Variants in gene PKHD1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 40

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HGVS	dbSNP	gnomAD frequency
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)	rs398124495	0.00011
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)	rs201105958	0.00009
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)	rs200511261	0.00005
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)	rs758352210	0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu)	rs199531851	0.00004
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)	rs753307105	0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)	rs776060304	0.00004
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)	rs137852948	0.00003
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)	rs774290802	0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly)	rs369626030	0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)	rs398124497	0.00002
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)	rs777377414	0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)	rs747170980	0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter)	rs761704401	0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)	rs144193508	0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)	rs369292828	0.00001
NM_138694.4(PKHD1):c.2180A>G (p.Asn727Ser)	rs727504090	0.00001
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)	rs777158800	0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile)	rs747895516	0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)	rs748540413	0.00001
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)	rs1278235097	0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)	rs752994816	0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)	rs764880309	0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)	rs747322128	0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)	rs1242089464	0.00001
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser)	rs1554176504
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)	rs1385935333
NM_138694.4(PKHD1):c.1233+1G>A	rs886061623
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)	rs777183511
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)	rs370277502
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	rs746972457
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)	rs1581809655
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)	rs1210846081
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)	rs201881567
NM_138694.4(PKHD1):c.737T>C (p.Ile246Thr)	rs1037991711
NM_138694.4(PKHD1):c.810C>A (p.Ser270Arg)	rs754448530
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)	rs1554232224
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)	rs770068023
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)	rs1288017883
NM_138694.4(PKHD1):c.9371A>C (p.His3124Pro)	rs373241537

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