p.M389V[varname] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2341824	NM_004799.4(ZFYVE9):c.1165A>G (p.Met389Val)	ZFYVE9 (M389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 596970	NM_001330677.2(TBX15):c.1483A>G (p.Met495Val)	TBX15 (M389V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3095381	NM_025207.5(FLAD1):c.1456A>G (p.Met486Val)	FLAD1 (M486V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 952761	NM_000702.4(ATP1A2):c.1165A>G (p.Met389Val)	ATP1A2 (M389V)	Single nucleotide variant (missense variant)	Familial hemiplegic migraine	GUncertain significance
Select item 2552345	NM_001282693.2(FMO1):c.1354A>G (p.Met452Val)	FMO1 (M389V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 208644	NM_014946.4(SPAST):c.1168A>G (p.Met390Val)	SPAST (M390V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 1002714	NM_000465.4(BARD1):c.1222A>G (p.Met408Val)	BARD1 (M389V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 3162762	NM_152679.4(SLC10A4):c.1165A>G (p.Met389Val)	SLC10A4 (M389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128663	NM_001025616.3(ARHGAP24):c.1450A>G (p.Met484Val)	ARHGAP24 (M291V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1356212	NM_001386140.1(MTTP):c.1414A>G (p.Met472Val)	MTTP (M389V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144377	NM_018834.6(MATR3):c.1165A>G (p.Met389Val)	MATR3 (M389V +4 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 21	GUncertain significance
Select item 3164481	NM_181776.3(SLC36A2):c.1165A>G (p.Met389Val)	SLC36A2 (M389V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2717635	NM_006060.6(IKZF1):c.1552A>G (p.Met518Val)	IKZF1 (M288V +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205464	NM_152703.5(SAMD9L):c.1165A>G (p.Met389Val)	SAMD9L (M389V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2313861	NM_007188.5(ABCB8):c.1114A>G (p.Met372Val)	ABCB8 (M284V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721153	NM_033402.5(LRRCC1):c.1591A>G (p.Met531Val)	LRRCC1 (M389V +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3215235	NM_001122.4(PLIN2):c.1165A>G (p.Met389Val)	PLIN2 (M389V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243085	NM_001855.5(COL15A1):c.1165A>G (p.Met389Val)	COL15A1 (M389V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 664690	NM_001609.4(ACADSB):c.1165A>G (p.Met389Val)	ACADSB (M287V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1045986	NM_006431.3(CCT2):c.1306A>G (p.Met436Val)	CCT2 (M436V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2365087	NM_024808.5(BORA):c.1375A>G (p.Met459Val)	BORA (M408V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252246	NM_002471.4(MYH6):c.1165A>G (p.Met389Val)	MYH6 (M389V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 578229	NM_000548.5(TSC2):c.1765A>G (p.Met589Val)	TSC2 (M589V +4 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2	GUncertain significance
Select item 2269713	NM_001302109.2(ZNF75A):c.1165A>G (p.Met389Val)	ZNF75A (M30V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264571	NM_001288718.2(STAT5A):c.1255A>G (p.Met419Val)	STAT5A (M419V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 408752	NM_004364.5(CEBPA):c.1060A>G (p.Met354Val)	CEBPA (M354V +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2438960	NM_000032.5(ALAS2):c.1276A>G (p.Met426Val)	ALAS2 (M389V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 27