Related gene-specific medical variations for Gene (Select 55340) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099803	NM_018384.5(GIMAP5):c.283G>C (p.Glu95Gln)	GIMAP1-GIMAP5, GIMAP5 (E299Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099801	NM_018384.5(GIMAP5):c.-143G>C	GIMAP1-GIMAP5, GIMAP5 (S157T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658160	NM_018384.5(GIMAP5):c.741C>A (p.Ala247=)	GIMAP1-GIMAP5, GIMAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619772	NM_018384.5(GIMAP5):c.-177C>T	GIMAP1-GIMAP5, GIMAP5 (L18F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588097	NM_018384.5(GIMAP5):c.533G>A (p.Arg178Gln)	GIMAP1-GIMAP5, GIMAP5 (R254Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490465	NM_018384.5(GIMAP5):c.-110G>A	GIMAP1-GIMAP5, GIMAP5 (R40K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398050	NM_018384.5(GIMAP5):c.532C>T (p.Arg178Trp)	GIMAP1-GIMAP5, GIMAP5 (R382W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376543	NM_018384.5(GIMAP5):c.-162G>A	GIMAP1-GIMAP5, GIMAP5 (V151I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311848	NM_018384.5(GIMAP5):c.-28C>G	GIMAP1-GIMAP5, GIMAP5 (D67E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309690	NM_018384.5(GIMAP5):c.-69G>A	GIMAP1-GIMAP5, GIMAP5 (G54R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1344846	NM_018384.5(GIMAP5):c.326C>T (p.Pro109Leu)	GIMAP1-GIMAP5, GIMAP5 (P109L +2 more)	Single nucleotide variant (missense variant)	Portal hypertension +1 more	GPathogenic/Likely pathogenic
Select item 1344845	NM_018384.5(GIMAP5):c.667C>T (p.Leu223Phe)	GIMAP1-GIMAP5, GIMAP5 (L223F +2 more)	Single nucleotide variant (missense variant)	Portal hypertension +1 more	GPathogenic/Likely pathogenic
Select item 1344844	NM_018384.5(GIMAP5):c.140T>C (p.Ile47Thr)	GIMAP1-GIMAP5, GIMAP5 (I123T +2 more)	Single nucleotide variant (missense variant)	Portal hypertension +1 more	GPathogenic/Likely pathogenic
Select item 1188820	NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro)	GIMAP5, GIMAP1-GIMAP5 (L280P +1 more)	Single nucleotide variant (missense variant)	Portal hypertension, noncirrhotic, 2 +1 more	GConflicting classifications of pathogenicity
Select item 776271	NM_018384.5(GIMAP5):c.813G>A (p.Ala271=)	GIMAP1-GIMAP5, GIMAP5	Single nucleotide variant (synonymous variant)	not provided	GBenign