ClinVar for Gene (Select 284359) - ClinVar

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Links from Gene

Items: 30

	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 3112058	NM_182575.3(IZUMO1):c.613A>T (p.Asn205Tyr)	IZUMO1 (N31Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112057	NM_182575.3(IZUMO1):c.469C>T (p.His157Tyr)	IZUMO1 (H157Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3112056	NM_182575.3(IZUMO1):c.214G>A (p.Asp72Asn)	IZUMO1 (D72N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3112055	NM_182575.3(IZUMO1):c.10C>T (p.His4Tyr)	IZUMO1 (H4Y)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2594405	NM_182575.3(IZUMO1):c.145C>T (p.His49Tyr)	IZUMO1 (H49Y)	Single nucleotide variant (5 prime UTR variant +3 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 2476830	NM_182575.3(IZUMO1):c.647C>T (p.Ala216Val)	IZUMO1 (A103V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467778	NM_182575.3(IZUMO1):c.322G>A (p.Val108Met)	IZUMO1 (V108M)	Single nucleotide variant (5 prime UTR variant +2 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 2465200	NM_182575.3(IZUMO1):c.625T>G (p.Leu209Val)	IZUMO1 (L209V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457111	NM_182575.3(IZUMO1):c.230T>C (p.Val77Ala)	IZUMO1 (V77A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
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 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 564585	GRCh37/hg19 19q13.33(chr19:49169554-49388064)x3	IZUMO1, FUT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
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

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Links from Gene

Items: 30