Full data view for gene C19orf44

Information The variants shown are described using the NM_032207.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-733C>T r.(?) p.(=) Unknown - benign g.16606545C>T g.16495734C>T CALR3(NM_145046.4):c.193+17G>A, CALR3(NM_145046.5):c.193+17G>A - CALR3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-733C>T r.(?) p.(=) Unknown - benign g.16606545C>T g.16495734C>T CALR3(NM_145046.4):c.193+17G>A, CALR3(NM_145046.5):c.193+17G>A - CALR3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-732_-731del r.(?) p.(=) Unknown - benign g.16606546_16606547del - CALR3(NM_145046.5):c.193+15_193+16delAG - C19orf44_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-686T>C r.(?) p.(=) Unknown - likely benign g.16606592T>C g.16495781T>C CALR3(NM_145046.5):c.163A>G (p.K55E) - CALR3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-682C>T r.(?) p.(=) Unknown - likely benign g.16606596C>T g.16495785C>T CALR3(NM_145046.4):c.159G>A (p.S53=), CALR3(NM_145046.5):c.159G>A (p.S53=) - CALR3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-682C>T r.(?) p.(=) Unknown - benign g.16606596C>T - CALR3(NM_145046.4):c.159G>A (p.S53=), CALR3(NM_145046.5):c.159G>A (p.S53=) - CALR3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-678G>A r.(?) p.(=) Unknown - VUS g.16606600G>A - CALR3(NM_145046.5):c.155C>T (p.S52L) - C19orf44_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-675dup r.(?) p.(=) Unknown - VUS g.16606603dup g.16495792dup CALR3(NM_145046.4):c.154dupT (p.S52Ffs*9) - C19orf44_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-667dup r.(?) p.(=) Unknown - VUS g.16606611dup g.16495800dup CALR3(NM_145046.5):c.143delAinsAT (p.R50*), CALR3(NM_145046.5):c.147dupT (p.R50*) - CALR3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-648T>C r.(?) p.(=) Unknown - benign g.16606630T>C g.16495819T>C CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S) - C19orf44_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-648T>C r.(?) p.(=) Unknown - likely benign g.16606630T>C g.16495819T>C CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S) - C19orf44_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-648T>C r.(?) p.(=) Unknown - likely benign g.16606630T>C g.16495819T>C CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S) - C19orf44_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-648T>C r.(?) p.(=) Unknown - likely benign g.16606630T>C g.16495819T>C CALR3(NM_145046.4):c.125A>G (p.N42S), CALR3(NM_145046.5):c.125A>G (p.N42S) - C19orf44_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-619A>G r.(?) p.(=) Unknown - benign g.16606659A>G g.16495848A>G CALR3(NM_145046.4):c.96T>C (p.H32=), CALR3(NM_145046.5):c.96T>C (p.H32=) - CALR3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-619A>G r.(?) p.(=) Unknown - likely benign g.16606659A>G - CALR3(NM_145046.4):c.96T>C (p.H32=), CALR3(NM_145046.5):c.96T>C (p.H32=) - CALR3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-604G>A r.(?) p.(=) Unknown - benign g.16606674G>A g.16495863G>A CALR3(NM_145046.5):c.92-11C>T - CALR3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-595A>G r.(?) p.(=) Unknown - benign g.16606683A>G g.16495872A>G CALR3(NM_145046.5):c.92-20T>C - CALR3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-457C>T r.(?) p.(=) Unknown - benign g.16606821C>T g.16496010C>T CALR3(NM_145046.4):c.91+29G>A - C19orf44_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-445G>T r.(?) p.(=) Unknown - benign g.16606833G>T - CALR3(NM_145046.5):c.91+17C>A - C19orf44_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-409T>C r.(?) p.(=) Unknown - VUS g.16606869T>C g.16496058T>C CALR3(NM_145046.4):c.72A>G (p.Q24=) - CALR3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-397G>C r.(?) p.(=) Unknown - benign g.16606881G>C g.16496070G>C CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=) - CALR3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-397G>C r.(?) p.(=) Unknown - likely benign g.16606881G>C g.16496070G>C CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=) - CALR3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-397G>C r.(?) p.(=) Unknown - likely benign g.16606881G>C g.16496070G>C CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=) - CALR3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-397G>C r.(?) p.(=) Unknown - likely benign g.16606881G>C g.16496070G>C CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=) - CALR3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-397G>C r.(?) p.(=) Unknown - likely benign g.16606881G>C g.16496070G>C CALR3(NM_145046.4):c.60C>G (p.T20=), CALR3(NM_145046.5):c.60C>G (p.T20=) - CALR3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-376C>A r.(?) p.(=) Unknown - likely benign g.16606902C>A - CALR3(NM_145046.4):c.39G>T (p.M13I) - C19orf44_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-368T>C r.(?) p.(=) Unknown - likely benign g.16606910T>C g.16496099T>C CALR3(NM_145046.4):c.31A>G (p.I11V) - CALR3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-368T>G r.(?) p.(=) Unknown - VUS g.16606910T>G g.16496099T>G CALR3(NM_145046.5):c.31A>C (p.I11L) - CALR3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-368T>G r.(?) p.(=) Unknown - VUS g.16606910T>G - CALR3(NM_145046.5):c.31A>C (p.I11L) - CALR3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-358C>G r.(?) p.(=) Unknown - VUS g.16606920C>G - CALR3(NM_145046.5):c.21G>C (p.Q7H) - CALR3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-333G>A r.(?) p.(=) Unknown - benign g.16606945G>A - CALR3(NM_145046.5):c.-5C>T - C19orf44_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-332T>A r.(?) p.(=) Unknown - benign g.16606946T>A - CALR3(NM_145046.5):c.-6A>T - C19orf44_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-327A>C r.(?) p.(=) Unknown - benign g.16606951A>C g.16496140A>C CALR3(NM_145046.5):c.-11T>G - CALR3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-324G>A r.(?) p.(=) Unknown - VUS g.16606954G>A g.16496143G>A CALR3(NM_145046.4):c.-14C>T - CALR3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.265C>T r.(?) p.(Arg89*) Parent #2 ACMG likely pathogenic (recessive) g.16611868C>T g.16501057C>T - - C19orf44_000010 ACMG PS4, PM4 PubMed: Ehrenberg 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS RD GC32213 PubMed: Ehrenberg 2025 2-generation family, 1 affected, unaffected parents F no Iraq Kurdish - - - - 1 Tamar Ben-Yosef
+/. 2 c.358_365del r.(?) p.(Ser120Argfs*10) Parent #1 ACMG likely pathogenic (recessive) g.16611961_16611968del g.16501150_16501157del - - C19orf44_000012 ACMG PS4, PM4 PubMed: Ehrenberg 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS RD GC20987 PubMed: Ehrenberg 2025 2-generation family, 1 affected, unaffected parents M no United Kingdom (Great Britain) - - - - - 1 Tamar Ben-Yosef
+/. 2 c.549_550del r.(?) p.(Ser185Profs*2) Both (homozygous) ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Unknown ? - - - - DNA SEQ-NG - WES RD TB752 PubMed: Ehrenberg 2025 3-generation family, 1 affected, unaffected parents M yes Israel Yemenite Jewish - - - - 1 Tamar Ben-Yosef
+/. 2 c.549_550del r.(?) p.(Ser185Profs*2) Both (homozygous) ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Unknown - - - - - DNA SEQ-NG - WES RD TB1002 PubMed: Ehrenberg 2025 2-generation family, 1 affected, unaffected parents M no Israel Yemenite Jewish - - - - 1 Tamar Ben-Yosef
+/. 2 c.549_550del r.(?) p.(Ser185Profs*2) Both (homozygous) ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Unknown ? - - - - DNA SEQ-NG - WES RD TB777 PubMed: Ehrenberg 2025 2-generation family, 1 affected, unaffected parents M no Israel Ashkenazi Jewish - - - - 1 Tamar Ben-Yosef
+/. 2 c.549_550del r.(?) p.(Ser185Profs*2) Both (homozygous) ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Unknown - - - - - DNA SEQ-NG - WES RD MOL311 PubMed: Ehrenberg 2025 3-generation family, 1 affected, unaffected parents M yes Israel Ashkenazi Jewish - - - - 1 Tamar Ben-Yosef
+/. 2 c.549_550del r.(?) p.(Ser185Profs*2) Both (homozygous) ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Unknown ? - - - - DNA SEQ-NG - WES RD MOL2388 PubMed: Ehrenberg 2025 2-generation family, 1 affected, unaffected parents F no Israel Yemenite Jewish - - - - 1 Tamar Ben-Yosef
+/. 2 c.549_550del r.(?) p.(Ser185Profs*2) Both (homozygous) ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Germline yes - - - - DNA SEQ-NG WES - RD TB1441-1 PubMed: Ehrenberg 2025 2-generation family, 3 affected sisters, unaffected parents F no Israel Yemenite Jewish - - - - 3 Tamar Ben-Yosef
+/. 2 c.549_550del r.(?) p.(Ser185Profs*2) Unknown ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Unknown - - - - - DNA SEQ - - RD TB1334 PubMed: Ehrenberg 2025 2-generation family, 1 affected, unaffected parents M no Israel Yemenite Jewish - - - - 1 Tamar Ben-Yosef
+/. 2 c.549_550del r.(?) p.(Ser185Profs*2) Both (homozygous) ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Unknown ? - - - - DNA SEQ-NG - WGS RD GC22684 PubMed: Ehrenberg 2025 2-generation family, 1 affected, unaffected parents M yes Iran - - - - - 1 Tamar Ben-Yosef
+/. 2 c.549_550del r.(?) p.(Ser185Profs*2) Parent #1 ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Germline - - - - - DNA SEQ-NG - WGS RD GC32213 PubMed: Ehrenberg 2025 2-generation family, 1 affected, unaffected parents F no Iraq Kurdish - - - - 1 Tamar Ben-Yosef
+/. - c.549_550del r.(?) p.(Ser185Profs*2) Both (homozygous) ACMG likely pathogenic (recessive) g.16612152_16612153del g.16501341_16501342del - - C19orf44_000009 ACMG PS4, PM4, PP1 PubMed: Ehrenberg 2025 - - Germline - - - - - DNA SEQ - - RD OGI838 PubMed: Ehrenberg 2025 2-generation family, 3 affected (2f, M), unaffected parents F;M - United States jew-Ashkenazi - - - - 3 Johan den Dunnen
+/. 3 c.969_970del r.(?) p.(Ser325Phefs*16) Parent #2 ACMG likely pathogenic (recessive) g.16614085_16614086del g.16503274_16503275del - - C19orf44_000011 ACMG PS4, PM4 PubMed: Ehrenberg 2025 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS RD GC20987 PubMed: Ehrenberg 2025 2-generation family, 1 affected, unaffected parents M no United Kingdom (Great Britain) - - - - - 1 Tamar Ben-Yosef
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