Related gene-specific medical variations for Gene (Select 22868) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371667	NM_001136193.2(FASTKD2):c.830T>C (p.Leu277Ser)	FASTKD2, LOC126806484 (L277S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247551	NC_000002.11:g.(?_207631418)_(207656526_?)dup	FASTKD2	Duplication	not provided	GUncertain significance
Select item 3092983	NM_001136193.2(FASTKD2):c.840G>A (p.Met280Ile)	FASTKD2, LOC126806484 (M280I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689047	NM_001136193.2(FASTKD2):c.1156T>C (p.Leu386=)	FASTKD2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 2505015	NM_001136193.2(FASTKD2):c.782G>C (p.Arg261Pro)	FASTKD2, LOC126806484 (R261P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480844	NM_001136193.2(FASTKD2):c.838A>G (p.Met280Val)	LOC126806484, FASTKD2 (M280V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441918	NM_001136193.2(FASTKD2):c.1796C>T (p.Pro599Leu)	FASTKD2 (P599L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 2441361	NM_001136193.2(FASTKD2):c.484G>A (p.Glu162Lys)	FASTKD2 (E162K)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 2441359	NM_001136193.2(FASTKD2):c.266G>A (p.Gly89Asp)	FASTKD2 (G89D)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 2163300	NM_001136193.2(FASTKD2):c.781C>T (p.Arg261Cys)	FASTKD2, LOC126806484 (R261C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2038188	NM_001136193.2(FASTKD2):c.860A>C (p.His287Pro)	FASTKD2, LOC126806484 (H287P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960420	NM_001136193.2(FASTKD2):c.855T>C (p.Asn285=)	FASTKD2, LOC126806484	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1497819	NM_001136193.2(FASTKD2):c.782G>A (p.Arg261His)	FASTKD2, LOC126806484 (R261H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1480681	NM_001136193.2(FASTKD2):c.823A>G (p.Thr275Ala)	FASTKD2, LOC126806484 (T275A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380535	NM_001136193.2(FASTKD2):c.781C>G (p.Arg261Gly)	FASTKD2, LOC126806484 (R261G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291171	NM_001136193.2(FASTKD2):c.880A>C (p.Arg294=)	FASTKD2, LOC126806484	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1211633	NM_001136193.2(FASTKD2):c.881+260A>G	FASTKD2, LOC126806484	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200379	NM_001136193.2(FASTKD2):c.881+321A>T	LOC126806484, FASTKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190094	NM_001136193.2(FASTKD2):c.872C>T (p.Thr291Met)	FASTKD2, LOC126806484 (T291M)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 1177942	NM_001136193.2(FASTKD2):c.881+304C>G	FASTKD2, LOC126806484	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 814359	GRCh37/hg19 2q33.3(chr2:207658219-207714938)x1	FASTKD2	Copy number loss	not provided	GUncertain significance
Select item 800308	NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)	FASTKD2, LOC126806484 (R290*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 800307	NM_001136193.2(FASTKD2):c.810_820dup (p.Ser274fs)	FASTKD2, LOC126806484 (S274fs)	Duplication (frameshift variant)	Leigh syndrome +1 more	GPathogenic
Select item 671648	NM_001136193.2(FASTKD2):c.882-312G>T	LOC126806484, FASTKD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620282	NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter)	LOC126806484, FASTKD2 (C283*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 44 +1 more	GPathogenic/Likely pathogenic
Select item 512769	NM_001136193.2(FASTKD2):c.-124G>C	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 509670	NM_001136193.2(FASTKD2):c.-159G>T	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 386023	NM_001136193.2(FASTKD2):c.-150C>T	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 380988	NM_001136193.2(FASTKD2):c.-163T>G	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 333796	NM_001136193.2(FASTKD2):c.-130G>A	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GConflicting classifications of pathogenicity
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 333794	NM_001136193.2(FASTKD2):c.-184C>T	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 137298	NM_001136193.2(FASTKD2):c.-51A>G	FASTKD2, LOC129935479	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 137297	NM_001136193.2(FASTKD2):c.-162C>T	LOC129935479, FASTKD2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign

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Items: 36