RAB5A[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 57700	GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3	BALR6, EFHB +39 more	Copy number gain	See cases	GUncertain significance
Select item 147343	GRCh38/hg38 3p24.3(chr3:18366779-20647947)x1	EFHB, KAT2B +53 more	Copy number loss	See cases	GUncertain significance
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 2332643	NM_004162.5(RAB5A):c.16G>A (p.Ala6Thr)	RAB5A (A6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495111	NM_004162.5(RAB5A):c.190C>T (p.Leu64Phe)	RAB5A (L64F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312198	NM_004162.5(RAB5A):c.289A>G (p.Ile97Val)	RAB5A (I83V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467460	NM_004162.5(RAB5A):c.325G>A (p.Ala109Thr)	RAB5A (A109T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312200	NM_004162.5(RAB5A):c.370C>G (p.Pro124Ala)	RAB5A (P124A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348569	NM_004162.5(RAB5A):c.373A>G (p.Asn125Asp)	RAB5A (N111D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672110	NM_004162.5(RAB5A):c.395G>A (p.Gly132Glu)	RAB5A (G118E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2313728	NM_004162.5(RAB5A):c.416A>G (p.Asn139Ser)	RAB5A (N125S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150813	NM_004162.5(RAB5A):c.478A>C (p.Met160Leu)	RAB5A (M160L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312199	NM_004162.5(RAB5A):c.507T>A (p.Asn169Lys)	RAB5A (N155K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774418	NM_004162.5(RAB5A):c.567A>G (p.Pro189=)	PP2D1, RAB5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1178729	NM_004162.5(RAB5A):c.*1094C>G	PP2D1, RAB5A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 688666	GRCh37/hg19 3p24.3(chr3:19833713-20933527)x3	EFHB, KAT2B +3 more	Copy number gain	not provided	GUncertain significance
Select item 687662	GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1	EFHB, KAT2B +15 more	Copy number loss	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 36