LOC126861412[gene] - ClinVar

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Items: 33

	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 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 152732	GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1	ADIPOR2, B4GALNT3 +142 more	Copy number loss	See cases	GPathogenic
Select item 152450	GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1	ADIPOR2, B4GALNT3 +147 more	Copy number loss	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 149131	GRCh38/hg38 12p13.33(chr12:54427-936828)x1	B4GALNT3, CCDC77 +44 more	Copy number loss	See cases	GUncertain significance
Select item 147092	GRCh38/hg38 12p13.33(chr12:54452-2558097)x1	ADIPOR2, B4GALNT3 +101 more	Copy number loss	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 149561	GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1	ADIPOR2, B4GALNT3 +170 more	Copy number loss	See cases	GPathogenic
Select item 148625	GRCh38/hg38 12p13.33(chr12:80412-2850599)x1	ADIPOR2, B4GALNT3 +114 more	Copy number loss	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 58952	GRCh38/hg38 12p13.33(chr12:99592-1786491)x1	LOC130007161, LOC130007162 +80 more	Copy number loss	See cases	GPathogenic
Select item 154528	GRCh38/hg38 12p13.33(chr12:121255-3003320)x1	ADIPOR2, B4GALNT3 +123 more	Copy number loss	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 57044	GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1	ADIPOR2, B4GALNT3 +146 more	Copy number loss	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 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 59798	GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3	ADIPOR2, B4GALNT3 +126 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 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 149979	GRCh38/hg38 12p13.33(chr12:431903-1521472)x3	B4GALNT3, CCDC77 +40 more	Copy number gain	See cases	GUncertain significance
Select item 57155	GRCh38/hg38 12p13.33(chr12:832749-1632145)x3	ERC1, FBXL14 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1342407	NC_000012.12:g.879711_984377dup	LOC126861412, LOC130007152 +2 more	Duplication	12p13.33 duplication syndrome	GUncertain significance
Select item 144782	GRCh38/hg38 12p13.33(chr12:902526-1279346)x3	ERC1, LOC124625877 +8 more	Copy number gain	See cases	GUncertain significance
Select item 2524172	NM_134424.4(RAD52):c.1108A>C (p.Thr370Pro)	LOC126861412, RAD52 (T293P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037321	NM_134424.4(RAD52):c.1037C>A (p.Ser346Ter)	LOC126861412, RAD52 (S269* +1 more)	Single nucleotide variant (nonsense +1 more)	RAD52-related disorder	GBenign
Select item 3312410	NM_134424.4(RAD52):c.1000G>A (p.Val334Met)	LOC126861412, RAD52 (V334M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3151068	NM_134424.4(RAD52):c.1000G>C (p.Val334Leu)	LOC126861412, RAD52 (V334L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3151070	NM_134424.4(RAD52):c.980A>C (p.Asp327Ala)	LOC126861412, RAD52 (D250A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 136211	NM_134424.4(RAD52):c.967+135G>T	LOC126861412, RAD52	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2378584	NM_134424.4(RAD52):c.890C>T (p.Thr297Met)	LOC126861412, RAD52 (T297M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 33