Related gene-specific medical variations for Gene (Select 5551) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689824	NM_001083116.3(PRF1):c.1349C>A (p.Thr450Lys)	PRF1 (T450K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2678065	NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)	PRF1 (C73Y)	Single nucleotide variant (missense variant)	Aplastic anemia	GLikely pathogenic
Select item 2678062	NM_001083116.3(PRF1):c.941_948delinsA (p.Leu314fs)	PRF1 (L314fs)	Indel (frameshift variant)	Aplastic anemia	GPathogenic
Select item 2678061	NM_001083116.3(PRF1):c.1519G>T (p.Glu507Ter)	PRF1 (E507*)	Single nucleotide variant (nonsense)	Aplastic anemia	GPathogenic
Select item 2678058	NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)	PRF1 (G132R)	Single nucleotide variant (missense variant)	Aplastic anemia	GPathogenic
Select item 2678057	NM_001083116.3(PRF1):c.581dup (p.Arg195fs)	PRF1 (R195fs)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678055	NM_001083116.3(PRF1):c.478C>T (p.Gln160Ter)	PRF1 (Q160*)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2678054	NM_001083116.3(PRF1):c.982_998del (p.Trp328fs)	PRF1 (W328fs)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678053	NM_001083116.3(PRF1):c.523G>T (p.Glu175Ter)	PRF1 (E175*)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2678051	NM_001083116.3(PRF1):c.229_233dup (p.Asn78fs)	PRF1 (N78fs)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678050	NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)	PRF1 (H269fs)	Indel (frameshift variant)	Aplastic anemia	GPathogenic
Select item 2678048	NM_001083116.3(PRF1):c.1383G>A (p.Trp461Ter)	PRF1 (W461*)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2501794	NM_001083116.3(PRF1):c.880del (p.Gln294fs)	PRF1 (Q294fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2435240	NM_001083116.3(PRF1):c.352G>T (p.Ala118Ser)	PRF1 (A118S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435239	NM_001083116.3(PRF1):c.452A>T (p.His151Leu)	PRF1 (H151L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 931544	NM_001083116.3(PRF1):c.1585C>A (p.Leu529Met)	PRF1 (L529M)	Single nucleotide variant (missense variant)	Lymphoma, non-Hodgkin, familial	GUncertain significance
Select item 523032	NM_001083116.3(PRF1):c.1175del (p.Pro392fs)	PRF1 (P392fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely pathogenic
Select item 257404	NM_001083116.3(PRF1):c.539+22G>C	PRF1	Single nucleotide variant (intron variant)	Lymphoma, non-Hodgkin, familial +1 more	GLikely benign