ClinVar for MedGen (Select 1677186) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1353049	NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg)	ITM2B, LOC130009752 (P31R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1334024	NM_021999.5(ITM2B):c.800G>T (p.Ter267Leu)	ITM2B	Single nucleotide variant (stop lost)	ABri amyloidosis	GLikely pathogenic
Select item 5979	NM_021999.5(ITM2B):c.799T>A (p.Ter267Arg)	ITM2B	Single nucleotide variant (stop lost)	ABri amyloidosis	GPathogenic

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