Related gene-specific medical variations for Gene (Select 23184) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294272	NM_015154.3(MESD):c.97G>A (p.Ala33Thr)	LOC121530597, MESD (A33T)	Single nucleotide variant (missense variant +1 more)	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 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 3125375	NM_015154.3(MESD):c.56T>G (p.Leu19Arg)	LOC121530597, MESD (L19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125374	NM_015154.3(MESD):c.55C>G (p.Leu19Val)	LOC121530597, MESD (L19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125367	NM_015154.3(MESD):c.169G>A (p.Asp57Asn)	LOC121530597, MESD (D57N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2955051	NM_015154.3(MESD):c.30C>T (p.Ala10=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902842	NM_015154.3(MESD):c.5C>T (p.Ala2Val)	LOC121530597, MESD (A2V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2890964	NM_015154.3(MESD):c.128A>G (p.Glu43Gly)	LOC121530597, MESD (E43G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2716051	NM_015154.3(MESD):c.204G>A (p.Glu68=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631909	NM_015154.3(MESD):c.57GCT[6] (p.Leu26_Pro27insLeu)	LOC121530597, MESD	Microsatellite (inframe_insertion +1 more)	MESD-related disorder +1 more	GUncertain significance
Select item 2460047	NM_015154.3(MESD):c.85C>T (p.Pro29Ser)	LOC121530597, MESD (P29S)	Single nucleotide variant (missense variant +1 more)	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 2194674	NM_015154.3(MESD):c.107G>C (p.Gly36Ala)	LOC121530597, MESD (G36A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190452	NM_015154.3(MESD):c.55_56delinsGG (p.Leu19Gly)	LOC121530597, MESD (L19G)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2185233	NM_015154.3(MESD):c.22C>T (p.Arg8Cys)	LOC121530597, MESD (R8C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2123924	NM_015154.3(MESD):c.80dup (p.Pro28fs)	LOC121530597, MESD (P28fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2102016	NM_015154.3(MESD):c.109T>A (p.Ser37Thr)	LOC121530597, MESD (S37T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088647	NM_015154.3(MESD):c.111G>T (p.Ser37=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2072452	NM_015154.3(MESD):c.213+5G>A	LOC121530597, MESD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2072010	NM_015154.3(MESD):c.57GCT[7] (p.Leu26_Pro27insLeuLeu)	LOC121530597, MESD	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2057624	NM_015154.3(MESD):c.44G>A (p.Cys15Tyr)	LOC121530597, MESD (C15Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047070	NM_015154.3(MESD):c.57GCT[3] (p.Leu25_Leu26del)	LOC121530597, MESD	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2038785	NM_015154.3(MESD):c.48C>G (p.Ala16=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1971226	NM_015154.3(MESD):c.99G>A (p.Ala33=)	LOC121530597, MESD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1682039	NM_015154.3(MESD):c.11C>T (p.Ser4Phe)	LOC121530597, MESD (S4F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1682038	NM_015154.3(MESD):c.213+20C>T	LOC121530597, MESD	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 804686	NM_001293298.2(CEMIP):c.4069AAG[3] (p.Lys1360del)	CEMIP, MESD (K1360del)	Microsatellite (inframe_deletion)	not provided	GBenign

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Links from Gene

Items: 34