RAB4B[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic

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Items: 28