ClinVar for Gene (Select 100529262) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3125997	NM_006533.4(MIA):c.208G>C (p.Val70Leu)	MIA, MIA-RAB4B (V70L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3038439	NM_006533.4(MIA):c.110C>T (p.Ala37Val)	MIA, MIA-RAB4B (A37V)	Single nucleotide variant (non-coding transcript variant +1 more)	MIA-related disorder	GBenign
Select item 3036794	NM_006533.4(MIA):c.*4C>T	LOC130064489, MIA +1 more	Single nucleotide variant (3 prime UTR variant)	MIA-related disorder	GLikely benign
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 2518608	NM_006533.4(MIA):c.254G>C (p.Gly85Ala)	MIA, MIA-RAB4B (G85A)	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 2464899	NM_006533.4(MIA):c.235C>T (p.Arg79Cys)	MIA, MIA-RAB4B (R79C)	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 2392060	NM_006533.4(MIA):c.7C>T (p.Arg3Trp)	MIA, MIA-RAB4B (R3W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2361784	NM_006533.4(MIA):c.35T>C (p.Ile12Thr)	MIA, MIA-RAB4B (I12T)	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 2334606	NM_006533.4(MIA):c.215T>C (p.Val72Ala)	MIA, MIA-RAB4B (V72A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2316749	NM_006533.4(MIA):c.379G>T (p.Asp127Tyr)	LOC130064489, MIA +1 more (D127Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275791	NM_016154.5(RAB4B):c.223C>T (p.Arg75Trp)	MIA-RAB4B, RAB4B +1 more (R75W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2211964	NM_006533.4(MIA):c.278A>G (p.Tyr93Cys)	MIA, MIA-RAB4B (Y93C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27