Related gene-specific medical variations for Gene (Select 84285) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305396	NM_001143985.1(BANF1):c.-408C>T	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GLikely benign
Select item 305395	NM_001143985.1(BANF1):c.-415_-414dup	BANF1, EIF1AD +1 more	Duplication (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305394	NM_001143985.1(BANF1):c.-421G>A	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305393	NM_001143985.1(BANF1):c.-429G>C	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305392	NM_001143985.1(BANF1):c.-440A>G	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance

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