ClinVar for MedGen (Select 347604) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064520	NM_007144.3(PCGF2):c.1026del (p.Pro342_Leu343insTer)	CISD3, PCGF2	Deletion (3 prime UTR variant +1 more)	Wolfram syndrome 2 +1 more	GUncertain significance
Select item 2573447	NC_000004.11:g.(103790345_103806372)_(103813965_?)del	CISD2, SLC9B1	Deletion	Wolfram syndrome 2	GPathogenic
Select item 1705457	NM_001008388.5(CISD2):c.3G>A (p.Met1Ile)	CISD2, LOC129992891 (M1I)	Single nucleotide variant (missense variant +1 more)	Wolfram syndrome 2	GUncertain significance
Select item 1513999	NM_001008388.5(CISD2):c.83C>T (p.Thr28Ile)	LOC129992892, CISD2 (T28I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1448359	NM_001008388.5(CISD2):c.239C>T (p.Pro80Leu)	CISD2, SLC9B1 (P80L)	Single nucleotide variant (missense variant +1 more)	Wolfram syndrome 2 +1 more	GUncertain significance
Select item 1349559	NM_001008388.5(CISD2):c.103+6C>A	CISD2, LOC129992892	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 749103	NM_001008388.5(CISD2):c.60G>C (p.Arg20=)	CISD2, LOC129992892	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 716908	NM_001008388.5(CISD2):c.104-9C>A	CISD2, SLC9B1	Single nucleotide variant (3 prime UTR variant +2 more)	Wolfram syndrome 2 +2 more	GBenign/Likely benign
Select item 638297	NM_001008388.5(CISD2):c.103+1G>A	CISD2, LOC129992892	Single nucleotide variant (splice donor variant)	Wolfram syndrome 2	GPathogenic
Select item 508006	NM_001008388.5(CISD2):c.319-20T>C	CISD2, SLC9B1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 156218	NM_001008388.4(CISD2):c.(104_304)-84_318+724del	CISD2, SLC9B1	Deletion	Wolfram syndrome 2	GPathogenic
Select item 136775	NM_001008388.5(CISD2):c.240G>A (p.Pro80=)	CISD2, SLC9B1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 892	NM_001008388.5(CISD2):c.109G>C (p.Glu37Gln)	CISD2, SLC9B1	Single nucleotide variant (3 prime UTR variant +2 more)	Wolfram syndrome 2	GPathogenic