"GeneDx"[submitter] AND "LOC130060311"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 215298	NM_017775.3(TTC19):c.-44A>G	LOC130060311, TTC19	Single nucleotide variant	not specified	GLikely benign
Select item 215308	NM_017775.3(TTC19):c.-42G>T	LOC130060311, TTC19	Single nucleotide variant	not provided	GPathogenic
Select item 137772	NM_017775.4(TTC19):c.-15G>A	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2 +2 more	GBenign
Select item 1302506	NM_017775.4(TTC19):c.-1C>G	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 137773	NM_017775.4(TTC19):c.-1C>T	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 488973	NM_017775.4(TTC19):c.1A>G (p.Met1Val)	LOC130060311, TTC19 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 215303	NM_017775.4(TTC19):c.7C>T (p.Arg3Trp)	LOC130060311, TTC19 (R3W)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 215299	NM_017775.4(TTC19):c.23G>C (p.Ser8Thr)	LOC130060311, TTC19 (S8T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 378796	NM_017775.4(TTC19):c.27G>C (p.Leu9=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 382625	NM_017775.4(TTC19):c.87C>T (p.Leu29=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1059427	NM_017775.4(TTC19):c.112C>A (p.Pro38Thr)	LOC130060311, TTC19 (P38T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 516796	NM_017775.4(TTC19):c.122A>G (p.Gln41Arg)	LOC130060311, TTC19 (Q41R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 321941	NM_017775.4(TTC19):c.146C>T (p.Pro49Leu)	LOC130060311, TTC19 (P49L)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 512926	NM_017775.4(TTC19):c.147G>C (p.Pro49=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 508828	NM_017775.4(TTC19):c.184+6G>C	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 506556	NM_017775.4(TTC19):c.184+11C>G	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1303442	NM_017775.4(TTC19):c.185-5C>G	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 215300	NM_017775.4(TTC19):c.194G>A (p.Trp65Ter)	LOC130060311, TTC19 (W65*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 379304	NM_017775.4(TTC19):c.229C>G (p.Gln77Glu)	LOC130060311, TTC19 (Q77E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 509206	NM_017775.4(TTC19):c.240C>G (p.Ala80=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign

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Items: 22