"Ambry Genetics"[submitter] AND "ELP5"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2519556	NM_203414.3(ELP5):c.-41C>T	ELP5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2210720	NM_203414.3(ELP5):c.-17C>T	ELP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2237957	NM_203414.3(ELP5):c.-11G>T	ELP5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2535849	NM_203414.3(ELP5):c.17T>C (p.Leu6Ser)	ELP5 (L6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301927	NM_203414.3(ELP5):c.43C>G (p.Arg15Gly)	ELP5 (R15G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208683	NM_203414.3(ELP5):c.97T>C (p.Ser33Pro)	ELP5, LOC130060119 (S33P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2624327	NM_203414.3(ELP5):c.130G>T (p.Gly44Cys)	ELP5 (G44C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604208	NM_203414.3(ELP5):c.157C>T (p.Arg53Cys)	ELP5 (R53C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470858	NM_203414.3(ELP5):c.187C>T (p.Arg63Trp)	ELP5 (R63W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219530	NM_203414.3(ELP5):c.250C>A (p.Pro84Thr)	ELP5 (P84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549745	NM_203414.3(ELP5):c.251C>T (p.Pro84Leu)	ELP5 (P84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275252	NM_203414.3(ELP5):c.253G>A (p.Gly85Arg)	ELP5 (G85R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088525	NM_203414.3(ELP5):c.260C>T (p.Pro87Leu)	ELP5 (P87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088526	NM_203414.3(ELP5):c.263T>G (p.Leu88Arg)	ELP5 (L88R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271252	NM_203414.3(ELP5):c.292A>G (p.Thr98Ala)	ELP5 (T98A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088527	NM_203414.3(ELP5):c.346C>T (p.Arg116Cys)	ELP5 (R116C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211309	NM_203414.3(ELP5):c.397G>A (p.Asp133Asn)	ELP5 (D133N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088528	NM_203414.3(ELP5):c.512A>G (p.Glu171Gly)	ELP5 (E171G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394244	NM_203414.3(ELP5):c.572G>A (p.Arg191Gln)	ELP5 (R191Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605671	NM_203414.3(ELP5):c.577C>T (p.Arg193Cys)	ELP5 (R193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266965	NM_203414.3(ELP5):c.605C>T (p.Ser202Phe)	ELP5 (S202F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208920	NM_203414.3(ELP5):c.643C>G (p.Pro215Ala)	ELP5 (P215A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275251	NM_203414.3(ELP5):c.805C>T (p.Arg269Trp)	ELP5 (R269W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514229	NM_203414.3(ELP5):c.806G>A (p.Arg269Gln)	ELP5 (R269Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474906	NM_203414.3(ELP5):c.809C>T (p.Pro270Leu)	ELP5 (P270L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275253	NM_203414.3(ELP5):c.811A>G (p.Arg271Gly)	ELP5 (R271G)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2593807	NM_203414.3(ELP5):c.830G>C (p.Ser277Thr)	ELP5 (S277T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2495934	NM_203414.3(ELP5):c.883G>C (p.Asp295His)	ELP5 (D295H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 28