ClinVar for MedGen (Select 396208) - 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)	ADan amyloidosis +3 more	GUncertain significance
Select item 975900	NM_021999.5(ITM2B):c.50A>G (p.Lys17Arg)	ITM2B, LOC130009751 (K17R)	Single nucleotide variant (missense variant)	ADan amyloidosis	GUncertain significance
Select item 5980	NM_021999.5(ITM2B):c.787_796dup (p.Ser266fs)	ITM2B (S266fs)	Duplication (frameshift variant)	ADan amyloidosis	GPathogenic

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