Related gene-specific medical variations for Gene (Select 57214) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265836	NM_001293298.2(CEMIP):c.2545A>G (p.Met849Val)	CEMIP, LOC126862194 (M849V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265826	NM_001293298.2(CEMIP):c.3893T>C (p.Val1298Ala)	CEMIP, MESD (V1298A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3265825	NM_001293298.2(CEMIP):c.2457T>C (p.Ser819=)	CEMIP, LOC126862194	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3142145	NM_001293298.2(CEMIP):c.3910A>C (p.Thr1304Pro)	CEMIP, MESD (T1304P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063349	GRCh37/hg19 15q25.1(chr15:81147557-81209329)x1	CEMIP	Copy number loss	not specified	GUncertain significance
Select item 2617541	NM_001293298.2(CEMIP):c.2533G>A (p.Val845Met)	CEMIP, LOC126862194 (V845M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610549	NM_001293298.2(CEMIP):c.2465C>T (p.Thr822Ile)	CEMIP, LOC126862194 (T822I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373636	NM_001293298.2(CEMIP):c.2590G>A (p.Gly864Arg)	CEMIP, LOC126862194 (G864R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335678	NM_001293298.2(CEMIP):c.3994C>T (p.Arg1332Trp)	CEMIP, MESD (R1332W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1807073	NM_001293298.2(CEMIP):c.617G>A (p.Arg206Gln)	CEMIP (R206Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283387	NM_001293298.2(CEMIP):c.3858-208T>C	CEMIP, MESD	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1268091	NM_001293298.2(CEMIP):c.3858-310C>T	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1262356	NM_001293298.2(CEMIP):c.3959-77T>C	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1248114	NM_001293298.2(CEMIP):c.3958+306A>G	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1243745	NM_001293298.2(CEMIP):c.3959-321A>G	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1232480	NM_001293298.2(CEMIP):c.2612+256T>C	CEMIP, LOC126862194	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225089	NM_001293298.2(CEMIP):c.3958+221C>T	CEMIP, MESD	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 994858	NM_001293298.2(CEMIP):c.645G>C (p.Glu215Asp)	CEMIP (E215D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 994857	NM_001293298.2(CEMIP):c.3311C>T (p.Thr1104Met)	CEMIP (T1104M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994856	NM_001293298.2(CEMIP):c.242-9C>T	CEMIP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 804686	NM_001293298.2(CEMIP):c.4069AAG[3] (p.Lys1360del)	CEMIP, MESD (K1360del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 804684	NM_001293298.2(CEMIP):c.2609G>A (p.Gly870Asp)	CEMIP, LOC126862194 (G870D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714557	NM_001293298.2(CEMIP):c.2520C>T (p.Gly840=)	LOC126862194, CEMIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 585661	NM_001293298.2(CEMIP):c.2589C>T (p.Ser863=)	LOC126862194, CEMIP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

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Links from Gene

Items: 24