Full data view for gene PSTPIP1

Information The variants shown are described using the NM_003978.3 transcript reference sequence.

104 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-782G>A r.(?) p.(=) Unknown - VUS g.77287133G>A - PSTPIP1(NM_001321137.1):c.3G>A (p.M1?) - PSTPIP1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-126G>T r.(?) p.(=) Unknown - likely benign g.77287789G>T - PSTPIP1(NM_001321137.1):c.70G>T (p.G24C) - PSTPIP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-124C>T r.(?) p.(=) Unknown - likely benign g.77287791C>T g.76995450C>T PSTPIP1(NM_001321137.1):c.72C>T (p.G24=) - PSTPIP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-65G>A r.(?) p.(=) Unknown - VUS g.77287850G>A - PSTPIP1(NM_001321137.1):c.131G>A (p.R44H) - PSTPIP1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-59C>A r.(?) p.(=) Unknown - VUS g.77287856C>A - PSTPIP1(NM_001321137.1):c.137C>A (p.A46D) - PSTPIP1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5T>C r.(?) p.(Met2Thr) Unknown - likely benign g.77287919T>C - PSTPIP1(NM_001321135.1):c.5T>C (p.M2T) - PSTPIP1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.37-2026A>G r.(=) p.(=) Unknown - benign g.77308463A>G g.77016122A>G PSTPIP1(NM_003978.3):c.37-2026A>G - PSTPIP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.37-1994C>G r.(=) p.(=) Unknown - likely benign g.77308495C>G g.77016154C>G PSTPIP1(NM_003978.3):c.37-1994C>G - PSTPIP1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59C>T r.(?) p.(Thr20Met) Unknown - likely benign g.77310511C>T g.77018170C>T PSTPIP1(NM_003978.3):c.59C>T (p.T20M) - PSTPIP1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.137+20del r.(=) p.(=) Unknown - likely benign g.77310609del - PSTPIP1(NM_003978.3):c.137+20delA - PSTPIP1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.138-72T>G r.(=) p.(=) Unknown - benign g.77310726T>G g.77018385T>G PSTPIP1(NM_003978.3):c.138-72T>G - PSTPIP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.147G>A r.(?) p.(Ala49=) Unknown - benign g.77310807G>A g.77018466G>A PSTPIP1(NM_001321136.1):c.120G>A (p.A40=), PSTPIP1(NM_003978.3):c.147G>A (p.A49=) - PSTPIP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147G>A r.(?) p.(Ala49=) Unknown - likely benign g.77310807G>A g.77018466G>A PSTPIP1(NM_001321136.1):c.120G>A (p.A40=), PSTPIP1(NM_003978.3):c.147G>A (p.A49=) - PSTPIP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149A>T r.(?) p.(Glu50Val) Unknown - VUS g.77310809A>T - PSTPIP1(NM_001321136.2):c.122A>T (p.E41V) - PSTPIP1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.154C>T r.(?) p.(Arg52Trp) Unknown - VUS g.77310814C>T - PSTPIP1(NM_003978.5):c.154C>T (p.R52W) - PSTPIP1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159C>T r.(?) p.(Tyr53=) Unknown - likely benign g.77310819C>T g.77018478C>T PSTPIP1(NM_003978.3):c.159C>T (p.Y53=) - PSTPIP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.203C>T r.(?) p.(Thr68Met) Unknown - benign g.77310863C>T g.77018522C>T PSTPIP1(NM_003978.3):c.203C>T (p.T68M) - PSTPIP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.212+12C>T r.(=) p.(=) Unknown - benign g.77310884C>T g.77018543C>T PSTPIP1(NM_003978.3):c.212+12C>T - PSTPIP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.236C>T r.(?) p.(Ser79Phe) Unknown - likely benign g.77317648C>T - PSTPIP1(NM_003978.3):c.236C>T (p.S79F) - PSTPIP1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247+10dup r.(=) p.(=) Unknown - likely benign g.77317669dup g.77025328dup PSTPIP1(NM_003978.3):c.247+10dupC - PSTPIP1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.247+20G>A r.(=) p.(=) Unknown - benign g.77317679G>A g.77025338G>A PSTPIP1(NM_003978.3):c.247+20G>A - PSTPIP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.248-66G>A r.(=) p.(=) Unknown - benign g.77317773G>A g.77025432G>A PSTPIP1(NM_003978.3):c.248-66G>A - PSTPIP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354+10G>A r.(=) p.(=) Unknown - likely benign g.77317955G>A g.77025614G>A PSTPIP1(NM_001321136.1):c.327+10G>A, PSTPIP1(NM_003978.3):c.354+10G>A - PSTPIP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354+10G>A r.(=) p.(=) Unknown - likely benign g.77317955G>A - PSTPIP1(NM_001321136.1):c.327+10G>A, PSTPIP1(NM_003978.3):c.354+10G>A - PSTPIP1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.354+20C>T r.(=) p.(=) Unknown - benign g.77317965C>T g.77025624C>T PSTPIP1(NM_003978.3):c.354+20C>T - PSTPIP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355-16C>G r.(=) p.(=) Unknown - likely benign g.77320177C>G g.77027836C>G PSTPIP1(NM_003978.3):c.355-16C>G - PSTPIP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355-12T>C r.(=) p.(=) Unknown - likely benign g.77320181T>C g.77027840T>C PSTPIP1(NM_003978.3):c.355-12T>C - PSTPIP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.418-20A>G r.(=) p.(=) Unknown - likely benign g.77320875A>G g.77028534A>G PSTPIP1(NM_003978.3):c.418-20A>G - PSTPIP1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.460G>T r.(?) p.(Ala154Ser) Unknown - VUS g.77320937G>T g.77028596G>T PSTPIP1(NM_001321136.1):c.433G>T (p.A145S), PSTPIP1(NM_003978.5):c.460G>T (p.A154S) - PSTPIP1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.460G>T r.(?) p.(Ala154Ser) Unknown - VUS g.77320937G>T - PSTPIP1(NM_001321136.1):c.433G>T (p.A145S), PSTPIP1(NM_003978.5):c.460G>T (p.A154S) - PSTPIP1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505C>T r.(?) p.(Gln169*) Unknown - VUS g.77320982C>T - - - PSTPIP1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537G>A r.(?) p.(Gln179=) Unknown - likely benign g.77321890G>A - PSTPIP1(NM_001321136.1):c.510G>A (p.Q170=) - PSTPIP1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Lys181=) Unknown - likely benign g.77321896G>A g.77029555G>A PSTPIP1(NM_001321136.1):c.516G>A (p.K172=), PSTPIP1(NM_003978.3):c.543G>A (p.K181=) - PSTPIP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Lys181=) Unknown - likely benign g.77321896G>A g.77029555G>A PSTPIP1(NM_001321136.1):c.516G>A (p.K172=), PSTPIP1(NM_003978.3):c.543G>A (p.K181=) - PSTPIP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555C>G r.(?) p.(Thr185=) Unknown - likely benign g.77321908C>G g.77029567C>G PSTPIP1(NM_001321136.1):c.528C>G (p.T176=) - PSTPIP1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.562+9G>A r.(=) p.(=) Unknown - likely benign g.77321924G>A g.77029583G>A PSTPIP1(NM_001321136.1):c.535+9G>A - PSTPIP1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.562+47G>A r.(=) p.(=) Unknown - likely benign g.77321962G>A g.77029621G>A PSTPIP1(NM_003978.3):c.562+47G>A - PSTPIP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.562+116C>T r.(=) p.(=) Unknown - benign g.77322031C>T g.77029690C>T PSTPIP1(NM_003978.3):c.562+116C>T - PSTPIP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.563-82G>A r.(=) p.(=) Unknown - benign g.77322761G>A g.77030420G>A PSTPIP1(NM_003978.3):c.563-82G>A - PSTPIP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600G>C r.(?) p.(Lys200Asn) Unknown - likely benign g.77322880G>C - PSTPIP1(NM_003978.3):c.600G>C (p.K200N) - PSTPIP1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629G>A r.(?) p.(Arg210Gln) Unknown - likely benign g.77322909G>A - PSTPIP1(NM_003978.5):c.629G>A (p.R210Q) - PSTPIP1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641A>G r.(?) p.(Glu214Gly) Unknown - VUS g.77322921A>G - PSTPIP1(NM_003978.5):c.641A>G (p.E214G) - PSTPIP1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.642+16G>A r.(=) p.(=) Unknown - benign g.77322938G>A g.77030597G>A PSTPIP1(NM_003978.3):c.642+16G>A - PSTPIP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.652C>T r.(?) p.(Leu218=) Unknown - benign g.77323530C>T g.77031189C>T PSTPIP1(NM_001321136.1):c.625C>T (p.L209=), PSTPIP1(NM_003978.3):c.652C>T (p.L218=) - PSTPIP1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.652C>T r.(?) p.(Leu218=) Unknown - likely benign g.77323530C>T - PSTPIP1(NM_001321136.1):c.625C>T (p.L209=), PSTPIP1(NM_003978.3):c.652C>T (p.L218=) - PSTPIP1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.655C>T r.(?) p.(Gln219Ter) Unknown - pathogenic g.77323533C>T g.77031192C>T PSTPIP1(NM_001321136.1):c.628C>T (p.Q210*) - PSTPIP1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.655C>T r.(?) p.(Gln219Ter) Unknown - VUS g.77323533C>T g.77031192C>T PSTPIP1(NM_001321136.1):c.628C>T (p.Q210*) - PSTPIP1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657A>C r.(?) p.(Gln219His) Unknown - likely benign g.77323535A>C - PSTPIP1(NM_003978.3):c.657A>C (p.Q219H) - PSTPIP1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682C>T r.(?) p.(Arg228Cys) Unknown - VUS g.77323560C>T g.77031219C>T PSTPIP1(NM_003978.3):c.682C>T (p.R228C) - PSTPIP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.687C>A r.(?) p.(Asn229Lys) Unknown - VUS g.77323565C>A - PSTPIP1(NM_001321136.1):c.660C>A (p.N220K) - PSTPIP1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.687C>T r.(?) p.(Asn229=) Unknown - likely benign g.77323565C>T g.77031224C>T PSTPIP1(NM_003978.3):c.687C>T (p.N229=) - PSTPIP1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.688G>A r.(?) p.(Ala230Thr) Unknown - pathogenic g.77323566G>A g.77031225G>A PSTPIP1(NM_003978.3):c.688G>A (p.A230T) - PSTPIP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.688G>A r.(?) p.(Ala230Thr) Unknown - pathogenic g.77323566G>A - PSTPIP1(NM_003978.3):c.688G>A (p.A230T) - PSTPIP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.741+41C>T r.(=) p.(=) Unknown - benign g.77323660C>T g.77031319C>T PSTPIP1(NM_003978.3):c.741+41C>T - PSTPIP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.748G>A r.(?) p.(Glu250Lys) Unknown - pathogenic g.77324645G>A g.77032304G>A PSTPIP1(NM_001321136.1):c.721G>A (p.E241K), PSTPIP1(NM_003978.3):c.748G>A (p.E250K) - PSTPIP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.748G>A r.(?) p.(Glu250Lys) Unknown - pathogenic g.77324645G>A g.77032304G>A PSTPIP1(NM_001321136.1):c.721G>A (p.E241K), PSTPIP1(NM_003978.3):c.748G>A (p.E250K) - PSTPIP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.748G>A r.(?) p.(Glu250Lys) Unknown - pathogenic g.77324645G>A - PSTPIP1(NM_001321136.1):c.721G>A (p.E241K), PSTPIP1(NM_003978.3):c.748G>A (p.E250K) - PSTPIP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.748G>C r.(?) p.(Glu250Gln) Unknown - pathogenic g.77324645G>C g.77032304G>C PSTPIP1(NM_003978.3):c.748G>C (p.E250Q) - PSTPIP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.773G>C r.(?) p.(Gly258Ala) Unknown - benign g.77324670G>C g.77032329G>C PSTPIP1(NM_003978.3):c.773G>C (p.(Gly258Ala), p.G258A) - PSTPIP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.773G>C r.(?) p.(Gly258Ala) Unknown - likely benign g.77324670G>C g.77032329G>C PSTPIP1(NM_003978.3):c.773G>C (p.(Gly258Ala), p.G258A) - PSTPIP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786C>T r.(?) p.(Asp262=) Unknown - likely benign g.77324683C>T g.77032342C>T PSTPIP1(NM_001321136.1):c.759C>T (p.D253=), PSTPIP1(NM_003978.3):c.786C>T (p.D262=) - PSTPIP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.786C>T r.(?) p.(Asp262=) Unknown - likely benign g.77324683C>T - PSTPIP1(NM_001321136.1):c.759C>T (p.D253=), PSTPIP1(NM_003978.3):c.786C>T (p.D262=) - PSTPIP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821C>T r.(?) p.(Thr274Met) Unknown - VUS g.77324718C>T g.77032377C>T PSTPIP1(NM_001321136.1):c.794C>T (p.T265M), PSTPIP1(NM_003978.3):c.821C>T (p.T274M) - PSTPIP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821C>T r.(?) p.(Thr274Met) Unknown - VUS g.77324718C>T - PSTPIP1(NM_001321136.1):c.794C>T (p.T265M), PSTPIP1(NM_003978.3):c.821C>T (p.T274M) - PSTPIP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.837C>T r.(?) p.(Pro279=) Unknown - likely benign g.77324734C>T g.77032393C>T PSTPIP1(NM_003978.3):c.837C>T (p.P279=) - PSTPIP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.837C>T r.(?) p.(Pro279=) Unknown - likely benign g.77324734C>T - PSTPIP1(NM_003978.3):c.837C>T (p.P279=) - PSTPIP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.838+1G>A r.spl? p.? Unknown - VUS g.77324736G>A - PSTPIP1(NM_003978.3):c.838+1G>A (p.?) - PSTPIP1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.839-12dup r.(=) p.(=) Unknown - likely benign g.77325191dup g.77032850dup PSTPIP1(NM_003978.3):c.839-12dupT - PSTPIP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.856A>G r.(?) p.(Asn286Asp) Unknown - likely benign g.77325220A>G g.77032879A>G PSTPIP1(NM_003978.3):c.856A>G (p.N286D) - PSTPIP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.865G>C r.(?) p.(Asp289His) Parent #1 ACMG VUS g.77325229G>C g.77032888G>C - - PSTPIP1_000075 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat126,1 PubMed: Stray-Pedersen 2017 - F - Ecuador - - - - - 1 Johan den Dunnen
-?/. - c.869G>A r.(?) p.(Arg290Gln) Unknown - likely benign g.77325233G>A - PSTPIP1(NM_003978.3):c.869G>A (p.(Arg290Gln)) - PSTPIP1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.908C>T r.(?) p.(Pro303Leu) Unknown - likely benign g.77325272C>T g.77032931C>T PSTPIP1(NM_003978.3):c.908C>T (p.P303L) - PSTPIP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915C>T r.(?) p.(Cys305=) Unknown - benign g.77325279C>T g.77032938C>T PSTPIP1(NM_003978.3):c.915C>T (p.C305=), PSTPIP1(NM_003978.5):c.915C>T (p.(Cys305=)) - PSTPIP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915C>T r.(=) p.(=) Parent #1 - benign g.77325279C>T g.77032938C>T - - PSTPIP1_000029 255 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11858480 Germline - 255/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 255 Mohammed Faruq
-/. - c.915C>T r.(=) p.(=) Both (homozygous) - benign g.77325279C>T g.77032938C>T - - PSTPIP1_000029 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11858480 Germline - 8/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.915C>T r.(?) p.(Cys305=) Unknown - likely benign g.77325279C>T - PSTPIP1(NM_003978.3):c.915C>T (p.C305=), PSTPIP1(NM_003978.5):c.915C>T (p.(Cys305=)) - PSTPIP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929+18G>A r.(=) p.(=) Unknown - likely benign g.77325311G>A g.77032970G>A PSTPIP1(NM_003978.3):c.929+18G>A - PSTPIP1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.940C>T r.(?) p.(Leu314=) Unknown - benign g.77327859C>T g.77035518C>T PSTPIP1(NM_003978.3):c.940C>T (p.L314=) - PSTPIP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.985+19G>T r.(=) p.(=) Unknown - likely benign g.77327923G>T - PSTPIP1(NM_003978.3):c.985+19G>T - PSTPIP1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.986-35dup r.(=) p.(=) Unknown - benign g.77328108dup g.77035767dup PSTPIP1(NM_003978.3):c.986-35dupG - PSTPIP1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986C>T r.(?) p.(Ala329Val) Unknown - VUS g.77328143C>T - PSTPIP1(NM_001321136.1):c.959C>T (p.A320V) - PSTPIP1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1019G>A r.(?) p.(Arg340Gln) Unknown - likely benign g.77328176G>A g.77035835G>A PSTPIP1(NM_003978.3):c.1019G>A (p.R340Q) - PSTPIP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1030G>A r.(?) p.(Val344Ile) Unknown - VUS g.77328187G>A g.77035846G>A PSTPIP1(NM_003978.3):c.1030G>A (p.V344I) - PSTPIP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1098G>A r.(?) p.(Ala366=) Unknown - benign g.77328255G>A g.77035914G>A PSTPIP1(NM_001321136.1):c.1071G>A (p.A357=), PSTPIP1(NM_003978.3):c.1098G>A (p.A366=) - PSTPIP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1098G>A r.(?) p.(Ala366=) Unknown - likely benign g.77328255G>A g.77035914G>A PSTPIP1(NM_001321136.1):c.1071G>A (p.A357=), PSTPIP1(NM_003978.3):c.1098G>A (p.A366=) - PSTPIP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1104C>T r.(?) p.(Tyr368=) Unknown - likely benign g.77328261C>T - PSTPIP1(NM_001321136.1):c.1077C>T (p.Y359=) - PSTPIP1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1112C>T r.(?) p.(Thr371Ile) Unknown - benign g.77328269C>T g.77035928C>T PSTPIP1(NM_001321136.1):c.1085C>T (p.T362I), PSTPIP1(NM_003978.3):c.1112C>T (p.T371I) - PSTPIP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112C>T r.(?) p.(Thr371Ile) Unknown - likely benign g.77328269C>T g.77035928C>T PSTPIP1(NM_001321136.1):c.1085C>T (p.T362I), PSTPIP1(NM_003978.3):c.1112C>T (p.T371I) - PSTPIP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115C>T r.(?) p.(Ala372Val) Unknown - likely benign g.77328272C>T g.77035931C>T PSTPIP1(NM_003978.5):c.1115C>T (p.A372V) - PSTPIP1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.1115C>T r.(?) p.(Ala372Val) Paternal (confirmed) ACMG VUS g.77328272C>T g.77035931C>T - - PSTPIP1_000051 relevant variant, not consistent with phenotype PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat3,1 PubMed: Stray-Pedersen 2017 - M - Ecuador - - - - - 1 Johan den Dunnen
?/. - c.1115del r.(?) p.(Ala372Glyfs*17) Unknown - VUS g.77328272del - PSTPIP1(NM_003978.3):c.1115delC (p.(Ala372fs)) - PSTPIP1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1120-20G>A r.(=) p.(=) Unknown - likely benign g.77329366G>A - PSTPIP1(NM_003978.3):c.1120-20G>A - PSTPIP1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1123C>G r.(?) p.(Pro375Ala) Unknown - likely benign g.77329389C>G - PSTPIP1(NM_003978.3):c.1123C>G (p.(Pro375Ala)) - PSTPIP1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1134G>A r.(?) p.(Leu378=) Unknown - benign g.77329400G>A g.77037059G>A PSTPIP1(NM_003978.3):c.1134G>A (p.L378=) - PSTPIP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1143C>T r.(?) p.(Ser381=) Unknown - likely benign g.77329409C>T g.77037068C>T PSTPIP1(NM_003978.3):c.1143C>T (p.S381=) - PSTPIP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1143C>T r.(?) p.(Ser381=) Unknown - likely benign g.77329409C>T g.77037068C>T PSTPIP1(NM_003978.3):c.1143C>T (p.S381=) - PSTPIP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1144G>A r.(?) p.(Ala382Thr) Unknown - likely benign g.77329410G>A g.77037069G>A PSTPIP1(NM_003978.3):c.1144G>A (p.A382T) - PSTPIP1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1151A>G r.(?) p.(Asp384Gly) Unknown - likely benign g.77329417A>G g.77037076A>G PSTPIP1(NM_001321136.1):c.1124A>G (p.D375G), PSTPIP1(NM_003978.3):c.1151A>G (p.D384G) - PSTPIP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1151A>G r.(?) p.(Asp384Gly) Unknown - likely benign g.77329417A>G - PSTPIP1(NM_001321136.1):c.1124A>G (p.D375G), PSTPIP1(NM_003978.3):c.1151A>G (p.D384G) - PSTPIP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1206C>T r.(?) p.(Asn402=) Unknown - benign g.77329472C>T - PSTPIP1(NM_003978.3):c.1206C>T (p.N402=) - PSTPIP1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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