All variants in the PNKD gene

Information The variants shown are described using the NM_001077399.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-4583T>C r.(?) p.(=) - likely benign g.219130676T>C g.218265953T>C AAMP(NM_001087.3):c.764-7A>G (p.(=)) - AAMP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.16G>A r.(?) p.(Ala6Thr) - VUS g.219135274G>A g.218270551G>A PNKD(NM_015488.4):c.16G>A (p.A6T) - AAMP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.26C>T r.(?) p.(Ala9Val) - likely pathogenic g.219135284C>T - - - AAMP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.57C>T r.(?) p.(Arg19=) - likely benign g.219135315C>T g.218270592C>T PNKD(NM_015488.4):c.57C>T (p.R19=) - PNKD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.97G>C r.(?) p.(Ala33Pro) - benign g.219136133G>C g.218271410G>C - - PNKD_000016 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434513 Germline - 21/2794 individuals - - - Mohammed Faruq
+?/. - c.98C>A r.(?) p.(Ala33Asp) - likely pathogenic g.219136134C>A g.218271411C>A - - PNKD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.285G>A r.(?) p.(Arg95=) - likely benign g.219137341G>A - PNKD(NM_001077399.2):c.285G>A (p.R95=) - AAMP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.362G>A r.(?) p.(Ser121Asn) - VUS g.219137418G>A - PNKD(NM_001077399.2):c.362G>A (p.S121N) - AAMP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.395C>T r.(?) p.(Pro132Leu) - likely benign g.219137451C>T g.218272728C>T PNKD(NM_001077399.2):c.395C>T (p.P132L, p.(Pro132Leu)) - AAMP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.395C>T r.(?) p.(Pro132Leu) - likely benign g.219137451C>T - PNKD(NM_001077399.2):c.395C>T (p.P132L, p.(Pro132Leu)) - AAMP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.396G>A r.(?) p.(Pro132=) - likely benign g.219137452G>A g.218272729G>A PNKD(NM_001077399.2):c.396G>A (p.P132=), PNKD(NM_001077399.3):c.396G>A (p.P132=) - PNKD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.396G>A r.(?) p.(Pro132=) - benign g.219137452G>A g.218272729G>A PNKD(NM_001077399.2):c.396G>A (p.P132=), PNKD(NM_001077399.3):c.396G>A (p.P132=) - PNKD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*4885C>T r.(=) p.(=) - likely benign g.219142370C>T - PNKD(NM_015488.5):c.236+6098C>T - PNKD_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*9252G>A r.(=) p.(=) - likely benign g.219146737G>A - PNKD(NM_015488.5):c.236+10465G>A - PNKD_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*9357G>C r.(=) p.(=) - likely benign g.219146842G>C - PNKD(NM_015488.5):c.236+10570G>C - PNKD_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*50610G>T r.(=) p.(=) - likely benign g.219188095G>T g.218323372G>T PNKD(NM_022572.4):c.105G>T (p.A35=) - PNKD_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*50647C>T r.(=) p.(=) - VUS g.219188132C>T g.218323409C>T PNKD(NM_022572.4):c.142C>T (p.Q48*) - PNKD_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*67012G>A r.(=) p.(=) - likely benign g.219204497G>A g.218339774G>A PNKD(NM_015488.4):c.237-9G>A - PNKD_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*67038G>A r.(=) p.(=) - likely benign g.219204523G>A - PNKD(NM_015488.5):c.254G>A (p.R85H) - PNKD_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*67049G>A r.(=) p.(=) - likely benign g.219204534G>A g.218339811G>A PNKD(NM_015488.4):c.265G>A (p.G89R, p.(Gly89Arg)), PNKD(NM_015488.5):c.265G>A (p.G89R) - PNKD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*67049G>A r.(=) p.(=) - likely benign g.219204534G>A g.218339811G>A PNKD(NM_015488.4):c.265G>A (p.G89R, p.(Gly89Arg)), PNKD(NM_015488.5):c.265G>A (p.G89R) - PNKD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*67049G>A r.(=) p.(=) - likely benign g.219204534G>A - PNKD(NM_015488.4):c.265G>A (p.G89R, p.(Gly89Arg)), PNKD(NM_015488.5):c.265G>A (p.G89R) - PNKD_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*67077G>A r.(=) p.(=) - VUS g.219204562G>A - PNKD(NM_015488.4):c.293G>A (p.R98H), PNKD(NM_015488.5):c.293G>A (p.R98H) - PNKD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*67077G>A r.(=) p.(=) - VUS g.219204562G>A - PNKD(NM_015488.4):c.293G>A (p.R98H), PNKD(NM_015488.5):c.293G>A (p.R98H) - PNKD_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*67077G>T r.(=) p.(=) - VUS g.219204562G>T g.218339839G>T PNKD(NM_015488.4):c.293G>T (p.(Arg98Leu)) - PNKD_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*67086G>C r.(=) p.(=) - VUS g.219204571G>C - PNKD(NM_015488.4):c.302G>C (p.R101P) - PNKD_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*67092G>A r.(=) p.(=) - VUS g.219204577G>A g.218339854G>A PNKD(NM_015488.4):c.308G>A (p.R103H) - PNKD_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*67096_*67100del r.(=) p.(=) - VUS g.219204581_219204585del - PNKD(NM_015488.4):c.312_316delCCCTA (p.(Tyr104fs)) - PNKD_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*67325_*67330del r.(=) p.(=) - VUS g.219204810_219204815del g.218340087_218340092del PNKD(NM_015488.5):c.411_416delCACCCA (p.D137_Q139delinsE) - PNKD_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*67356C>A r.(=) p.(=) - VUS g.219204841C>A g.218340118C>A PNKD(NM_015488.4):c.442C>A (p.(Pro148Thr)) - PNKD_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.*67986G>A r.(=) p.(=) - benign g.219205471G>A g.218340748G>A PNKD(NM_015488.4):c.486G>A (p.G162=) - PNKD_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*69331A>G r.(=) p.(=) - likely benign g.219206816A>G - PNKD(NM_015488.4):c.730A>G (p.K244E) - PNKD_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*70722_*70729del r.(=) p.(=) - VUS g.219208207_219208214del - PNKD(NM_015488.5):c.782-16_782-9del - PNKD_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*70791C>T r.(=) p.(=) - likely benign g.219208276C>T g.218343553C>T PNKD(NM_015488.4):c.835C>T (p.L279=) - PNKD_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*71711A>G r.(=) p.(=) - VUS g.219209196A>G g.218344473A>G PNKD(NM_015488.4):c.887A>G (p.(Glu296Gly)) - PNKD_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*71743G>A r.(=) p.(=) - likely benign g.219209228G>A - PNKD(NM_015488.5):c.919G>A (p.E307K) - PNKD_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.*72129G>A r.(=) p.(=) - likely benign g.219209614G>A - PNKD(NM_015488.4):c.1068G>A (p.P356=) - PNKD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*72188G>A r.(=) p.(=) - VUS g.219209673G>A - PNKD(NM_015488.5):c.1127G>A (p.(Arg376His)) - PNKD_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*72201_*72206del r.(=) p.(=) - VUS g.219209686_219209691del g.218344963_218344968del PNKD(NM_015488.4):c.1140_1145delTATGCA (p.M381_H382del), PNKD(NM_015488.5):c.1140_1145delTATGCA (p.M381_H382del) - PNKD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*72201_*72206del r.(=) p.(=) - likely benign g.219209686_219209691del g.218344963_218344968del PNKD(NM_015488.4):c.1140_1145delTATGCA (p.M381_H382del), PNKD(NM_015488.5):c.1140_1145delTATGCA (p.M381_H382del) - PNKD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.*72201_*72206del r.(=) p.(=) - VUS g.219209686_219209691del - PNKD(NM_015488.4):c.1140_1145delTATGCA (p.M381_H382del), PNKD(NM_015488.5):c.1140_1145delTATGCA (p.M381_H382del) - PNKD_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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