RAB5B[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2542142	NM_002868.4(RAB5B):c.29A>G (p.Asn10Ser)	RAB5B (N10S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150815	NM_002868.4(RAB5B):c.46A>G (p.Ser16Gly)	RAB5B (S16G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559326	NM_002868.4(RAB5B):c.283G>A (p.Ala95Thr)	RAB5B (A176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312202	NM_002868.4(RAB5B):c.373A>G (p.Ser125Gly)	RAB5B (S125G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1342138	NM_002868.4(RAB5B):c.406G>C (p.Asp136His)	RAB5B (D136H)	Single nucleotide variant (missense variant +1 more)	RAB5B-associated surfactant dysfunction disorder	GUncertain significance
Select item 2347145	NM_002868.4(RAB5B):c.448G>C (p.Ala150Pro)	RAB5B (A231P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334145	NM_002868.4(RAB5B):c.557C>T (p.Pro186Leu)	RAB5B (P267L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349267	NM_002868.4(RAB5B):c.562A>G (p.Asn188Asp)	RAB5B (N147D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643065	NM_002868.4(RAB5B):c.606T>C (p.His202=)	RAB5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1807602	GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3	BLOC1S1, CD63 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 980439	GRCh37/hg19 12q13.2(chr12:56333246-56558418)x3	CDK2, DGKA +13 more	Copy number gain	not provided	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 20