Full data view for gene ITGAM

Information The variants shown are described using the NM_001145808.1 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-4088235_*545656dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-3171385_*3256972del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-/. - c.134+11T>C r.(=) p.(=) Unknown - benign g.31273129T>C g.31261808T>C ITGAM(NM_001145808.2):c.134+11T>C - ITGAM_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.252C>T r.(?) p.(Ala84=) Unknown - likely benign g.31277145C>T g.31265824C>T ITGAM(NM_001145808.1):c.252C>T (p.A84=) - ITGAM_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.737G>A r.(?) p.(Arg246Gln) Unknown - likely benign g.31284718G>A - ITGAM(NM_000632.4):c.737G>A (p.(Arg246Gln)) - ITGAM_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739A>G r.(?) p.(Lys247Glu) Unknown - likely benign g.31284720A>G g.31273399A>G ITGAM(NM_001145808.1):c.739A>G (p.K247E) - ITGAM_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.889C>T r.(?) p.(Arg297Cys) Unknown - VUS g.31286900C>T g.31275579C>T ITGAM(NM_001145808.2):c.889C>T (p.R297C) - ITGAM_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1141T>C r.(?) p.(Tyr381His) Unknown - likely benign g.31288298T>C g.31276977T>C ITGAM(NM_001145808.1):c.1141T>C (p.Y381H) - ITGAM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1356+10G>A r.(=) p.(=) Unknown - likely benign g.31289440G>A g.31278119G>A ITGAM(NM_001145808.1):c.1356+10G>A - ITGAM_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1357-10T>A r.(=) p.(=) Unknown - likely benign g.31308825T>A g.31297504T>A ITGAM(NM_001145808.1):c.1357-10T>A - ITGAM_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569A>T r.(?) p.(Ala523=) Unknown - likely benign g.31309134A>T g.31297813A>T ITGAM(NM_001145808.2):c.1569A>T (p.A523=) - ITGAM_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1610C>T r.(?) p.(Thr537Met) Unknown - VUS g.31309175C>T g.31297854C>T ITGAM(NM_001145808.1):c.1610C>T (p.T537M) - ITGAM_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 14i c.1710+530C>T r.(?) p.(=) Unknown - likely benign g.31309805C>T g.31298484C>T - - ITGAM_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2248C>T r.(?) p.(Arg750Trp) Unknown - VUS g.31336059C>T g.31324738C>T 2248C>T - ITGAM_000020 - PubMed: Duvvari 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat3AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
?/. - c.2293-6T>A r.(=) p.(=) Unknown - VUS g.31336273T>A - ITGAM(NM_000632.4):c.2290-6T>A - ITGAM_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2484C>A r.(?) p.(Ser828=) Unknown - likely benign g.31336701C>A g.31325380C>A ITGAM(NM_001145808.2):c.2484C>A (p.S828=) - ITGAM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2563G>A r.(?) p.(Glu855Lys) Unknown - likely benign g.31336875G>A g.31325554G>A ITGAM(NM_001145808.1):c.2563G>A (p.E855K) - ITGAM_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2576C>T r.(?) p.(Ala859Val) Unknown - benign g.31336888C>T g.31325567C>T ITGAM(NM_001145808.2):c.2576C>T (p.A859V) - ITGAM_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2600T>C r.(?) p.(Ile867Thr) Unknown - VUS g.31336912T>C g.31325591T>C ITGAM(NM_001145808.1):c.2600T>C (p.I867T) - ITGAM_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2856G>T r.(?) p.(Met952Ile) Unknown - likely benign g.31340609G>T g.31329288G>T ITGAM(NM_001145808.1):c.2856G>T (p.M952I) - ITGAM_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3002C>A r.(?) p.(Thr1001Asn) Parent #1 - benign g.31341424C>A g.31330103C>A - - ITGAM_000019 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41321249 Germline - 9/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.3008A>G r.(?) p.(Glu1003Gly) Unknown - VUS g.31341430A>G g.31330109A>G ITGAM(NM_001145808.1):c.3008A>G (p.E1003G) - ITGAM_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3390+12T>C r.(=) p.(=) Unknown - benign g.31342608T>C g.31331287T>C ITGAM(NM_001145808.2):c.3390+12T>C - ITGAM_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3439C>T r.(?) p.(Pro1147Ser) Unknown - benign g.31343005C>T g.31331684C>T ITGAM(NM_001145808.2):c.3439C>T (p.P1147S) - ITGAM_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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