"GeneDx"[submitter] AND "KLKB1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 152921	GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3	ANKRD37, CCDC110 +69 more	Copy number gain	See cases	GPathogenic
Select item 57915	GRCh38/hg38 4q35.1-35.2(chr4:185738786-186557156)x3	CYP4V2, F11 +18 more	Copy number gain	See cases	GUncertain significance
Select item 348351	NM_207352.4(CYP4V2):c.*1236A>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 903416	NM_207352.4(CYP4V2):c.*1503A>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 348354	NM_207352.4(CYP4V2):c.*1638G>A	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +2 more	GBenign/Likely benign
Select item 348357	NM_207352.4(CYP4V2):c.*1781A>C	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	Bietti crystalline corneoretinal dystrophy +2 more	GBenign
Select item 348364	NM_207352.4(CYP4V2):c.*2399C>T	CYP4V2, KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1275028	NM_000892.5(KLKB1):c.-1-116T>C	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263748	NM_000892.5(KLKB1):c.58+133G>A	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280555	NM_000892.5(KLKB1):c.221+68T>C	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275106	NM_000892.5(KLKB1):c.222-233T>C	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242893	NM_000892.5(KLKB1):c.328+276G>A	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 12037	NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn)	KLKB1 (S143N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 711923	NM_000892.5(KLKB1):c.451dup (p.Ser151fs)	KLKB1 (S113fs +1 more)	Duplication (frameshift variant +1 more)	Inherited prekallikrein deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1249956	NM_000892.5(KLKB1):c.489-128G>C	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262208	NM_000892.5(KLKB1):c.599-42A>G	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274237	NM_000892.5(KLKB1):c.759-93G>A	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238651	NM_000892.5(KLKB1):c.1141T>G (p.Ser381Ala)	KLKB1 (S179A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1255295	NM_000892.5(KLKB1):c.1313+149A>G	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262660	NM_000892.5(KLKB1):c.1313+207G>A	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252804	NM_000892.5(KLKB1):c.1313+232G>C	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242256	NM_000892.5(KLKB1):c.1314-285C>T	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249971	NM_000892.5(KLKB1):c.1314-20T>A	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220736	NM_000892.5(KLKB1):c.1490-287G>A	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230884	NM_000892.5(KLKB1):c.1586-238TC[5]	KLKB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1268702	NM_000892.5(KLKB1):c.1586-228_1586-227insGTGT	KLKB1	Insertion (intron variant)	not provided	GBenign
Select item 1270814	NM_000892.5(KLKB1):c.1586-227_1586-224del	KLKB1	Deletion (intron variant)	not provided	GBenign
Select item 1247600	NM_000892.5(KLKB1):c.1586-227C>G	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233074	NM_000892.5(KLKB1):c.1586-194C>T	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266642	NM_000892.5(KLKB1):c.1586-80T>C	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 1297284	NM_000892.5(KLKB1):c.1679G>A (p.Arg560Gln)	KLKB1 (R358Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1231245	NM_000892.5(KLKB1):c.1725+80C>T	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273541	NM_000892.5(KLKB1):c.1725+94A>T	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239062	NM_000892.5(KLKB1):c.1725+268_1725+269insTTT	KLKB1	Insertion (intron variant)	not provided	GBenign
Select item 1243581	NM_000892.5(KLKB1):c.1725+269A>G	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268061	NM_000892.5(KLKB1):c.1725+313C>G	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272286	NM_000892.5(KLKB1):c.1726-276GT[11]	KLKB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1182824	NM_000892.5(KLKB1):c.1726-215A>G	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242736	NM_000892.5(KLKB1):c.1726-40T>C	KLKB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273364	NM_000892.5(KLKB1):c.1761T>C (p.Asn587=)	KLKB1 (W503R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1278744	NM_000892.5(KLKB1):c.*120A>G	KLKB1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253676	GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1	ANKRD37, CCDC110 +19 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253508	GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1	ACSL1, AGA +43 more	Copy number loss	See cases	GPathogenic
Select item 253406	GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1	ACSL1, AGA +37 more	Copy number loss	See cases	GPathogenic

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Items: 48