"Genome-Nilou Lab"[submitter] AND "LOC111811965"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257274	NM_001042492.3(NF1):c.-22G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign/Likely benign
Select item 404429	NM_001042492.3(NF1):c.1A>G (p.Met1Val)	MIR4733HG, LOC111811965 +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Neurofibromatosis, type 1 +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)	MIR4733HG, LOC111811965 +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 480205	NM_001042492.3(NF1):c.4_5delinsTT (p.Ala2Phe)	LOC111811965, MIR4733HG +1 more (A2F)	Indel (missense variant)	Juvenile myelomonocytic leukemia +4 more	GUncertain significance
Select item 233007	NM_001042492.3(NF1):c.6C>T (p.Ala2=)	MIR4733HG, NF1 +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1320710	NM_001042492.3(NF1):c.17C>G (p.Pro6Arg)	MIR4733HG, LOC111811965 +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)	LOC111811965, MIR4733HG +1 more (P6L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 759525	NM_001042492.3(NF1):c.30C>G (p.Val10=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +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 187615	NM_001042492.3(NF1):c.36C>T (p.Ala12=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 835685	NM_001042492.3(NF1):c.38T>C (p.Val13Ala)	LOC111811965, MIR4733HG +1 more (V13A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 659045	NM_001042492.3(NF1):c.44G>A (p.Ser15Asn)	LOC111811965, MIR4733HG +1 more (S15N)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +3 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)	Hereditary cancer-predisposing syndrome +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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1531036	NM_001042492.3(NF1):c.54C>T (p.Asp18=)	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (synonymous variant)	Neurofibromatosis, type 1 +2 more	GLikely benign
Select item 186896	NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)	LOC111811965, MIR4733HG +1 more (E19*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 576465	NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)	LOC111811965, MIR4733HG +1 more (Q20*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 650986	NM_001042492.3(NF1):c.59A>C (p.Gln20Pro)	LOC111811965, MIR4733HG +1 more (Q20P)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1	GConflicting classifications of pathogenicity
Select item 965727	NM_001042492.3(NF1):c.60G>C (p.Gln20His)	LOC111811965, MIR4733HG +1 more (Q20H)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GLikely pathogenic
Select item 1216575	NM_001042492.3(NF1):c.60+1G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (splice donor variant)	NF1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 663201	NM_001042492.3(NF1):c.60+1G>C	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (splice donor variant)	Neurofibromatosis, type 1	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

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Items: 24