ClinVar for MedGen (Select 1718899) - ClinVar

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

Links from MedGen

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233943	NM_001136193.2(FASTKD2):c.1644_1647del (p.Leu549fs)	FASTKD2 (L549fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 44	GPathogenic
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 2585214	NM_001136193.2(FASTKD2):c.259G>A (p.Asp87Asn)	FASTKD2 (D87N)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 2578024	NM_001136193.2(FASTKD2):c.496_497del (p.Leu166fs)	FASTKD2 (L166fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 44	GLikely pathogenic
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 1722430	NM_001136193.2(FASTKD2):c.991-2A>G	FASTKD2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 44	GLikely pathogenic
Select item 1693102	NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter)	FASTKD2 (W302*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 44 +1 more	GPathogenic/Likely pathogenic
Select item 1685815	NM_001136193.2(FASTKD2):c.882-1G>A	FASTKD2	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 44	GPathogenic/Likely pathogenic
Select item 1683543	NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter)	FASTKD2 (R358*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1683542	NM_001136193.2(FASTKD2):c.*3673G>A	FASTKD2	Single nucleotide variant (3 prime UTR variant)	Combined oxidative phosphorylation deficiency 44	GUncertain significance
Select item 1660099	NM_001136193.2(FASTKD2):c.2014-18T>C	FASTKD2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GLikely benign
Select item 1587414	NM_001136193.2(FASTKD2):c.1693C>T (p.Leu565=)	FASTKD2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GLikely benign
Select item 1520145	NM_001136193.2(FASTKD2):c.2071A>C (p.Thr691Pro)	FASTKD2 (T691P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
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 1483179	NM_001136193.2(FASTKD2):c.62C>T (p.Ala21Val)	FASTKD2 (A21V)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 1456591	NM_001136193.2(FASTKD2):c.207A>G (p.Gln69=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1443878	NM_001136193.2(FASTKD2):c.1979G>A (p.Arg660Gln)	FASTKD2 (R660Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1403062	NM_001136193.2(FASTKD2):c.1698G>A (p.Pro566=)	FASTKD2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GLikely benign
Select item 1357249	NM_001136193.2(FASTKD2):c.1403A>G (p.His468Arg)	FASTKD2 (H468R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 1349778	NM_001136193.2(FASTKD2):c.601C>T (p.Arg201Cys)	FASTKD2 (R201C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +2 more	GUncertain significance
Select item 1333391	NM_001136193.2(FASTKD2):c.1538del (p.Leu513fs)	FASTKD2 (L513fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation deficiency 44	GLikely pathogenic
Select item 1326233	NM_001136193.2(FASTKD2):c.889G>A (p.Val297Ile)	FASTKD2 (V297I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1307673	NM_001136193.2(FASTKD2):c.1978C>T (p.Arg660Trp)	FASTKD2 (R660W)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 1246366	NM_001136193.2(FASTKD2):c.1898+26G>A	FASTKD2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GBenign
Select item 1219083	NM_001136193.2(FASTKD2):c.2124C>T (p.Ser708=)	FASTKD2	Single nucleotide variant (synonymous variant)	Combined oxidative phosphorylation deficiency 44 +1 more	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 1005350	NM_001136193.2(FASTKD2):c.319C>G (p.Leu107Val)	FASTKD2 (L107V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899199	NM_001136193.2(FASTKD2):c.1870G>T (p.Asp624Tyr)	FASTKD2 (D624Y)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 896449	NM_001136193.2(FASTKD2):c.712G>A (p.Ala238Thr)	FASTKD2 (A238T)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 896448	NM_001136193.2(FASTKD2):c.683A>C (p.Gln228Pro)	FASTKD2 (Q228P)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 895081	NM_001136193.2(FASTKD2):c.1993A>G (p.Met665Val)	FASTKD2 (M665V)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 870461	NM_001136193.2(FASTKD2):c.764T>C (p.Leu255Pro)	FASTKD2 (L255P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44	GPathogenic
Select item 870460	NM_001136193.2(FASTKD2):c.613C>T (p.Arg205Ter)	FASTKD2 (R205*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 44	GPathogenic
Select item 800308	NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)	FASTKD2, LOC126806484 (R290*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 44 +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 800306	NM_001136193.2(FASTKD2):c.1861del (p.Ser621fs)	FASTKD2 (S621fs)	Deletion (frameshift variant)	Leigh syndrome +1 more	GPathogenic
Select item 791020	NM_001136193.2(FASTKD2):c.684G>C (p.Gln228His)	FASTKD2 (Q228H)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
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 517009	NM_001136193.2(FASTKD2):c.1427+20dup	FASTKD2	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 452779	NM_001136193.2(FASTKD2):c.1219G>A (p.Val407Met)	FASTKD2 (V407M)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 449804	NM_001136193.2(FASTKD2):c.1193A>T (p.Asp398Val)	FASTKD2 (D398V)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 418582	NM_001136193.2(FASTKD2):c.2014-12_2014-11del	FASTKD2	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 390897	NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 385008	NM_001136193.2(FASTKD2):c.1115-10A>G	FASTKD2	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 44 +2 more	GLikely benign
Select item 382995	NM_001136193.2(FASTKD2):c.1255-7T>C	FASTKD2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 380292	NM_001136193.2(FASTKD2):c.192T>C (p.Phe64=)	FASTKD2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 379194	NM_001136193.2(FASTKD2):c.756G>A (p.Gln252=)	FASTKD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 377853	NM_001136193.2(FASTKD2):c.777+18T>C	FASTKD2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 377353	NM_001136193.2(FASTKD2):c.356C>T (p.Ser119Phe)	FASTKD2 (S119F)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
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 333809	NM_001136193.2(FASTKD2):c.2074A>G (p.Lys692Glu)	FASTKD2 (K692E)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +3 more	GUncertain significance
Select item 333806	NM_001136193.2(FASTKD2):c.1778C>T (p.Ser593Leu)	FASTKD2 (S593L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +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 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 214353	NM_001136193.2(FASTKD2):c.1063A>G (p.Met355Val)	FASTKD2 (M355V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 214344	NM_001136193.2(FASTKD2):c.298G>T (p.Ala100Ser)	FASTKD2 (A100S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 137296	NM_001136193.2(FASTKD2):c.1254+9A>C	FASTKD2	Single nucleotide variant (intron variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 137294	NM_001136193.2(FASTKD2):c.*9T>C	FASTKD2	Single nucleotide variant (3 prime UTR variant)	not specified +3 more	GBenign
Select item 641	NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter)	FASTKD2 (R432*)	Single nucleotide variant (nonsense)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 62