M136T[VARNAME] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1737621	NM_001048174.2(MUTYH):c.323T>C (p.Met108Thr)	MUTYH (M119T +9 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 972909	NM_000183.3(HADHB):c.407T>C (p.Met136Thr)	HADHB (M136T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency	GLikely pathogenic
Select item 965513	NM_000179.3(MSH6):c.1313T>C (p.Met438Thr)	MSH6 (M136T +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 3292651	NM_152698.3(AMER3):c.407T>C (p.Met136Thr)	AMER3 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1374355	NM_001372051.1(CASP8):c.311T>C (p.Met104Thr)	CASP8 (M104T +3 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 2921109	NM_019076.5(UGT1A8):c.1202T>C (p.Met401Thr)	UGT1A, UGT1A1 +8 more (M403T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3186167	NM_001075.6(UGT2B10):c.407T>C (p.Met136Thr)	UGT2B10 (M136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2946126	NM_005219.5(DIAPH1):c.407T>C (p.Met136Thr)	DIAPH1 (M136T +1 more)	Single nucleotide variant (missense variant)	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more	GUncertain significance
Select item 978063	NM_001002030.2(ECHDC1):c.389T>C (p.Met130Thr)	ECHDC1 (M130T +2 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of butyryl-CoA dehydrogenase	GLikely pathogenic
Select item 455717	NM_000535.7(PMS2):c.407T>C (p.Met136Thr)	PMS2 (M136T +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2281731	NM_030796.5(VOPP1):c.407T>C (p.Met136Thr)	VOPP1 (M133T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1386588	NM_005918.4(MDH2):c.407T>C (p.Met136Thr)	MDH2 (M136T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2479102	NM_001122838.3(NAPEPLD):c.407T>C (p.Met136Thr)	NAPEPLD (M136T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303281	NM_001005281.3(OR6B1):c.407T>C (p.Met136Thr)	OR6B1 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049847	NM_005005.3(NDUFB9):c.536T>C (p.Met179Thr)	NDUFB9 (M123T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3204780	NM_001004483.1(OR13C8):c.407T>C (p.Met136Thr)	OR13C8 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204926	NM_001005234.1(OR1L3):c.407T>C (p.Met136Thr)	OR1L3 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605232	NM_016172.3(UBAC1):c.407T>C (p.Met136Thr)	LOC126860789, UBAC1 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136180	NM_001366906.2(CABCOCO1):c.671T>C (p.Met224Thr)	CABCOCO1 (M136T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515524	NM_001010987.2(IFIT1B):c.407T>C (p.Met136Thr)	IFIT1B (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305426	NM_001004489.3(OR2AG1):c.407T>C (p.Met136Thr)	OR2AG1 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205067	NM_004739.4(MTA2):c.926T>C (p.Met309Thr)	MTA2 (M309T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 618586	NM_001876.4(CPT1A):c.407T>C (p.Met136Thr)	CPT1A (M136T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3187332	NM_001346252.4(USP28):c.1406T>C (p.Met469Thr)	USP28 (M136T +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168232	NM_174927.3(SPATA19):c.407T>C (p.Met136Thr)	SPATA19 (M136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248744	NM_031299.7(CDCA3):c.407T>C (p.Met136Thr)	CDCA3 (M111T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328241	NM_182608.4(ANKRD33):c.407T>C (p.Met136Thr)	ANKRD33 (M136T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540439	NM_001286535.2(RAD9B):c.623T>C (p.Met208Thr)	RAD9B (M139T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143225	NM_001025195.2(CES1):c.410T>C (p.Met137Thr)	CES1 (M136T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552720	NM_022770.4(GINS3):c.641T>C (p.Met214Thr)	GINS3 (M136T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 18296	NM_000485.3(APRT):c.407T>C (p.Met136Thr)	APRT (M136T)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 3273579	NM_001383.6(DPH1):c.407T>C (p.Met136Thr)	DPH1 (M141T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1679136	NM_000515.5(GH1):c.452T>C (p.Met151Thr)	GH-LCR, GH1 (M111T +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant isolated somatotropin deficiency	GUncertain significance
Select item 403772	NM_000455.5(STK11):c.407T>C (p.Met136Thr)	STK11 (M136T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3193119	NM_001320669.3(ZFP30):c.407T>C (p.Met136Thr)	ZFP30 (M136T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1646870	NM_021784.5(FOXA2):c.425T>C (p.Met142Thr)	FOXA2 (M136T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1518794	NM_021254.4(CFAP298):c.407T>C (p.Met136Thr)	CFAP298, CFAP298-TCP10L (M136T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3092465	NM_002025.4(AFF2):c.407T>C (p.Met136Thr)	AFF2 (M132T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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Items: 38