Related gene-specific medical variations for Gene (Select 339122) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150803	NM_198490.3(RAB43):c.610A>G (p.Ile204Val)	ISY1-RAB43, RAB43 (I204V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3150802	NM_198490.3(RAB43):c.541A>G (p.Ile181Val)	ISY1-RAB43, RAB43 (I181V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3150801	NM_198490.3(RAB43):c.197G>T (p.Arg66Leu)	ISY1-RAB43, RAB43 (R66L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3056372	NM_198490.3(RAB43):c.12G>A (p.Pro4=)	ISY1-RAB43, RAB43	Single nucleotide variant (synonymous variant +1 more)	RAB43-related disorder	GBenign
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 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 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 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 2552534	NM_198490.3(RAB43):c.446T>C (p.Leu149Pro)	ISY1-RAB43, RAB43 (L149P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2356299	NM_198490.3(RAB43):c.533C>T (p.Thr178Met)	ISY1-RAB43, RAB43 (T178M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance