"PreventionGenetics, part of Exact Sciences"[submitter] AND "RAB43"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029853	NM_198490.3(RAB43):c.389-1224C>G	ISY1-RAB43, RAB43 (Q138E)	Single nucleotide variant (missense variant +1 more)	RAB43-related disorder	GUncertain significance
Select item 3054713	NM_198490.3(RAB43):c.389-1250T>G	ISY1-RAB43, RAB43	Single nucleotide variant (intron variant)	RAB43-related disorder	GLikely benign
Select item 3032105	NM_198490.3(RAB43):c.387C>T (p.Ile129=)	ISY1-RAB43, RAB43	Single nucleotide variant (3 prime UTR variant +1 more)	RAB43-related disorder	GLikely benign
Select item 3057612	NM_198490.3(RAB43):c.360G>A (p.Ala120=)	ISY1-RAB43, RAB43	Single nucleotide variant (3 prime UTR variant +1 more)	RAB43-related disorder	GLikely benign
Select item 3050338	NM_198490.3(RAB43):c.357T>C (p.Tyr119=)	ISY1-RAB43, RAB43	Single nucleotide variant (3 prime UTR variant +1 more)	RAB43-related disorder	GLikely benign
Select item 3044970	NM_198490.3(RAB43):c.51C>T (p.Phe17=)	ISY1-RAB43, RAB43	Single nucleotide variant (synonymous variant +1 more)	RAB43-related disorder	GLikely benign
Select item 3056372	NM_198490.3(RAB43):c.12G>A (p.Pro4=)	ISY1-RAB43, RAB43	Single nucleotide variant (synonymous variant +1 more)	RAB43-related disorder	GBenign

ClinVar