586	NM_019858.2(GPR162):c.1004G>A (p.Arg335His)	GPR162 (R335H +1 more)	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 2566903	NM_019858.2(GPR162):c.1504C>T (p.Arg502Trp)	GPR162 (R218W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552806	NM_019858.2(GPR162):c.73C>T (p.Leu25Phe)	GPR162 (L25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540124	NM_019858.2(GPR162):c.358C>T (p.Arg120Cys)	GPR162 (R120C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525201	NM_019858.2(GPR162):c.1706C>G (p.Ala569Gly)	GPR162 (A569G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520804	NM_019858.2(GPR162):c.1579C>T (p.Arg527Trp)	GPR162 (R527W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519461	NM_019858.2(GPR162):c.17C>T (p.Ala6Val)	GPR162 (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494731	NM_019858.2(GPR162):c.1253A>T (p.Asn418Ile)	GPR162 (N418I +1 more)	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 2391179	NM_019858.2(GPR162):c.1402G>A (p.Glu468Lys)	GPR162 (E468K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379784	NM_019858.2(GPR162):c.1606C>T (p.Arg536Cys)	GPR162 (R252C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370632	NM_019858.2(GPR162):c.893C>T (p.Ser298Leu)	GPR162 (S298L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342201	NM_019858.2(GPR162):c.1573C>G (p.Pro525Ala)	GPR162 (P241A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332813	NM_019858.2(GPR162):c.1393G>A (p.Glu465Lys)	GPR162 (E465K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321842	NM_019858.2(GPR162):c.1508A>C (p.Glu503Ala)	GPR162 (E219A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321442	NM_019858.2(GPR162):c.1394A>C (p.Glu465Ala)	GPR162 (E181A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312051	NM_019858.2(GPR162):c.40C>A (p.Arg14Ser)	GPR162 (R14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311479	NM_019858.2(GPR162):c.1340G>A (p.Arg447Gln)	GPR162 (R163Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262403	NM_019858.2(GPR162):c.245A>G (p.Asp82Gly)	GPR162 (D82G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259391	NM_019858.2(GPR162):c.692G>A (p.Gly231Glu)	GPR162 (G231E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248238	NM_019858.2(GPR162):c.1430C>T (p.Ala477Val)	GPR162 (A193V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233165	NM_019858.2(GPR162):c.1072G>A (p.Asp358Asn)	GPR162 (D358N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232693	NM_019858.2(GPR162):c.1423G>A (p.Gly475Arg)	GPR162 (G191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232422	NM_019858.2(GPR162):c.1612C>T (p.Leu538Phe)	GPR162 (L538F +1 more)	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 1527683	GRCh37/hg19 12p13.31(chr12:6872634-7244086)	ATN1, C12orf57 +20 more	Copy number gain	not specified	GUncertain significance
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 777658	NM_019858.2(GPR162):c.1695T>G (p.Gly565=)	GPR162	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777657	NM_019858.2(GPR162):c.1694dup (p.Gly565_Glu566insTer)	GPR162	Duplication (frameshift variant)	not provided	GBenign
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 685583	GRCh37/hg19 12p13.31(chr12:6872484-7009333)x3	CD4, CDCA3 +8 more	Copy number gain	not provided	GUncertain significance
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
Select item 58985	GRCh38/hg38 12p13.31(chr12:6728665-7705620)x1	LOC130007275, LOC130007276 +97 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 99