List of variants reported as uncertain significance for neurocristopathy by MGZ Medical Genetics Center

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		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)	rs201047812	0.00015
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)	rs192332761	0.00011
NM_020975.6(RET):c.1942G>A (p.Val648Ile)	rs77711105	0.00007
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)	rs200302954	0.00003
NM_198253.3(TERT):c.2145C>T (p.Gly715=)	rs769467251	0.00003
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)	rs369493270	0.00001
NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile)	rs1345463010	0.00001
NM_001042492.3(NF1):c.1527+2dup	rs1597698533
NM_001042492.3(NF1):c.3014T>C (p.Met1005Thr)	rs1555614504
NM_001042492.3(NF1):c.3113+2T>C	rs876658997
NM_001042492.3(NF1):c.3304T>G (p.Leu1102Val)
NM_001042492.3(NF1):c.341T>C (p.Leu114Pro)
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg)	rs1555618508
NM_001042492.3(NF1):c.4290G>C (p.Lys1430Asn)
NM_001042492.3(NF1):c.4431G>T (p.Arg1477Ser)	rs181462219
NM_001042492.3(NF1):c.4927_4929delinsATA (p.Val1643Ile)	rs1597829655
NM_001042492.3(NF1):c.5158G>C (p.Glu1720Gln)
NM_001042492.3(NF1):c.5381T>G (p.Val1794Gly)
NM_001042492.3(NF1):c.5812+5_5812+8del
NM_001042492.3(NF1):c.7762C>G (p.Gln2588Glu)
NM_001042492.3(NF1):c.8248A>G (p.Thr2750Ala)
NM_001042492.3(NF1):c.94A>G (p.Thr32Ala)
NM_001370259.2(MEN1):c.1388A>C (p.Glu463Ala)
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)	rs386134259
NM_015450.3(POT1):c.119G>A (p.Gly40Glu)	rs2116629512
NM_017780.4(CHD7):c.4409G>A (p.Gly1470Asp)
NM_017780.4(CHD7):c.5935T>C (p.Ser1979Pro)
NM_017780.4(CHD7):c.7604G>A (p.Ser2535Asn)
NM_017780.4(CHD7):c.8182G>A (p.Ala2728Thr)
NM_020975.6(RET):c.158T>C (p.Val53Ala)
NM_020975.6(RET):c.1897_1899del (p.Leu633del)

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