"Ambry Genetics"[submitter] AND "MIR4733HG"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1744707	NM_001042492.3(NF1):c.-4G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1784218	NM_001042492.3(NF1):c.-2_3del (p.Met1fs)	LOC111811965, MIR4733HG +1 more (M1fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 822503	NM_001042492.3(NF1):c.-2A>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 231758	NM_001042492.3(NF1):c.-2A>T	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1455045	NM_001042492.3(NF1):c.1A>T (p.Met1Leu)	LOC111811965, MIR4733HG +1 more (M1L)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1 +2 more	GPathogenic
Select item 404429	NM_001042492.3(NF1):c.1A>G (p.Met1Val)	LOC111811965, MIR4733HG +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 547562	NM_001042492.3(NF1):c.2T>A (p.Met1Lys)	LOC111811965, MIR4733HG +1 more (M1K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 426634	NM_001042492.3(NF1):c.2T>G (p.Met1Arg)	LOC111811965, MIR4733HG +1 more (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 280054	NM_001042492.3(NF1):c.2T>C (p.Met1Thr)	LOC111811965, MIR4733HG +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 824485	NM_001042492.3(NF1):c.3G>C (p.Met1Ile)	LOC111811965, MIR4733HG +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GPathogenic
Select item 647845	NM_001042492.3(NF1):c.3G>A (p.Met1Ile)	LOC111811965, MIR4733HG +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1463829	NM_001042492.3(NF1):c.4G>T (p.Ala2Ser)	LOC111811965, MIR4733HG +1 more (A2S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 480205	NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe)	LOC111811965, MIR4733HG +1 more (A2F)	Indel (missense variant)	not provided +3 more	GUncertain significance
Select item 480069	NM_001042492.3(NF1):c.5C>T (p.Ala2Val)	LOC111811965, MIR4733HG +1 more (A2V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1141694	NM_001042492.3(NF1):c.6C>G (p.Ala2=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 233007	NM_001042492.3(NF1):c.6C>T (p.Ala2=)	MIR4733HG, LOC111811965 +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 658636	NM_001042492.3(NF1):c.7G>A (p.Ala3Thr)	LOC111811965, MIR4733HG +1 more (A3T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1765417	NM_001042492.3(NF1):c.8C>A (p.Ala3Glu)	LOC111811965, MIR4733HG +1 more (A3E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 951161	NM_001042492.3(NF1):c.8C>T (p.Ala3Val)	LOC111811965, MIR4733HG +1 more (A3V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2478803	NM_001042492.3(NF1):c.9G>T (p.Ala3=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1624271	NM_001042492.3(NF1):c.9G>A (p.Ala3=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1769357	NM_001042492.3(NF1):c.12C>T (p.His4=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1771751	NM_001042492.3(NF1):c.13A>C (p.Arg5=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1487081	NM_001042492.3(NF1):c.13A>G (p.Arg5Gly)	LOC111811965, MIR4733HG +1 more (R5G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 819120	NM_001042492.3(NF1):c.13A>T (p.Arg5Trp)	LOC111811965, MIR4733HG +1 more (R5W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1780354	NM_001042492.3(NF1):c.17C>A (p.Pro6Gln)	LOC111811965, MIR4733HG +1 more (P6Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1320710	NM_001042492.3(NF1):c.17C>G (p.Pro6Arg)	LOC111811965, MIR4733HG +1 more (P6R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 219691	NM_001042492.3(NF1):c.17C>T (p.Pro6Leu)	MIR4733HG, NF1 +1 more (P6L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 1796212	NM_001042492.3(NF1):c.28_34del (p.Val10fs)	LOC111811965, MIR4733HG +1 more (V10fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 759525	NM_001042492.3(NF1):c.30C>G (p.Val10=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 230597	NM_001042492.3(NF1):c.31C>T (p.Gln11Ter)	MIR4733HG, LOC111811965 +1 more (Q11*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 935275	NM_001042492.3(NF1):c.35C>T (p.Ala12Val)	LOC111811965, MIR4733HG +1 more (A12V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 187615	NM_001042492.3(NF1):c.36C>T (p.Ala12=)	MIR4733HG, NF1 +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 824236	NM_001042492.3(NF1):c.37G>T (p.Val13Leu)	LOC111811965, MIR4733HG +1 more (V13L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 404442	NM_001042492.3(NF1):c.37G>A (p.Val13Met)	LOC111811965, MIR4733HG +1 more (V13M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 835685	NM_001042492.3(NF1):c.38T>C (p.Val13Ala)	LOC111811965, MIR4733HG +1 more (V13A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1736883	NM_001042492.3(NF1):c.39G>T (p.Val13=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1512400	NM_001042492.3(NF1):c.40G>T (p.Val14Phe)	LOC111811965, MIR4733HG +1 more (V14F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2452318	NM_001042492.3(NF1):c.42C>G (p.Val14=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1657365	NM_001042492.3(NF1):c.42C>T (p.Val14=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 659045	NM_001042492.3(NF1):c.44G>A (p.Ser15Asn)	LOC111811965, MIR4733HG +1 more (S15N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 378270	NM_001042492.3(NF1):c.46C>T (p.Arg16Cys)	LOC111811965, MIR4733HG +1 more (R16C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 481953	NM_001042492.3(NF1):c.47G>C (p.Arg16Pro)	LOC111811965, MIR4733HG +1 more (R16P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 457731	NM_001042492.3(NF1):c.48C>T (p.Arg16=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1679935	NM_001042492.3(NF1):c.50T>C (p.Phe17Ser)	LOC111811965, MIR4733HG +1 more (F17S)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1747288	NM_001042492.3(NF1):c.53A>G (p.Asp18Gly)	LOC111811965, MIR4733HG +1 more (D18G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 582267	NM_001042492.3(NF1):c.55G>A (p.Glu19Lys)	LOC111811965, MIR4733HG +1 more (E19K)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 186896	NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)	MIR4733HG, LOC111811965 +1 more (E19*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 955226	NM_001042492.3(NF1):c.58C>G (p.Gln20Glu)	LOC111811965, MIR4733HG +1 more (Q20E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 576465	NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)	LOC111811965, MIR4733HG +1 more (Q20*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 1062479	NM_001042492.3(NF1):c.59A>G (p.Gln20Arg)	LOC111811965, MIR4733HG +1 more (Q20R)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +2 more	GUncertain significance
Select item 1751608	NM_001042492.3(NF1):c.60G>A (p.Gln20=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1751022	NM_001042492.3(NF1):c.60+1del	LOC111811965, MIR4733HG +1 more	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1069238	NM_001042492.3(NF1):c.60+2T>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 428980	NM_001042492.3(NF1):c.60+2del	LOC111811965, MIR4733HG +1 more	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 945776	NM_001042492.3(NF1):c.60+4A>G	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 457777	NM_001042492.3(NF1):c.60+5C>G	NF1, LOC111811965 +1 more	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign

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Items: 57