GPR19[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 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 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 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 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 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 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 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 2665013	GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)	DUSP16, LOC124625907 +54 more	Copy number gain	not provided	GUncertain significance
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 2272121	NM_006143.3(GPR19):c.1180G>A (p.Asp394Asn)	GPR19 (D394N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101656	NM_006143.3(GPR19):c.1173C>T (p.Asp391=)	GPR19	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 723538	NM_006143.3(GPR19):c.1164G>A (p.Ser388=)	GPR19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2541786	NM_006143.3(GPR19):c.1120A>G (p.Ile374Val)	GPR19 (I374V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371671	NM_006143.3(GPR19):c.1052A>G (p.Lys351Arg)	GPR19 (K351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101664	NM_006143.3(GPR19):c.994A>G (p.Ile332Val)	GPR19 (I332V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623453	NM_006143.3(GPR19):c.907C>A (p.Gln303Lys)	GPR19 (Q303K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290230	NM_006143.3(GPR19):c.806G>A (p.Arg269Gln)	GPR19 (R269Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282348	NM_006143.3(GPR19):c.805C>G (p.Arg269Gly)	GPR19 (R269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282346	NM_006143.3(GPR19):c.797T>C (p.Ile266Thr)	GPR19 (I266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101663	NM_006143.3(GPR19):c.776C>T (p.Thr259Met)	GPR19 (T259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101662	NM_006143.3(GPR19):c.763A>G (p.Thr255Ala)	GPR19 (T255A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101661	NM_006143.3(GPR19):c.685T>A (p.Leu229Met)	GPR19 (L229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608881	NM_006143.3(GPR19):c.673G>A (p.Val225Ile)	GPR19 (V225I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713760	NM_006143.3(GPR19):c.502G>A (p.Val168Ile)	GPR19 (V168I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3282347	NM_006143.3(GPR19):c.482T>C (p.Ile161Thr)	GPR19 (I161T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101659	NM_006143.3(GPR19):c.463G>A (p.Val155Ile)	GPR19 (V155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781064	NM_006143.3(GPR19):c.405T>C (p.Ser135=)	GPR19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3101658	NM_006143.3(GPR19):c.395C>T (p.Thr132Met)	GPR19 (T132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588971	NM_006143.3(GPR19):c.364G>A (p.Val122Ile)	GPR19 (V122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618097	NM_006143.3(GPR19):c.342C>G (p.Ile114Met)	GPR19 (I114M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594694	NM_006143.3(GPR19):c.209T>C (p.Ile70Thr)	GPR19 (I70T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101657	NM_006143.3(GPR19):c.136G>A (p.Glu46Lys)	GPR19 (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590802	NM_006143.3(GPR19):c.92C>T (p.Thr31Ile)	GPR19 (T31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101660	NM_006143.3(GPR19):c.59T>C (p.Leu20Pro)	GPR19 (L20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554872	NM_006143.3(GPR19):c.10G>C (p.Ala4Pro)	GPR19 (A4P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546589	NM_006143.3(GPR19):c.4G>T (p.Val2Phe)	GPR19 (V2F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 695291	NC_000012.12:g.12717002C>A	CDKN1B, GPR19 +1 more	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign
Select item 1266363	NC_000012.12:g.12717038G>T	CDKN1B, GPR19 +1 more	Single nucleotide variant	not provided	GBenign
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 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	APOLD1, BCL2L14 +19 more	Copy number loss	Intellectual disability	GPathogenic
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 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +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 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
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 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 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 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	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	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 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	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 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 221389	GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3	APOLD1, BORCS5 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 72