p.Glu85Asp[varname] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2205119	NM_001330311.2(DVL1):c.255G>C (p.Glu85Asp)	DVL1 (E85D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1793094	NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)	ABCG8 (E85D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1463284	NM_020458.4(TTC7A):c.1317G>C (p.Glu439Asp)	TTC7A (E405D +2 more)	Single nucleotide variant (missense variant)	Multiple gastrointestinal atresias	GUncertain significance
Select item 1793058	NM_002354.3(EPCAM):c.255A>T (p.Glu85Asp)	EPCAM (E85D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3113302	NM_013434.5(KCNIP3):c.333A>C (p.Glu111Asp)	KCNIP3 (E85D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1709941	NM_006005.3(WFS1):c.255A>T (p.Glu85Asp)	WFS1 (E85D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 6	GUncertain significance
Select item 2604983	NM_018317.4(TBC1D19):c.255A>C (p.Glu85Asp)	TBC1D19 (E85D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 287565	NM_021072.4(HCN1):c.255G>T (p.Glu85Asp)	HCN1 (E85D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1469869	NM_005654.6(NR2F1):c.255G>C (p.Glu85Asp)	NR2F1, NR2F1-AS1 (E85D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249786	NM_020444.5(KIAA1191):c.498G>C (p.Glu166Asp)	KIAA1191 (E147D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245069	NM_020771.4(HACE1):c.357A>C (p.Glu119Asp)	HACE1 (E119D +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2281067	NM_207416.3(SPATA31D3):c.255A>C (p.Glu85Asp)	LOC105376105, SPATA31D3 (E85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157702	NM_001174156.2(SAMD8):c.255G>T (p.Glu85Asp)	SAMD8 (E85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1955735	NM_022772.4(EPS8L2):c.255G>T (p.Glu85Asp)	EPS8L2 (E85D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720823	NM_031418.4(ANO3):c.255G>T (p.Glu85Asp)	ANO3 (E85D +1 more)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2164339	NM_004551.3(NDUFS3):c.255G>C (p.Glu85Asp)	NDUFS3 (E85D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2387398	NM_032358.4(CCDC77):c.255A>C (p.Glu85Asp)	CCDC77 (E53D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 566105	NM_001065.4(TNFRSF1A):c.255G>C (p.Glu85Asp)	TNFRSF1A (E85D)	Single nucleotide variant (missense variant +2 more)	TNF receptor-associated periodic fever syndrome (TRAPS)	GLikely benign
Select item 3087838	NM_001008394.3(EID3):c.255A>T (p.Glu85Asp)	EID3, TXNRD1 (E85D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1443795	NM_006531.5(IFT88):c.888G>C (p.Glu296Asp)	IFT88 (E296D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2241965	NM_001078645.3(CDC16):c.255G>T (p.Glu85Asp)	CDC16 (E84D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268814	NM_018145.3(RMDN3):c.255A>T (p.Glu85Asp)	RMDN3 (E85D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2769494	NM_033028.5(BBS4):c.255A>C (p.Glu85Asp)	BBS4 (E85D)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 856611	NM_003978.5(PSTPIP1):c.255G>C (p.Glu85Asp)	PSTPIP1 (E150D +2 more)	Single nucleotide variant (missense variant +1 more)	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more	GUncertain significance
Select item 1356681	NM_001379286.1(ZNF423):c.255G>T (p.Glu85Asp)	ZNF423 (E17D +2 more)	Single nucleotide variant (missense variant)	Nephronophthisis 14	GUncertain significance
Select item 2568732	NM_015670.6(SENP3):c.255G>C (p.Glu85Asp)	SENP3, SENP3-EIF4A1 (E85D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 569377	NM_007294.4(BRCA1):c.333A>C (p.Glu111Asp)	BRCA1 (E111D +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 868809	NM_007294.4(BRCA1):c.255G>C (p.Glu85Asp)	BRCA1 (E85D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 230500	NM_007294.4(BRCA1):c.255G>T (p.Glu85Asp)	BRCA1 (E85D +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2255495	NM_173628.4(DNAH17):c.255G>C (p.Glu85Asp)	DNAH17 (E85D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2365402	NM_001166387.4(MAGEA12):c.255G>T (p.Glu85Asp)	MAGEA12 (E85D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31