ClinVar for Gene (Select 117125600) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287091	NM_182575.3(IZUMO1):c.919G>T (p.Gly307Cys)	IZUMO1, LOC117125600 (G307C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287090	NM_182575.3(IZUMO1):c.917C>G (p.Thr306Ser)	IZUMO1, LOC117125600 (T132S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287089	NM_182575.3(IZUMO1):c.790C>T (p.Pro264Ser)	IZUMO1, LOC117125600 (P151S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483772	NM_182575.3(IZUMO1):c.919G>A (p.Gly307Ser)	IZUMO1, LOC117125600 (G194S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465207	NM_182575.3(IZUMO1):c.755T>C (p.Val252Ala)	IZUMO1, LOC117125600 (V252A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378858	NM_182575.3(IZUMO1):c.830C>T (p.Ser277Phe)	IZUMO1, LOC117125600 (S277F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347738	NM_182575.3(IZUMO1):c.694C>T (p.Arg232Cys)	IZUMO1, LOC117125600 (R232C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210832	NM_182575.3(IZUMO1):c.854C>T (p.Pro285Leu)	IZUMO1, LOC117125600 (P111L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic