"Illumina Laboratory Services, Illumina"[submitter] AND "LOC129935479" - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333791	NM_014929.3(FASTKD2):c.-178T>C	LOC129935479, FASTKD2	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898017	NM_014929.3(FASTKD2):c.-158T>C	FASTKD2, LOC129935479	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333792	NM_014929.3(FASTKD2):c.-127G>C	FASTKD2, LOC129935479	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333793	NM_014929.3(FASTKD2):c.-123T>G	FASTKD2, LOC129935479	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899133	NM_001136193.2(FASTKD2):c.-190A>G	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333794	NM_001136193.2(FASTKD2):c.-184C>T	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GBenign
Select item 333795	NM_001136193.2(FASTKD2):c.-181G>A	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 137297	NM_001136193.2(FASTKD2):c.-162C>T	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 333796	NM_001136193.2(FASTKD2):c.-130G>A	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity