LOC130061310[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 656297	NC_000017.10:g.(?_56769995)_(56801471_?)dup	LOC129390903, LOC130061310 +2 more	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 651825	NC_000017.11:g.(?_58692634)_(58710000_?)del	LOC129390903, LOC130061310 +2 more	Deletion	Fanconi anemia complementation group O	GPathogenic
Select item 649637	NC_000017.10:g.(?_56769995)_(56811593_?)dup	LOC129390903, LOC130061310 +2 more	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 646951	NC_000017.11:g.(?_58692634)_(58692798_?)del	LOC130061310, RAD51C	Deletion	Fanconi anemia complementation group O	GPathogenic
Select item 538799	NC_000017.10:g.(?_56769999)_(56801467_?)dup	LOC130061310, LOC129390903 +2 more	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 471421	NC_000017.11:g.(?_58692638)_(58734228_?)del	LOC129390903, LOC130061310 +2 more	Deletion	Fanconi anemia complementation group O	GPathogenic
Select item 471419	NC_000017.10:g.(?_56769999)_(56774226_?)dup	LOC130061310, RAD51C	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 219702	NM_058216.1(RAD51C):c.(?_-1)_837+?del	LOC129390903, LOC130061310 +2 more	Deletion	Fanconi anemia complementation group O	GPathogenic
Select item 819250	NM_058216.3(RAD51C):c.145+2_145+3insTT	LOC130061310, RAD51C	Insertion (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2758307	NM_058216.3(RAD51C):c.145+4dup	LOC130061310, RAD51C	Duplication (intron variant)	Fanconi anemia complementation group O	GUncertain significance
Select item 2573245	NM_058216.3(RAD51C):c.145+2T>C	LOC130061310, RAD51C	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 3	GLikely pathogenic
Select item 372087	NM_058216.3(RAD51C):c.145+2T>G	LOC130061310, RAD51C	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group O +2 more	GPathogenic/Likely pathogenic
Select item 241766	NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG	LOC130061310, RAD51C	Indel (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +1 more	GLikely pathogenic
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 647092	NM_058216.3(RAD51C):c.145+4A>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GUncertain significance
Select item 3228946	NM_058216.3(RAD51C):c.145+5C>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	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)	Hereditary cancer-predisposing syndrome +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 1533908	NM_058216.3(RAD51C):c.145+7_145+17del	LOC130061310, RAD51C	Deletion (intron variant)	Fanconi anemia complementation group O	GLikely benign
Select item 492365	NM_058216.3(RAD51C):c.145+8C>T	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O +1 more	GLikely benign
Select item 2996399	NM_058216.3(RAD51C):c.145+10C>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GLikely benign
Select item 2739763	NM_058216.3(RAD51C):c.145+10C>T	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GLikely benign
Select item 2032559	NM_058216.3(RAD51C):c.145+10C>A	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GLikely benign
Select item 2165053	NM_058216.3(RAD51C):c.145+11C>T	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	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 3022684	NM_058216.3(RAD51C):c.145+12T>C	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GLikely benign
Select item 138870	NM_058216.3(RAD51C):c.145+12T>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 3 +4 more	GConflicting classifications of pathogenicity
Select item 1574966	NM_058216.3(RAD51C):c.145+13G>C	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GLikely benign
Select item 628096	NM_058216.3(RAD51C):c.145+13G>A	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +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 803442	NM_058216.3(RAD51C):c.145+15T>C	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GLikely benign
Select item 1612747	NM_058216.3(RAD51C):c.145+16G>A	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GLikely benign
Select item 517907	NM_058216.3(RAD51C):c.145+17G>T	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	not specified +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
Select item 2710410	NM_058216.3(RAD51C):c.145+18C>A	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GLikely benign
Select item 1393407	NM_058216.3(RAD51C):c.145+18C>T	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GUncertain significance
Select item 2719449	NM_058216.3(RAD51C):c.145+19A>G	LOC130061310, RAD51C	Single nucleotide variant (intron variant)	Fanconi anemia complementation group O	GLikely benign

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Items: 42