"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC130061310 - ClinVar - NCBI

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Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 819250	NM_058216.3(RAD51C):c.145+2_145+3insTT	LOC130061310, RAD51C	Insertion (splice donor variant)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 538776	NM_058216.3(RAD51C):c.145+3A>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 927263	NM_058216.3(RAD51C):c.145+5_145+7delinsG	LOC130061310, RAD51C	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 478777	NM_058216.3(RAD51C):c.145+5C>A	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 233690	NM_058216.3(RAD51C):c.145+5C>T	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 2774190	NM_058216.3(RAD51C):c.145+6G>A	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 492365	NM_058216.3(RAD51C):c.145+8C>T	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 492363	NM_058216.3(RAD51C):c.145+11C>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +1 more	GLikely benign
Select item 138870	NM_058216.3(RAD51C):c.145+12T>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +4 more	GConflicting classifications of pathogenicity
Select item 628096	NM_058216.3(RAD51C):c.145+13G>A	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +1 more	GLikely benign
Select item 927308	NM_058216.3(RAD51C):c.145+14A>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 492364	NM_058216.3(RAD51C):c.145+17G>A	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +1 more	GLikely benign