Related gene-specific medical variations for Gene (Select 112806077) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334283	NM_014140.4(SMARCAL1):c.-164G>A	LOC112806077, SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334282	NM_014140.4(SMARCAL1):c.-170C>T	LOC112806077, SMARCAL1	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GUncertain significance
Select item 334281	NM_014140.4(SMARCAL1):c.-200G>A	SMARCAL1, LOC112806077	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GLikely benign
Select item 334280	NM_014140.4(SMARCAL1):c.-218C>T	SMARCAL1, LOC112806077	Single nucleotide variant (5 prime UTR variant)	Schimke immuno-osseous dysplasia	GBenign

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