"GeneDx"[submitter] AND "LOC111811965"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 1013130	NM_001042492.3(NF1):c.-272G>A	LOC111811965, MIR4733HG +1 more	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, type 1 +1 more	GConflicting classifications of pathogenicity
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 1455045	NM_001042492.3(NF1):c.1A>T (p.Met1Leu)	MIR4733HG, LOC111811965 +1 more (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
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 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 2063440	NM_001042492.3(NF1):c.5C>A (p.Ala2Asp)	LOC111811965, MIR4733HG +1 more (A2D)	Single nucleotide variant (missense variant)	Neurofibromatosis, type 1 +1 more	GUncertain significance
Select item 1072626	NM_001042492.3(NF1):c.9del (p.His4fs)	LOC111811965, MIR4733HG +1 more (H4fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1487081	NM_001042492.3(NF1):c.13A>G (p.Arg5Gly)	LOC111811965, MIR4733HG +1 more (R5G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 3372695	NM_001042492.3(NF1):c.24dup (p.Trp9fs)	LOC111811965, MIR4733HG +1 more (W9fs)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1459748	NM_001042492.3(NF1):c.27G>A (p.Trp9Ter)	LOC111811965, MIR4733HG +1 more (W9*)	Single nucleotide variant (nonsense)	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 2576820	NM_001042492.3(NF1):c.29T>G (p.Val10Gly)	LOC111811965, MIR4733HG +1 more (V10G)	Single nucleotide variant (missense variant)	not provided	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 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 2855409	NM_001042492.3(NF1):c.41T>A (p.Val14Asp)	LOC111811965, MIR4733HG +1 more (V14D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 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 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 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

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Items: 29