ClinVar for MedGen (Select 1684750) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3575245	NM_002392.6(MDM2):c.1151A>G (p.Asn384Ser)	MDM2 (N182S +5 more)	Single nucleotide variant (missense variant)	Lessel-kubisch syndrome +1 more	GUncertain significance
Select item 3575244	NM_002392.6(MDM2):c.598G>A (p.Asp200Asn)	MDM2 (D145N +2 more)	Single nucleotide variant (missense variant +1 more)	Lessel-kubisch syndrome +1 more	GUncertain significance
Select item 3575243	NM_002392.6(MDM2):c.544T>C (p.Ser182Pro)	MDM2 (S182P +2 more)	Single nucleotide variant (missense variant +1 more)	Lessel-kubisch syndrome +1 more	GUncertain significance
Select item 3575242	NM_002392.6(MDM2):c.74T>C (p.Ile25Thr)	LOC126861563, MDM2 (I25T +1 more)	Single nucleotide variant (missense variant)	Lessel-kubisch syndrome +1 more	GUncertain significance
Select item 3575241	NM_002392.6(MDM2):c.28A>C (p.Thr10Pro)	LOC126861563, MDM2 (T10P +1 more)	Single nucleotide variant (missense variant)	Lessel-kubisch syndrome +1 more	GUncertain significance
Select item 3575240	NM_002392.6(MDM2):c.14+19G>A	LOC126861563, MDM2	Single nucleotide variant (intron variant)	Lessel-kubisch syndrome +1 more	GUncertain significance
Select item 3124615	NM_002392.6(MDM2):c.865G>A (p.Ala289Thr)	MDM2 (A234T +4 more)	Single nucleotide variant (missense variant +1 more)	Lessel-kubisch syndrome +2 more	GUncertain significance
Select item 1386125	NM_002392.6(MDM2):c.523+5A>G	MDM2	Single nucleotide variant (intron variant)	Lessel-kubisch syndrome +1 more	GUncertain significance
Select item 856511	NM_002392.6(MDM2):c.44C>T (p.Pro15Leu)	LOC126861563, MDM2 (P9L +1 more)	Single nucleotide variant (missense variant)	Accelerated tumor formation, susceptibility to +1 more	GUncertain significance
Select item 855111	NM_002392.6(MDM2):c.995G>A (p.Arg332His)	MDM2 (R130H +5 more)	Single nucleotide variant (missense variant)	Accelerated tumor formation, susceptibility to +1 more	GUncertain significance
Select item 694663	NM_002392.6(MDM2):c.1492T>C (p.Ter498Gln)	MDM2	Single nucleotide variant (stop lost)	Accelerated tumor formation, susceptibility to	GLikely pathogenic