Full data view for gene ZNF644

Information The variants shown are described using the NM_201269.2 transcript reference sequence.

51 entries on 1 page. Showing entries 1 - 51.
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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.107C>G r.(?) p.(Thr36Ser) Unknown - VUS g.91406804G>C g.90941247G>C ZNF644(NM_201269.2):c.107C>G (p.T36S) - ZNF644_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.107C>G r.(?) p.(Thr36Ser) Unknown - VUS g.91406804G>C g.90941247G>C ZNF644(NM_201269.2):c.107C>G (p.T36S) - ZNF644_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177A>G r.(?) p.(Pro59=) Unknown - likely benign g.91406734T>C - ZNF644(NM_201269.2):c.177A>G (p.P59=), ZNF644(NM_201269.3):c.177A>G (p.P59=) - ZNF644_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177A>G r.(?) p.(Pro59=) Unknown - likely benign g.91406734T>C - ZNF644(NM_201269.2):c.177A>G (p.P59=), ZNF644(NM_201269.3):c.177A>G (p.P59=) - ZNF644_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255C>T r.(?) p.(=) Unknown - likely benign g.91406656G>A - ZNF644(NM_201269.3):c.255C>T (p.N85=) - ZNF644_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.355C>G r.(?) p.(Pro119Ala) Unknown - VUS g.91406556G>C g.90940999G>C - - ZNF644_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.504A>T r.(?) p.(Lys168Asn) Unknown - VUS g.91406407T>A - - - ZNF644_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537A>G r.(?) p.(Ser179=) Unknown - likely benign g.91406374T>C g.90940817T>C ZNF644(NM_201269.2):c.537A>G (p.S179=) - ZNF644_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639G>A r.(?) p.(Lys213=) Unknown - likely benign g.91406272C>T g.90940715C>T ZNF644(NM_201269.2):c.639G>A (p.K213=), ZNF644(NM_201269.3):c.639G>A (p.K213=) - ZNF644_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639G>A r.(?) p.(Lys213=) Unknown - likely benign g.91406272C>T - ZNF644(NM_201269.2):c.639G>A (p.K213=), ZNF644(NM_201269.3):c.639G>A (p.K213=) - ZNF644_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.725C>T r.(?) p.(Thr242Met) Unknown - VUS g.91406186G>A g.90940629G>A ZNF644(NM_201269.2):c.725C>T (p.T242M), ZNF644(NM_201269.3):c.725C>T (p.T242M) - ZNF644_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.725C>T r.(?) p.(Thr242Met) Unknown - likely benign g.91406186G>A - ZNF644(NM_201269.2):c.725C>T (p.T242M), ZNF644(NM_201269.3):c.725C>T (p.T242M) - ZNF644_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801A>G r.(?) p.(Gln267=) Unknown - likely benign g.91406110T>C g.90940553T>C ZNF644(NM_201269.2):c.801A>G (p.Q267=), ZNF644(NM_201269.3):c.801A>G (p.Q267=) - ZNF644_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.801A>G r.(?) p.(Gln267=) Unknown - likely benign g.91406110T>C - ZNF644(NM_201269.2):c.801A>G (p.Q267=), ZNF644(NM_201269.3):c.801A>G (p.Q267=) - ZNF644_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.913G>A r.(?) p.(Glu305Lys) Parent #1 - pathogenic (dominant) g.91405998C>T g.90940441C>T - - ZNF644_000023 - PubMed: Liu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYP HM657 PubMed: Liu 2020 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.1230C>T r.(?) p.(Tyr410=) Unknown - likely benign g.91405681G>A g.90940124G>A ZNF644(NM_201269.2):c.1230C>T (p.Y410=) - ZNF644_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1271A>C r.(?) p.(His424Pro) Unknown - VUS g.91405640T>G - ZNF644(NM_201269.2):c.1271A>C (p.H424P) - ZNF644_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1344T>C r.(?) p.(Tyr448=) Unknown - likely benign g.91405567A>G - ZNF644(NM_201269.2):c.1344T>C (p.Y448=) - ZNF644_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1694A>G r.(?) p.(Lys565Arg) Unknown - VUS g.91405217T>C g.90939660T>C ZNF644(NM_201269.2):c.1694A>G (p.K565R) - ZNF644_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.1759A>G r.(?) p.(Ile587Val) Parent #1 - likely pathogenic g.91405152T>C g.90939595T>C 2091A>G; I587V - ZNF644_000001 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS007 M - - - - - - - 1 Johan den Dunnen
+?/. 3 c.1759A>G r.(?) p.(Ile587Val) Parent #1 - likely pathogenic g.91405152T>C g.90939595T>C 2091A>G; I587V - ZNF644_000001 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS103 F - - - - - - - 1 Johan den Dunnen
+?/. 3 c.1759A>G r.(?) p.(Ile587Val) Parent #1 - likely pathogenic g.91405152T>C g.90939595T>C 2091A>G; I587V - ZNF644_000001 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS104 M - - - - - - - 1 Johan den Dunnen
+?/. 3 c.1759A>G r.(?) p.(Ile587Val) Parent #1 - likely pathogenic g.91405152T>C g.90939595T>C 2091A>G; I587V - ZNF644_000001 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS078 F - - - - - - - 1 Johan den Dunnen
+?/. 3 c.1759A>G r.(?) p.(Ile587Val) Parent #1 - likely pathogenic g.91405152T>C g.90939595T>C 2091A>G; I587V - ZNF644_000001 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS131 M - - - - - - - 1 Johan den Dunnen
-?/. - c.1833A>C r.(?) p.(Ser611=) Unknown - likely benign g.91405078T>G - ZNF644(NM_201269.2):c.1833A>C (p.S611=) - ZNF644_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.2014A>G r.(?) p.(Ser672Gly) Parent #1 - likely pathogenic g.91404897T>C g.90939340T>C 2156A>G;S672G - ZNF644_000006 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 Family 951 F - - - - - - - 1 Johan den Dunnen
+?/. 3 c.2014A>G r.(?) p.(Ser672Gly) Parent #1 - likely pathogenic g.91404897T>C g.90939340T>C 2156A>G;S672G - ZNF644_000006 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 Family 951 F - - - - - - - 1 Johan den Dunnen
+?/. 3 c.2014A>G r.(?) p.(Ser672Gly) Parent #1 - likely pathogenic g.91404897T>C g.90939340T>C 2156A>G;S672G - ZNF644_000006 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 Family 951 M - - - - - - - 1 Johan den Dunnen
+?/. 3 c.2014A>G r.(?) p.(Ser672Gly) Parent #1 - likely pathogenic g.91404897T>C g.90939340T>C 2156A>G;S672G - ZNF644_000006 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 Family 951 F - - - - - - - 1 Johan den Dunnen
+?/. 3 c.2014A>G r.(?) p.(Ser672Gly) Parent #1 - likely pathogenic g.91404897T>C g.90939340T>C 2156A>G;S672G - ZNF644_000006 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 Family 951 M - - - - - - - 1 Johan den Dunnen
+?/. 3 c.2014A>G r.(?) p.(Ser672Gly) Parent #1 - likely pathogenic g.91404897T>C g.90939340T>C 2156A>G;S672G - ZNF644_000006 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 Family 951 F - - - - - - - 1 Johan den Dunnen
+?/. 3 c.2038C>G r.(?) p.(Arg680Gly) Parent #1 - likely pathogenic g.91404873G>C g.90939316G>C 2180C>G; R680G - ZNF644_000002 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS010 M - - - - - - - 1 Johan den Dunnen
?/. - c.2048G>C r.(?) p.(Arg683Thr) Unknown - VUS g.91404863C>G g.90939306C>G - - ZNF644_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.2096G>A r.(?) p.(Cys699Tyr) Parent #1 - likely pathogenic g.91404815C>T g.90939258C>T 2238G>A; C699Y - ZNF644_000003 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS064 F - - - - - - - 1 Johan den Dunnen
+?/. 3 c.2096G>A r.(?) p.(Cys699Tyr) Parent #1 - likely pathogenic g.91404815C>T g.90939258C>T 2238G>A; C699Y - ZNF644_000003 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS080 F - - - - - - - 1 Johan den Dunnen
-?/. - c.2119A>G r.(?) p.(Lys707Glu) Unknown - likely benign g.91404792T>C g.90939235T>C ZNF644(NM_201269.2):c.2119A>G (p.K707E), ZNF644(NM_201269.3):c.2119A>G (p.K707E) - ZNF644_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2119A>G r.(?) p.(Lys707Glu) Unknown - likely benign g.91404792T>C - ZNF644(NM_201269.2):c.2119A>G (p.K707E), ZNF644(NM_201269.3):c.2119A>G (p.K707E) - ZNF644_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2891C>T r.(?) p.(Ser964Leu) Unknown - VUS g.91404020G>A - ZNF644(NM_201269.2):c.2891C>T (p.S964L) - ZNF644_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3031C>G r.(?) p.(Gln1011Glu) Unknown - VUS g.91403880G>C g.90938323G>C - - ZNF644_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3060A>G r.(?) p.(Thr1020=) Unknown - likely benign g.91403851T>C g.90938294T>C ZNF644(NM_201269.2):c.3060A>G (p.T1020=) - ZNF644_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3195A>G r.(?) p.(Gly1065=) Unknown - likely benign g.91403535T>C - ZNF644(NM_201269.2):c.3195A>G (p.G1065=) - ZNF644_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3266A>G r.(?) p.(Tyr1089Cys) Parent #1 - pathogenic (dominant) g.91403464T>C g.90937907T>C - - ZNF644_000022 - PubMed: Liu 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYP HM601 PubMed: Liu 2020 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.3299G>A r.(?) p.(Arg1100His) Unknown - likely benign g.91403431C>T g.90937874C>T ZNF644(NM_201269.2):c.3299G>A (p.R1100H) - ZNF644_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3363T>C r.(?) p.(=) Unknown - likely benign g.91403367A>G - ZNF644(NM_201269.3):c.3363T>C (p.N1121=) - ZNF644_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3440T>C r.(?) p.(Leu1147Pro) Unknown - VUS g.91403290A>G g.90937733A>G ZNF644(NM_201269.2):c.3440T>C (p.L1147P) - ZNF644_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3862A>G r.(?) p.(Ile1288Val) Unknown - VUS g.91382477T>C g.90916920T>C ZNF644(NM_201269.2):c.3862A>G (p.I1288V) - ZNF644_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3862A>G r.(?) p.(Ile1288Val) Unknown - likely benign g.91382477T>C g.90916920T>C ZNF644(NM_201269.2):c.3862A>G (p.I1288V) - ZNF644_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3933C>T r.(?) p.(=) Unknown - likely benign g.91382406G>A - ZNF644(NM_201269.3):c.3933C>T (p.A1311=) - ZNF644_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.*12C>G r.(?) p.(=) Parent #1 - likely pathogenic g.91382343G>C g.90916786G>C 4138C>G; 3'UTR+12C>G - ZNF644_000004 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS075 M - - - - - - - 1 Johan den Dunnen
+?/. 6 c.*592G>A r.(?) p.(=) Parent #1 - likely pathogenic g.91381763C>T g.90916206C>T 41718G>A; 3'UTR+592G>A - ZNF644_000005 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS027 F - - - - - - - 1 Johan den Dunnen
+?/. 6 c.*592G>A r.(?) p.(=) Parent #1 - likely pathogenic g.91381763C>T g.90916206C>T 41718G>A; 3'UTR+592G>A - ZNF644_000005 - - - - Germline - - - - - DNA SEQ - - MYP21 - PubMed: Shi 2011 family JS047 M - - - - - - - 1 Johan den Dunnen
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