ClinVar for MedGen (Select 987194) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068022	NM_000892.5(KLKB1):c.940G>T (p.Gly314Ter)	KLKB1 (G112* +2 more)	Single nucleotide variant (nonsense)	Inherited prekallikrein deficiency	GLikely pathogenic
Select item 3065306	NM_000892.5(KLKB1):c.870del (p.Glu290fs)	KLKB1 (E252fs +2 more)	Deletion (frameshift variant)	Inherited prekallikrein deficiency	GLikely pathogenic
Select item 1803774	NM_000892.5(KLKB1):c.1196G>A (p.Trp399Ter)	KLKB1 (W197* +2 more)	Single nucleotide variant (nonsense)	Inherited prekallikrein deficiency	GPathogenic
Select item 1803727	NM_000892.5(KLKB1):c.143_221+128del	KLKB1	Deletion (splice donor variant)	Inherited prekallikrein deficiency	GPathogenic
Select item 1803725	NM_000892.5(KLKB1):c.1204_1205del (p.Trp402fs)	KLKB1 (W200fs +2 more)	Deletion (frameshift variant)	Inherited prekallikrein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1801471	NM_000892.5(KLKB1):c.689T>A (p.Ile230Asn)	KLKB1 (I192N +2 more)	Single nucleotide variant (missense variant)	Inherited prekallikrein deficiency	GLikely pathogenic
Select item 1696442	NM_000892.5(KLKB1):c.-2+1G>C	KLKB1	Single nucleotide variant (splice donor variant)	Inherited prekallikrein deficiency	GUncertain significance
Select item 791993	NM_000892.5(KLKB1):c.1072A>G (p.Thr358Ala)	KLKB1 (T320A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 791992	NM_000892.5(KLKB1):c.519A>G (p.Gly173=)	KLKB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 789581	NM_000892.5(KLKB1):c.808A>G (p.Thr270Ala)	KLKB1 (T270A +2 more)	Single nucleotide variant (missense variant)	Inherited prekallikrein deficiency +1 more	GBenign
Select item 711923	NM_000892.5(KLKB1):c.451dup (p.Ser151fs)	KLKB1 (S113fs +1 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 12035	NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr)	KLKB1 (C548Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inherited prekallikrein deficiency +1 more	GConflicting classifications of pathogenicity