"GeneDx"[submitter] AND "RAB31"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 59957	GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1	ANKRD12, GACAT2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1255287	NM_006868.4(RAB31):c.40-32225T>G	RAB31	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253656	GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1	ANKRD62, MC2R +63 more	Copy number loss	See cases	GPathogenic
Select item 253646	GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1	LAMA1, CETN1 +41 more	Copy number loss	See cases	GPathogenic
Select item 253619	GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1	NDUFV2, CETN1 +65 more	Copy number loss	See cases	GPathogenic
Select item 253449	GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4	POTEC, LRRC30 +65 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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