ClinVar for MedGen (Select 396266) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1321312	NM_001042492.3(NF1):c.4183_4186del (p.Gln1395fs)	NF1 (Q1374fs +1 more)	Deletion (frameshift variant)	Tibial pseudarthrosis +1 more	GPathogenic
Select item 803364	NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)	NF1	Deletion (nonsense)	Neurofibromatosis, type 1 +7 more	GPathogenic/Likely pathogenic
Select item 560364	NM_001042492.3(NF1):c.2800_2802del (p.Phe934del)	NF1 (F934del)	Deletion (inframe_deletion)	Cafe au lait spots, multiple	GUncertain significance
Select item 560363	NM_001042492.3(NF1):c.989C>A (p.Ala330Glu)	NF1 (A330E)	Single nucleotide variant (missense variant)	Cafe au lait spots, multiple	GUncertain significance
Select item 523397	NM_001042492.3(NF1):c.3496+53T>C	NF1	Single nucleotide variant (intron variant)	Motor delay +2 more	GUncertain significance
Select item 523350	NM_001042492.3(NF1):c.6704+2del	NF1	Deletion (splice donor variant)	Axillary freckling +3 more	GPathogenic
Select item 523349	NM_001042492.3(NF1):c.616_617insGG (p.Lys206fs)	NF1 (K206fs)	Insertion (frameshift variant)	Cafe au lait spots, multiple	GLikely pathogenic
Select item 523348	NM_001042492.3(NF1):c.6109G>A (p.Ala2037Thr)	NF1 (A2016T +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 523345	NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)	NF1 (R1391T +1 more)	Single nucleotide variant (missense variant)	Cafe au lait spots, multiple +5 more	GConflicting classifications of pathogenicity
Select item 523344	NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter)	NF1 (Y1604* +1 more)	Single nucleotide variant (nonsense)	Axillary freckling +2 more	GPathogenic
Select item 523264	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	EVI2A, CRLF3 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523263	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	ADAP2, ATAD5 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 489188	NM_001042492.3(NF1):c.6225G>A (p.Trp2075Ter)	NF1 (W2054* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 431976	NM_001042492.3(NF1):c.1721G>A (p.Ser574Asn)	NF1 (S574N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 374108	NM_001042492.3(NF1):c.1721+3A>G	NF1 (Y575C)	Single nucleotide variant (missense variant +1 more)	Cafe au lait spots, multiple +6 more	GPathogenic
Select item 374022	NM_001042492.3(NF1):c.2252-3T>G	NF1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +7 more	GPathogenic/Likely pathogenic
Select item 373973	NM_001042492.3(NF1):c.6904C>T (p.Gln2302Ter)	NF1 (Q2281* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 373947	NM_001042492.3(NF1):c.2410-1G>A	NF1	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 280055	NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	NF1 (R816*)	Single nucleotide variant (nonsense)	not provided +13 more	GPathogenic
Select item 267866	46;X;t(X;18)(p11.4;q12.2)dn		Translocation	Global brain atrophy +3 more	GUncertain significance
Select item 220152	NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	NF1 (R1534* +1 more)	Single nucleotide variant (nonsense)	Subcutaneous neurofibroma +8 more	GPathogenic/Likely pathogenic
Select item 180531	NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys)	SOS1 (T451K +1 more)	Single nucleotide variant (missense variant)	Cafe au lait spots, multiple +1 more	GUncertain significance
Select item 40093	NM_001042492.3(NF1):c.574C>T (p.Arg192Ter)	NF1 (R192*)	Single nucleotide variant (nonsense)	Focal T2 hyperintense basal ganglia lesion +8 more	GPathogenic
Select item 336	NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	NF1 (K1423E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +12 more	GPathogenic

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Items: 24