Related gene-specific medical variations for Gene (Select 64170) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340105	NM_052813.5(CARD9):c.951+9G>A	CARD9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3245199	NC_000009.11:g.(?_139264852)_(139265707_?)del	CARD9	Deletion	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely pathogenic
Select item 3245198	NC_000009.11:g.(?_139258754)_(139266530_?)del	CARD9	Deletion	Predisposition to invasive fungal disease due to CARD9 deficiency	GPathogenic
Select item 914318	NM_052813.5(CARD9):c.*246C>G	CARD9, LOC130003002	Single nucleotide variant (3 prime UTR variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 913277	NM_052813.5(CARD9):c.-113C>T	CARD9, LOC113839540	Single nucleotide variant (5 prime UTR variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 913276	NM_052813.5(CARD9):c.-73C>T	CARD9, LOC113839540	Single nucleotide variant (5 prime UTR variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 365865	NM_052813.5(CARD9):c.-139G>A	CARD9, LOC113839540	Single nucleotide variant (5 prime UTR variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 365864	NM_052813.5(CARD9):c.-126C>A	CARD9, LOC113839540	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 365863	NM_052813.5(CARD9):c.-119C>G	CARD9, LOC113839540	Single nucleotide variant (5 prime UTR variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 365862	NM_052813.5(CARD9):c.-82C>G	CARD9, LOC113839540	Single nucleotide variant (5 prime UTR variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GLikely benign
Select item 365861	NM_052813.5(CARD9):c.-24A>C	LOC113839540, CARD9	Single nucleotide variant (5 prime UTR variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GBenign
Select item 365829	NM_052813.5(CARD9):c.*244T>G	CARD9, LOC130003002	Single nucleotide variant (3 prime UTR variant)	Predisposition to invasive fungal disease due to CARD9 deficiency	GUncertain significance
Select item 365828	NM_052813.5(CARD9):c.*292T>C	LOC130003002, CARD9	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign