ClinVar for MedGen (Select 347604) - ClinVar - NCBI

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Items: 12

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25734471.	NC_000004.11:g.(103790345_103806372)_(103813965_?)del GRCh37: Chr4:103790345-103813965	CISD2, SLC9B1		Wolfram syndrome 2	Pathogenic (Jun 2, 2023)	criteria provided, single submitter
Select item 17054572.	NM_001008388.5(CISD2):c.3G>A (p.Met1Ile) GRCh37: Chr4:103790244 GRCh38: Chr4:102869087	CISD2, LOC129992891	M1I	Wolfram syndrome 2	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 15139993.	NM_001008388.5(CISD2):c.83C>T (p.Thr28Ile) GRCh37: Chr4:103790324 GRCh38: Chr4:102869167	CISD2, LOC129992892	T28I	Wolfram syndrome 2, not provided	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14483594.	NM_001008388.5(CISD2):c.239C>T (p.Pro80Leu) GRCh37: Chr4:103806508 GRCh38: Chr4:102885351	CISD2, SLC9B1	P80L	not provided, Wolfram syndrome 2	Uncertain significance (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13495595.	NM_001008388.5(CISD2):c.103+6C>A GRCh37: Chr4:103790350 GRCh38: Chr4:102869193	LOC129992892, CISD2		Wolfram syndrome 2, not provided	Uncertain significance (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7491036.	NM_001008388.5(CISD2):c.60G>C (p.Arg20=) GRCh37: Chr4:103790301 GRCh38: Chr4:102869144	CISD2, LOC129992892		not provided, Wolfram syndrome 2	Benign/Likely benign (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7169087.	NM_001008388.5(CISD2):c.104-9C>A GRCh37: Chr4:103806364 GRCh38: Chr4:102885207	CISD2, SLC9B1		not provided, Wolfram syndrome 2	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6382978.	NM_001008388.5(CISD2):c.103+1G>A GRCh37: Chr4:103790345 GRCh38: Chr4:102869188	CISD2, LOC129992892		Wolfram syndrome 2	Pathogenic (Jul 30, 2019)	no assertion criteria provided
Select item 5080069.	NM_001008388.5(CISD2):c.319-20T>C GRCh37: Chr4:103808478 GRCh38: Chr4:102887321	CISD2, SLC9B1		not specified, not provided, Wolfram syndrome 2	Likely benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15621810.	NM_001008388.4(CISD2):c.(104_304)-84_318+724del GRCh38: Chr4:102885132-102887186	CISD2, SLC9B1		Wolfram syndrome 2	Pathogenic (Jul 24, 2014)	no assertion criteria provided
Select item 13677511.	NM_001008388.5(CISD2):c.240G>A (p.Pro80=) GRCh37: Chr4:103806509 GRCh38: Chr4:102885352	CISD2, SLC9B1		Wolfram syndrome 2, not provided	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 89212.	NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln) GRCh37: Chr4:103806378 GRCh38: Chr4:102885221	CISD2, SLC9B1		Wolfram syndrome 2	Pathogenic (Oct 1, 2007)	no assertion criteria provided