"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TDRD9"[ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 789823	NM_153046.3(TDRD9):c.323-10C>T	TDRD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718196	NM_153046.3(TDRD9):c.332C>T (p.Pro111Leu)	TDRD9 (P111L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776863	NM_153046.3(TDRD9):c.360= (p.Thr120=)	TDRD9	Variation (no sequence alteration)	not provided	GBenign
Select item 788582	NM_153046.3(TDRD9):c.694A>G (p.Thr232Ala)	TDRD9 (T232A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2054504	NM_153046.3(TDRD9):c.775C>T (p.Arg259Ter)	TDRD9 (R259*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 713999	NM_153046.3(TDRD9):c.1953G>A (p.Val651=)	TDRD9	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 735736	NM_153046.3(TDRD9):c.2406C>T (p.Val802=)	TDRD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071661	NM_153046.3(TDRD9):c.2772_2773del (p.Glu924fs)	TDRD9 (E924fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 787417	NM_153046.3(TDRD9):c.2808G>C (p.Leu936=)	TDRD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716013	NM_153046.3(TDRD9):c.3177C>T (p.His1059=)	TDRD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786258	NM_153046.3(TDRD9):c.3509+4T>C	TDRD9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2069250	NM_153046.3(TDRD9):c.3604del (p.Ser1202fs)	TDRD9 (S1202fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 776864	NM_153046.3(TDRD9):c.3938C>T (p.Ala1313Val)	TDRD9 (A1313V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3244027	NC_000014.8:g.(?_102873655)_(105861009_?)del	ADSS1, AHNAK2 +40 more	Deletion	Herpes simplex encephalitis, susceptibility to, 3	GUncertain significance
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	MOK, NUDT14 +47 more	Duplication	Herpes simplex encephalitis, susceptibility to, 3 +1 more	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1681847	NC_000014.8:g.(?_103336539)_(105861009_?)dup	ADSS1, AHNAK2 +37 more	Duplication	not provided	GUncertain significance
Select item 1410807	NC_000014.8:g.(?_102229222)_(105861009_?)dup	ZFYVE21, ZNF839 +47 more	Duplication	not provided	GUncertain significance