"Illumina Laboratory Services, Illumina"[submitter] AND "FASTKD2"[gene - ClinVar - NCBI

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	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
Select item 333797	NM_001136193.2(FASTKD2):c.-37C>T	FASTKD2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333798	NM_001136193.2(FASTKD2):c.-30T>C	FASTKD2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 333799	NM_001136193.2(FASTKD2):c.-15A>G	FASTKD2	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 137293	NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr)	FASTKD2 (S10T)	Single nucleotide variant (missense variant)	FASTKD2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 333800	NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn)	FASTKD2 (S15N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 374694	NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg)	FASTKD2 (W26R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +2 more	GConflicting classifications of pathogenicity
Select item 376842	NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg)	FASTKD2 (K50R)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 333801	NM_001136193.2(FASTKD2):c.225A>G (p.Arg75=)	FASTKD2	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 895010	NM_001136193.2(FASTKD2):c.485A>G (p.Glu162Gly)	FASTKD2 (E162G)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333802	NM_001136193.2(FASTKD2):c.527C>T (p.Ala176Val)	FASTKD2 (A176V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 195304	NM_001136193.2(FASTKD2):c.602G>A (p.Arg201His)	FASTKD2 (R201H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 896448	NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro)	FASTKD2 (Q228P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 791020	NM_001136193.2(FASTKD2):c.684G>C (p.Gln228His)	FASTKD2 (Q228H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896449	NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr)	FASTKD2 (A238T)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +2 more	GUncertain significance
Select item 333803	NM_001136193.2(FASTKD2):c.832G>A (p.Glu278Lys)	FASTKD2, LOC126806484 (E278K)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 214351	NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr)	FASTKD2 (I304T)	Single nucleotide variant (missense variant)	FASTKD2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 896450	NM_001136193.2(FASTKD2):c.945G>A (p.Lys315=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 333804	NM_001136193.2(FASTKD2):c.991-13G>C	FASTKD2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137295	NM_001136193.2(FASTKD2):c.991-13G>A	FASTKD2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 898074	NM_001136193.2(FASTKD2):c.999C>T (p.Ala333=)	FASTKD2	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 632337	NM_001136193.2(FASTKD2):c.1021del (p.Ser341fs)	FASTKD2 (S341fs)	Deletion (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898075	NM_001136193.2(FASTKD2):c.1034G>A (p.Ser345Asn)	FASTKD2 (S345N)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 214347	NM_001136193.2(FASTKD2):c.1090G>A (p.Asp364Asn)	FASTKD2 (D364N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 214348	NM_001136193.2(FASTKD2):c.1187A>G (p.Asn396Ser)	FASTKD2 (N396S)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 449804	NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val)	FASTKD2 (D398V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 137296	NM_001136193.2(FASTKD2):c.1254+9A>C	FASTKD2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 44 +3 more	GBenign/Likely benign
Select item 214349	NM_001136193.2(FASTKD2):c.1295G>A (p.Arg432Gln)	FASTKD2 (R432Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 289018	NM_001136193.2(FASTKD2):c.1353A>G (p.Leu451=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 391796	NM_001136193.2(FASTKD2):c.1389C>T (p.Tyr463=)	FASTKD2	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 899197	NM_001136193.2(FASTKD2):c.1427+12T>G	FASTKD2	Single nucleotide variant (intron variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333805	NM_001136193.2(FASTKD2):c.1428-13C>G	FASTKD2	Single nucleotide variant (intron variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 377003	NM_001136193.2(FASTKD2):c.1435G>T (p.Val479Leu)	FASTKD2 (V479L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899198	NM_001136193.2(FASTKD2):c.1630G>A (p.Asp544Asn)	FASTKD2 (D544N)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333806	NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu)	FASTKD2 (S593L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899199	NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr)	FASTKD2 (D624Y)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 333807	NM_001136193.2(FASTKD2):c.1992A>C (p.Ala664=)	FASTKD2	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895081	NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val)	FASTKD2 (M665V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +2 more	GUncertain significance
Select item 333808	NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser)	FASTKD2 (N673S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 895082	NM_001136193.2(FASTKD2):c.2041G>A (p.Glu681Lys)	FASTKD2 (E681K)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333809	NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu)	FASTKD2 (K692E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 214346	NM_001136193.2(FASTKD2):c.2093C>T (p.Ala698Val)	FASTKD2 (A698V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 137294	NM_001136193.2(FASTKD2):c.*9T>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation deficiency 44 +2 more	GBenign
Select item 333810	NM_001136193.2(FASTKD2):c.*58G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333811	NM_001136193.2(FASTKD2):c.*87A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896525	NM_001136193.2(FASTKD2):c.*104A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333812	NM_001136193.2(FASTKD2):c.*159C>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely benign
Select item 896526	NM_001136193.2(FASTKD2):c.*257G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896527	NM_001136193.2(FASTKD2):c.*328T>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333813	NM_001136193.2(FASTKD2):c.*399T>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333814	NM_001136193.2(FASTKD2):c.*451C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333815	NM_001136193.2(FASTKD2):c.*557A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GBenign
Select item 333816	NM_001136193.2(FASTKD2):c.*585G>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333817	NM_001136193.2(FASTKD2):c.*624C>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333818	NM_001136193.2(FASTKD2):c.*627T>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GBenign
Select item 333819	NM_001136193.2(FASTKD2):c.*672T>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GBenign
Select item 898144	NM_001136193.2(FASTKD2):c.*799C>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898145	NM_001136193.2(FASTKD2):c.*813G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333820	NM_001136193.2(FASTKD2):c.*1010T>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333821	NM_001136193.2(FASTKD2):c.*1036C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898146	NM_001136193.2(FASTKD2):c.*1158C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333822	NM_001136193.2(FASTKD2):c.*1159G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333823	NM_001136193.2(FASTKD2):c.*1180G>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333824	NM_001136193.2(FASTKD2):c.*1202A>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333825	NM_001136193.2(FASTKD2):c.*1215G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GBenign
Select item 333826	NM_001136193.2(FASTKD2):c.*1270dup	FASTKD2	Duplication (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899252	NM_001136193.2(FASTKD2):c.*1295C>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333827	NM_001136193.2(FASTKD2):c.*1335G>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333828	NM_001136193.2(FASTKD2):c.*1345G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 899253	NM_001136193.2(FASTKD2):c.*1406G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895144	NM_001136193.2(FASTKD2):c.*1415T>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely benign
Select item 333829	NM_001136193.2(FASTKD2):c.1438_1449del	FASTKD2	Deletion (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333830	NM_001136193.2(FASTKD2):c.*1446A>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895145	NM_001136193.2(FASTKD2):c.*1450T>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333831	NM_001136193.2(FASTKD2):c.*1452C>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895146	NM_001136193.2(FASTKD2):c.*1464C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333832	NM_001136193.2(FASTKD2):c.*1475dup	FASTKD2	Duplication (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely benign
Select item 895147	NM_001136193.2(FASTKD2):c.*1494A>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333833	NM_001136193.2(FASTKD2):c.*1520dup	FASTKD2	Duplication (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895148	NM_001136193.2(FASTKD2):c.*1578C>T	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 895149	NM_001136193.2(FASTKD2):c.*1579G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333834	NM_001136193.2(FASTKD2):c.*1621A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896569	NM_001136193.2(FASTKD2):c.*1700A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896570	NM_001136193.2(FASTKD2):c.*1716A>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896571	NM_001136193.2(FASTKD2):c.*1883T>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333835	NM_001136193.2(FASTKD2):c.*1981C>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333836	NM_001136193.2(FASTKD2):c.2009_2010del	FASTKD2	Deletion (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 896572	NM_001136193.2(FASTKD2):c.*2021G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333837	NM_001136193.2(FASTKD2):c.*2069T>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GBenign
Select item 896573	NM_001136193.2(FASTKD2):c.*2085G>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 898199	NM_001136193.2(FASTKD2):c.*2107T>G	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 333838	NM_001136193.2(FASTKD2):c.*2114del	FASTKD2	Deletion (3 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance

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