Related gene-specific medical variations for Gene (Select 79072) - ClinVar

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

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606059	NM_024091.4(FASTKD3):c.1150C>T (p.Leu384Phe)	MTRR, FASTKD3 (L384F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605533	NM_024091.4(FASTKD3):c.352T>C (p.Phe118Leu)	FASTKD3, MTRR (F118L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592753	NM_024091.4(FASTKD3):c.1430G>A (p.Arg477Gln)	FASTKD3, MTRR (R477Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2511399	NM_024091.4(FASTKD3):c.629A>G (p.Lys210Arg)	FASTKD3, MTRR (K210R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2495432	NM_024091.4(FASTKD3):c.989C>G (p.Thr330Ser)	FASTKD3, MTRR (T330S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477268	NM_024091.4(FASTKD3):c.658A>G (p.Ile220Val)	FASTKD3, MTRR (I220V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2476538	NM_024091.4(FASTKD3):c.1026A>G (p.Ile342Met)	FASTKD3, MTRR (I342M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2408551	NM_024091.4(FASTKD3):c.335C>T (p.Ser112Leu)	MTRR, FASTKD3 (S112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401406	NM_024091.4(FASTKD3):c.1162A>G (p.Ile388Val)	MTRR, FASTKD3 (I388V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397179	NM_024091.4(FASTKD3):c.620G>T (p.Arg207Leu)	FASTKD3, MTRR (R207L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389515	NM_024091.4(FASTKD3):c.1256A>G (p.Asn419Ser)	MTRR, FASTKD3 (N419S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387476	NM_024091.4(FASTKD3):c.1580C>T (p.Ser527Phe)	FASTKD3, MTRR (S527F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362774	NM_024091.4(FASTKD3):c.647G>A (p.Arg216His)	MTRR, FASTKD3 (R216H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2353813	NM_024091.4(FASTKD3):c.526A>G (p.Thr176Ala)	FASTKD3, MTRR (T176A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2348581	NM_024091.4(FASTKD3):c.712C>A (p.Leu238Ile)	MTRR, FASTKD3 (L238I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324216	NM_024091.4(FASTKD3):c.1267C>T (p.Pro423Ser)	MTRR, FASTKD3 (P423S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312603	NM_024091.4(FASTKD3):c.998A>G (p.Glu333Gly)	FASTKD3, MTRR (E333G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301928	NM_024091.4(FASTKD3):c.442G>A (p.Gly148Arg)	FASTKD3, MTRR (G148R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2284101	NM_024091.4(FASTKD3):c.1956T>A (p.Phe652Leu)	FASTKD3, MTRR (F652L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278937	NM_024091.4(FASTKD3):c.256G>T (p.Asp86Tyr)	MTRR, FASTKD3 (D86Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274390	NM_024091.4(FASTKD3):c.1466G>T (p.Ser489Ile)	MTRR, FASTKD3 (S489I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262275	NM_024091.4(FASTKD3):c.1469G>A (p.Arg490Gln)	MTRR, FASTKD3 (R490Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255278	NM_024091.4(FASTKD3):c.647G>T (p.Arg216Leu)	MTRR, FASTKD3 (R216L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234968	NM_024091.4(FASTKD3):c.1213C>T (p.Pro405Ser)	MTRR, FASTKD3 (P405S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225624	NM_024091.4(FASTKD3):c.789G>C (p.Leu263Phe)	MTRR, FASTKD3 (L263F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207642	NM_024091.4(FASTKD3):c.1019C>T (p.Ala340Val)	FASTKD3, MTRR (A340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790563	NM_024091.4(FASTKD3):c.1375G>C (p.Glu459Gln)	FASTKD3, MTRR (E459Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771859	NM_024091.4(FASTKD3):c.1296G>T (p.Leu432=)	FASTKD3, MTRR	Single nucleotide variant (synonymous variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 28