ClinVar for MedGen (Select 332529) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708373	NM_024876.4(COQ8B):c.1339dup (p.Glu447fs)	COQ8B (E406fs +1 more)	Duplication (frameshift variant)	Renal insufficiency +1 more	GPathogenic/Likely pathogenic
Select item 689540	NM_001009944.3(PKD1):c.7904dup (p.Arg2636fs)	PKD1 (R2636fs)	Duplication (frameshift variant)	Renal insufficiency	GLikely pathogenic
Select item 620077	NM_001009944.3(PKD1):c.3890_3891insCAC (p.Leu1297_Arg1298insThr)	PKD1	Insertion (inframe_insertion)	Renal insufficiency +1 more	GLikely pathogenic
Select item 523533	NM_022489.4(INF2):c.658G>A (p.Glu220Lys)	INF2 (E220K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate E +6 more	GPathogenic/Likely pathogenic
Select item 424786	NM_000243.2(MEFV):c.[2084A>G];[2230G>T]			Familial Mediterranean fever	GLikely pathogenic
Select item 49135	NM_000368.5(TSC1):c.989dup (p.Ser331fs)	TSC1 (S210fs +2 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GConflicting classifications of pathogenicity

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