ClinVar for MedGen (Select 462796) - ClinVar

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Items: 28

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 8797591.	NM_003860.4(BANF1):c.-60C>T GRCh37: Chr11:65769998 GRCh38: Chr11:66002527	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 8797582.	NM_001143985.1(BANF1):c.-105G>A GRCh37: Chr11:65769896 GRCh38: Chr11:66002425	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8777963.	NM_003860.4(BANF1):c.*182T>C GRCh37: Chr11:65771425 GRCh38: Chr11:66003954	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8777954.	NM_003860.4(BANF1):c.*143T>A GRCh37: Chr11:65771386 GRCh38: Chr11:66003915	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8777945.	NM_003860.4(BANF1):c.*100C>T GRCh37: Chr11:65771343 GRCh38: Chr11:66003872	BANF1		Nestor-Guillermo progeria syndrome	Likely benign (Apr 28, 2017)	criteria provided, single submitter
Select item 7906446.	NM_003860.4(BANF1):c.204C>T (p.Gly68=) GRCh37: Chr11:65771177 GRCh38: Chr11:66003706	BANF1		not provided, Nestor-Guillermo progeria syndrome	Benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 3054127.	NM_003860.4(BANF1):c.*273C>G GRCh37: Chr11:65771516 GRCh38: Chr11:66004045	BANF1		Nestor-Guillermo progeria syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 3054118.	NM_003860.4(BANF1):c.*209T>G GRCh37: Chr11:65771452 GRCh38: Chr11:66003981	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3054109.	NM_003860.4(BANF1):c.*177G>A GRCh37: Chr11:65771420 GRCh38: Chr11:66003949	BANF1		Nestor-Guillermo progeria syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30540910.	NM_003860.4(BANF1):c.*128C>A GRCh37: Chr11:65771371 GRCh38: Chr11:66003900	BANF1		Nestor-Guillermo progeria syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30540811.	NM_003860.4(BANF1):c.*120T>A GRCh37: Chr11:65771363 GRCh38: Chr11:66003892	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30540712.	NM_003860.4(BANF1):c.*64T>A GRCh37: Chr11:65771307 GRCh38: Chr11:66003836	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30540613.	NM_003860.4(BANF1):c.9C>T (p.Thr3=) GRCh37: Chr11:65770730 GRCh38: Chr11:66003259	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30540514.	NM_003860.4(BANF1):c.-62A>G GRCh37: Chr11:65769996 GRCh38: Chr11:66002525	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30540415.	NM_003860.4(BANF1):c.-70T>G GRCh37: Chr11:65769988 GRCh38: Chr11:66002517	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30540316.	NM_001143985.1(BANF1):c.-35A>T GRCh37: Chr11:65769966 GRCh38: Chr11:66002495	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30540217.	NM_001143985.1(BANF1):c.-86G>A GRCh37: Chr11:65769915 GRCh38: Chr11:66002444	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30540118.	NM_001143985.1(BANF1):c.-192G>C GRCh37: Chr11:65769809 GRCh38: Chr11:66002338	BANF1		Nestor-Guillermo progeria syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30540019.	NM_001143985.1(BANF1):c.-221T>G GRCh37: Chr11:65769780 GRCh38: Chr11:66002309	BANF1		Nestor-Guillermo progeria syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30539920.	NM_001143985.1(BANF1):c.-230C>T GRCh37: Chr11:65769771 GRCh38: Chr11:66002300	BANF1		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30539821.	NM_001143985.1(BANF1):c.-254G>T GRCh37: Chr11:65769747 GRCh38: Chr11:66002276	BANF1		Nestor-Guillermo progeria syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 30539722.	NM_001143985.1(BANF1):c.-297G>A GRCh37: Chr11:65769704 GRCh38: Chr11:66002233	BANF1		Nestor-Guillermo progeria syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30539623.	NM_001242481.2(EIF1AD):c.-329G>A GRCh37: Chr11:65769593 GRCh38: Chr11:66002122	BANF1, EIF1AD		Nestor-Guillermo progeria syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30539524.	NM_001242481.2(EIF1AD):c.-322_-321dup GRCh37: Chr11:65769584-65769585 GRCh38: Chr11:66002113-66002114	BANF1, EIF1AD		Nestor-Guillermo progeria syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 30539425.	NM_001242481.2(EIF1AD):c.-316C>T GRCh37: Chr11:65769580 GRCh38: Chr11:66002109	BANF1, EIF1AD		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30539326.	NM_001242481.2(EIF1AD):c.-308C>G GRCh37: Chr11:65769572 GRCh38: Chr11:66002101	BANF1, EIF1AD		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30539227.	NM_001242481.2(EIF1AD):c.-297T>C GRCh37: Chr11:65769561 GRCh38: Chr11:66002090	BANF1, EIF1AD		Nestor-Guillermo progeria syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 3039028.	NM_003860.4(BANF1):c.34G>A (p.Ala12Thr) GRCh37: Chr11:65770755 GRCh38: Chr11:66003284	BANF1	A12T	Nestor-Guillermo progeria syndrome	Pathogenic (May 13, 2011)	no assertion criteria provided

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Items: 28