valine at residue 804 replaced by methionine|p.Val804Met - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1955634	NM_130837.3(OPA1):c.2464G>A (p.Val822Met)	OPA1 (V643M +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2593474	NM_001387691.1(POM121):c.3493G>A (p.Val1165Met)	POM121 (V1165M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 24928	NM_020975.6(RET):c.1946C>T (p.Ser649Leu)	RET (S395L +13 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +8 more	GConflicting classifications of pathogenicity
Select item 618965	NM_020975.4(RET):c.[2410G>A;2832C>G]	RET (V804M +35 more)	Single nucleotide variant (missense variant)	Medullary thyroid carcinoma	GPathogenic
Select item 38613	NM_020975.6(RET):c.2410G>C (p.Val804Leu)	RET (V804L +17 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 37102	NM_020975.6(RET):c.2410G>A (p.Val804Met)	RET (V804M +17 more)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1 +12 more	GPathogenic/Likely pathogenic
Select item 13946	NM_020975.6(RET):c.2410G>T (p.Val804Leu)	RET (V804L +17 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 3071018	NM_020975.6(RET):c.2413G>A (p.Glu805Lys)	RET (E805K +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2	GUncertain significance
Select item 24942	NM_020975.6(RET):c.2417A>G (p.Tyr806Cys)	RET (Y806C +17 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 24962	NM_020975.6(RET):c.2711C>G (p.Ser904Cys)	RET (S904C +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia, type 2 +1 more	GUncertain significance
Select item 13945	NM_020975.4(RET):c.[2410G>A;2711C>G]	RET (S904C +35 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B	GPathogenic
Select item 13938	NM_020975.6(RET):c.2944C>T (p.Arg982Cys)	RET (R982C +17 more)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 1402954	NM_014633.5(CTR9):c.2482G>A (p.Val828Met)	CTR9 (V828M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 855415	NM_022489.4(INF2):c.2410G>A (p.Val804Met)	INF2 (V804M)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 5 +1 more	GLikely benign
Select item 2150442	NM_004727.3(SLC24A1):c.2752G>A (p.Val918Met)	SLC24A1 (V245M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628973	NM_001142864.4(PIEZO1):c.2410G>A (p.Val804Met)	HSALR1, PIEZO1 (V318M +1 more)	Single nucleotide variant (missense variant)	PIEZO1-related disorder	GUncertain significance
Select item 376406	NM_004448.4(ERBB2):c.2329G>A (p.Val777Met)	ERBB2 (V747M +18 more)	Single nucleotide variant (missense variant +2 more)	Gastric adenocarcinoma +2 more	GLikely pathogenic
Select item 630796	NM_007294.4(BRCA1):c.2791G>A (p.Val931Met)	BRCA1 (V931M +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 186015	NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)	BRIP1 (R865Q)	Single nucleotide variant (missense variant)	BRIP1-related disorder +5 more	GUncertain significance