"Ambry Genetics"[submitter] AND "EEF1E1-BLOC1S5"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3134142	NM_201280.3(BLOC1S5):c.545C>T (p.Ala182Val)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (A118V +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2276341	NM_201280.3(BLOC1S5):c.503A>G (p.Glu168Gly)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (E104G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2355796	NM_201280.3(BLOC1S5):c.373G>C (p.Glu125Gln)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R81S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264659	NM_201280.3(BLOC1S5):c.295C>T (p.Arg99Trp)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R35W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476653	NM_201280.3(BLOC1S5):c.283A>G (p.Arg95Gly)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R95G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3134139	NM_201280.3(BLOC1S5):c.251A>G (p.His84Arg)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (H84R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2403529	NM_201280.3(BLOC1S5):c.229G>A (p.Glu77Lys)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (E13K +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3134138	NM_201280.3(BLOC1S5):c.202C>T (p.Arg68Cys)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R68C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2245541	NM_201280.3(BLOC1S5):c.201A>T (p.Lys67Asn)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (K3N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296686	NM_201280.3(BLOC1S5):c.173G>A (p.Arg58His)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (R58H)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2508671	NM_201280.3(BLOC1S5):c.170C>T (p.Thr57Ile)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (T57I)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2470238	NM_201280.3(BLOC1S5):c.108C>G (p.Ile36Met)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (I36M)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2468204	NM_201280.3(BLOC1S5):c.58A>G (p.Ser20Gly)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (S20G)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3134141	NM_201280.3(BLOC1S5):c.50G>A (p.Gly17Asp)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (G17D)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3134140	NM_201280.3(BLOC1S5):c.25C>T (p.Pro9Ser)	BLOC1S5, BLOC1S5-TXNDC5 +1 more (P9S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2332182	NM_004280.5(EEF1E1):c.449A>T (p.Gln150Leu)	EEF1E1, EEF1E1-BLOC1S5 (Q150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293153	NM_004280.5(EEF1E1):c.391C>G (p.Leu131Val)	EEF1E1, EEF1E1-BLOC1S5 (L131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance