RAB5C[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 2292104	NM_004583.4(RAB5C):c.619C>T (p.Pro207Ser)	RAB5C (P207S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311340	NM_004583.4(RAB5C):c.557A>T (p.Glu186Val)	RAB5C (E219V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1241743	NM_004583.4(RAB5C):c.429C>T (p.Ala143=)	RAB5C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2618690	NM_004583.4(RAB5C):c.337A>C (p.Lys113Gln)	RAB5C (K113Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486477	NM_004583.4(RAB5C):c.302A>G (p.Tyr101Cys)	RAB5C (Y101C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1342146	NM_004583.4(RAB5C):c.239A>G (p.Gln80Arg)	RAB5C (Q113R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2239682	NM_004583.4(RAB5C):c.20C>T (p.Ala7Val)	RAB5C (A7V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523312	NM_004583.4(RAB5C):c.19G>A (p.Ala7Thr)	RAB5C (A40T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063506	GRCh37/hg19 17q21.2(chr17:39705863-40358580)x3	ACLY, CNP +25 more	Copy number gain	not specified	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic