ClinVar for MedGen (Select 905078) - ClinVar

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Items: 25

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24448811.	NM_006060.6(IKZF1):c.880G>C (p.Asp294His) GRCh37: Chr7:50467645 GRCh38: Chr7:50399947	IKZF1	D109H, D141H, D151H, D155H, D165H, D197H, D207H, D252H, D294H, D314H, D64H, D99H	Pancytopenia due to IKZF1 mutations	Uncertain significance (Feb 27, 2023)	criteria provided, single submitter
Select item 24443672.	NM_006060.6(IKZF1):c.1275dup (p.Leu426fs) GRCh37: Chr7:50468037-50468038 GRCh38: Chr7:50400339-50400340	IKZF1	L196fs, L231fs, L241fs, L273fs, L283fs, L287fs, L297fs, L329fs, L339fs, L384fs, L426fs	Pancytopenia due to IKZF1 mutations	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24328393.	NM_006060.6(IKZF1):c.589+1G>A GRCh37: Chr7:50450406 GRCh38: Chr7:50382708	IKZF1		Pancytopenia due to IKZF1 mutations	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 16836354.	NM_006060.6(IKZF1):c.369G>A (p.Gly123=) GRCh37: Chr7:50444439 GRCh38: Chr7:50376741	IKZF1		not provided, Pancytopenia due to IKZF1 mutations	Uncertain significance (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13423365.	NM_006060.6(IKZF1):c.1076C>T (p.Pro359Leu) GRCh37: Chr7:50467841 GRCh38: Chr7:50400143	IKZF1	P129L, P164L, P174L, P206L, P216L, P220L, P230L, P262L, P272L, P317L, P359L	Pancytopenia due to IKZF1 mutations	Uncertain significance (Mar 26, 2021)	criteria provided, single submitter
Select item 13202806.	NM_006060.6(IKZF1):c.1047G>C (p.Gln349His) GRCh37: Chr7:50467812 GRCh38: Chr7:50400114	IKZF1	Q119H, Q154H, Q164H, Q196H, Q206H, Q210H, Q220H, Q252H, Q262H, Q307H, Q349H	Pancytopenia due to IKZF1 mutations, Acute lymphoid leukemia	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12997107.	NM_006060.6(IKZF1):c.161-8198A>G GRCh37: Chr7:50436033 GRCh38: Chr7:50368335	IKZF1	R164G	not specified, Pancytopenia due to IKZF1 mutations	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12855408.	NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) GRCh37: Chr7:50450346 GRCh38: Chr7:50382648	IKZF1	L177P, L90P	Pancytopenia due to IKZF1 mutations, Acute lymphoid leukemia	Likely pathogenic (Sep 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12702209.	NM_006060.6(IKZF1):c.1002C>A (p.Pro334=) GRCh37: Chr7:50467767 GRCh38: Chr7:50400069	IKZF1		not provided, Pancytopenia due to IKZF1 mutations, not specified	Benign (Nov 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 103240310.	NM_006060.6(IKZF1):c.715+167C>T GRCh37: Chr7:50455335 GRCh38: Chr7:50387637	IKZF1		Pancytopenia due to IKZF1 mutations	Uncertain significance (May 8, 2018)	criteria provided, single submitter
Select item 99684811.	NM_006060.6(IKZF1):c.161-15019A>G GRCh37: Chr7:50429212 GRCh38: Chr7:50361514	IKZF1		Pancytopenia due to IKZF1 mutations	Uncertain significance (Jul 9, 2020)	criteria provided, single submitter
Select item 97710412.	NM_006060.6(IKZF1):c.548G>A (p.Arg183His) GRCh37: Chr7:50450364 GRCh38: Chr7:50382666	IKZF1	R183H, R96H	Pancytopenia due to IKZF1 mutations, not provided	Conflicting interpretations of pathogenicity (Dec 9, 2022)	criteria provided, conflicting interpretations
Select item 82770913.	NM_006060.6(IKZF1):c.476A>G (p.Asn159Ser) GRCh37: Chr7:50450292 GRCh38: Chr7:50382594	IKZF1	N159S, N72S	Inherited Immunodeficiency Diseases, not provided	Pathogenic (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81101714.	NM_006060.6(IKZF1):c.161-8328C>A GRCh37: Chr7:50435903 GRCh38: Chr7:50368205	IKZF1		Pancytopenia due to IKZF1 mutations	Benign (Apr 5, 2019)	criteria provided, single submitter
Select item 69211215.	NM_006060.6(IKZF1):c.546C>A (p.Cys182Ter) GRCh37: Chr7:50450362 GRCh38: Chr7:50382664	IKZF1	C182, C95	Pancytopenia due to IKZF1 mutations	Pathogenic (May 16, 2019)	criteria provided, single submitter
Select item 54893216.	NM_006060.6(IKZF1):c.64G>A (p.Asp22Asn) GRCh37: Chr7:50367257 GRCh38: Chr7:50327661	IKZF1	D22N	not provided, Pancytopenia due to IKZF1 mutations	Conflicting interpretations of pathogenicity (Aug 29, 2019)	criteria provided, conflicting interpretations
Select item 54870517.	NM_006060.6(IKZF1):c.814G>A (p.Ala272Thr) GRCh37: Chr7:50459525 GRCh38: Chr7:50391827	IKZF1	A272T, A129T, A143T, A185T, A87T, A230T	Pancytopenia due to IKZF1 mutations, not specified	Conflicting interpretations of pathogenicity (Aug 3, 2018)	criteria provided, conflicting interpretations
Select item 42861118.	NM_006060.6(IKZF1):c.584A>G (p.His195Arg) GRCh37: Chr7:50450400 GRCh38: Chr7:50382702	IKZF1	H108R, H195R	Pancytopenia due to IKZF1 mutations	Pathogenic (Apr 5, 2017)	criteria provided, single submitter
Select item 42324919.	NM_006060.6(IKZF1):c.825G>A (p.Lys275=) GRCh37: Chr7:50459536 GRCh38: Chr7:50391838	IKZF1		Pancytopenia due to IKZF1 mutations, not provided	Conflicting interpretations of pathogenicity (Mar 8, 2022)	criteria provided, conflicting interpretations
Select item 22478220.	NM_006060.5(IKZF1):c.161-8388_589+2308del GRCh37: Chr7:50435843-50452713 GRCh38: Chr7:50368145-50385015	IKZF1		Pancytopenia due to IKZF1 mutations	Pathogenic (Aug 25, 2016)	no assertion criteria provided
Select item 22478121.	NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln) GRCh37: Chr7:50450367 GRCh38: Chr7:50382669	IKZF1	R184Q, R97Q	not provided	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 22478022.	NM_006060.6(IKZF1):c.500A>G (p.His167Arg) GRCh37: Chr7:50450316 GRCh38: Chr7:50382618	IKZF1	H167R, H80R	Inherited Immunodeficiency Diseases	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 22477923.	NM_006060.6(IKZF1):c.485G>A (p.Arg162Gln) GRCh37: Chr7:50450301 GRCh38: Chr7:50382603	IKZF1	R162Q, R75Q	Pancytopenia due to IKZF1 mutations	Pathogenic (Aug 25, 2016)	no assertion criteria provided
Select item 22477824.	NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu) GRCh37: Chr7:50450301 GRCh38: Chr7:50382603	IKZF1	R162L, R75L	not provided	Conflicting interpretations of pathogenicity (Feb 14, 2023)	criteria provided, conflicting interpretations
Select item 22477725.	NM_006060.6(IKZF1):c.629A>G (p.Tyr210Cys) GRCh37: Chr7:50455082 GRCh38: Chr7:50387384	IKZF1	Y210C, Y67C, Y123C	Pancytopenia due to IKZF1 mutations	Pathogenic (Aug 25, 2016)	no assertion criteria provided

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Items: 25