LOC126861438[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	LOC130008916, LOC130008917 +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 147698	GRCh38/hg38 12p13.31(chr12:7747398-7919345)x3	CLEC4C, LOC108942766 +11 more	Copy number gain	See cases	GBenign
Select item 147678	GRCh38/hg38 12p13.31(chr12:7747398-7936064)x3	CLEC4C, LOC108942766 +11 more	Copy number gain	See cases	GBenign
Select item 157237	NC_000012.12:g.7777575_7949790dup	LOC108942766, LOC116268429 +8 more	Duplication	Preeclampsia	Gnot provided
Select item 157236	NC_000012.12:g.7777575_7993566dup	LOC108942766, LOC116268429 +12 more	Duplication	Large for gestational age	Gnot provided
Select item 150900	GRCh38/hg38 12p13.31(chr12:7832894-7965604)x3	LOC116268429, LOC116268430 +8 more	Copy number gain	See cases	GLikely benign
Select item 157238	NC_000012.12:g.7840720_7973149dup	LOC116268429, LOC116268430 +8 more	Duplication	Normal pregnancy	Gnot provided
Select item 157239	NC_000012.12:g.7848316_7961833dup	LOC116268429, LOC116268430 +8 more	Duplication	Large for gestational age	Gnot provided
Select item 146610	GRCh38/hg38 12p13.31(chr12:7850818-7936064)x1	LOC124625898, LOC126861438 +3 more	Copy number loss	See cases	GBenign
Select item 150653	GRCh38/hg38 12p13.31(chr12:7850905-8455624)x1	C3AR1, CLEC4A +39 more	Copy number loss	See cases	GLikely benign
Select item 221742	GRCh38/hg38 12p13.31(chr12:7851162-7970710)x1	LOC116268429, LOC116268430 +8 more	Copy number loss	Premature ovarian failure	GBenign

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Items: 21