Related gene-specific medical variations for Gene (Select 53916) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312197	NM_016154.5(RAB4B):c.352C>G (p.Leu118Val)	MIA-RAB4B, RAB4B +1 more (L118V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3312196	NM_016154.5(RAB4B):c.210T>G (p.Phe70Leu)	MIA-RAB4B, RAB4B +1 more (F70L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3312195	NM_016154.5(RAB4B):c.209T>G (p.Phe70Cys)	MIA-RAB4B, RAB4B +1 more (F70C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3312194	NM_016154.5(RAB4B):c.412C>T (p.Arg138Cys)	MIA-RAB4B, RAB4B +1 more (R138C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150812	NM_016154.5(RAB4B):c.616G>A (p.Val206Met)	MIA-RAB4B, RAB4B +1 more (V206M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150811	NM_016154.5(RAB4B):c.583C>T (p.Arg195Cys)	MIA-RAB4B, RAB4B +1 more (R195C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150810	NM_016154.5(RAB4B):c.499C>T (p.Arg167Cys)	MIA-RAB4B, RAB4B +1 more (R167C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150809	NM_016154.5(RAB4B):c.405G>C (p.Glu135Asp)	MIA-RAB4B, RAB4B +1 more (E135D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150808	NM_016154.5(RAB4B):c.227G>A (p.Ser76Asn)	MIA-RAB4B, RAB4B +1 more (S76N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2565647	NM_016154.5(RAB4B):c.320G>A (p.Arg107His)	MIA-RAB4B, RAB4B +1 more (R107H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520187	NM_016154.5(RAB4B):c.571G>C (p.Asp191His)	MIA-RAB4B, RAB4B +1 more (D191H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2511104	NM_016154.5(RAB4B):c.70C>G (p.Leu24Val)	MIA-RAB4B, RAB4B +1 more (L24V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2509989	NM_016154.5(RAB4B):c.262T>C (p.Tyr88His)	MIA-RAB4B, RAB4B +1 more (Y88H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2468908	NM_016154.5(RAB4B):c.584G>A (p.Arg195His)	MIA-RAB4B, RAB4B +1 more (R195H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2405217	NM_016154.5(RAB4B):c.265G>A (p.Asp89Asn)	MIA-RAB4B, RAB4B +1 more (D89N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2401134	NM_016154.5(RAB4B):c.627G>T (p.Gln209His)	MIA-RAB4B, RAB4B +1 more (Q209H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2355862	NM_016154.5(RAB4B):c.629C>T (p.Pro210Leu)	MIA-RAB4B, RAB4B +1 more (P210L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2339351	NM_016154.5(RAB4B):c.391G>A (p.Val131Ile)	MIA-RAB4B, RAB4B +1 more (V131I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2275791	NM_016154.5(RAB4B):c.223C>T (p.Arg75Trp)	RAB4B, MIA-RAB4B +1 more (R75W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance