"Ambry Genetics"[submitter] AND "IBA57"[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2402894	NM_001010867.4(IBA57):c.7A>G (p.Thr3Ala)	IBA57 (T3A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 651713	NM_001010867.4(IBA57):c.11C>T (p.Ala4Val)	IBA57 (A4V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1507732	NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln)	IBA57 (R8Q)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 3107845	NM_001010867.4(IBA57):c.61T>A (p.Trp21Arg)	IBA57 (W21R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1946523	NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly)	IBA57 (R28G)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 1512645	NM_001010867.4(IBA57):c.89G>A (p.Arg30His)	IBA57 (R30H)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 3107842	NM_001010867.4(IBA57):c.100A>C (p.Ser34Arg)	IBA57 (S34R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603010	NM_001010867.4(IBA57):c.104C>A (p.Ser35Tyr)	IBA57 (S35Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432684	NM_001010867.4(IBA57):c.104C>T (p.Ser35Phe)	IBA57 (S35F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3107843	NM_001010867.4(IBA57):c.109A>C (p.Ser37Arg)	IBA57 (S37R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318661	NM_001010867.4(IBA57):c.109A>G (p.Ser37Gly)	IBA57 (S37G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107844	NM_001010867.4(IBA57):c.145G>C (p.Ala49Pro)	IBA57 (A49P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2075438	NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr)	IBA57 (S82T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 74 +2 more	GUncertain significance
Select item 2508616	NM_001010867.4(IBA57):c.246T>A (p.Ser82Arg)	IBA57 (S82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2050028	NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del)	IBA57	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 639514	NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg)	IBA57 (G87R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1034361	NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu)	IBA57 (P89L)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 1409036	NM_001010867.4(IBA57):c.316del (p.Thr106fs)	IBA57 (T106fs)	Deletion (frameshift variant)	IBA57-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 2374227	NM_001010867.4(IBA57):c.323A>G (p.Tyr108Cys)	IBA57 (Y108C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595645	NM_001010867.4(IBA57):c.421G>A (p.Ala141Thr)	IBA57 (A141T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595646	NM_001010867.4(IBA57):c.422C>G (p.Ala141Gly)	IBA57 (A141G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525209	NM_001010867.4(IBA57):c.422C>T (p.Ala141Val)	IBA57 (A141V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1804483	NM_001010867.4(IBA57):c.506C>T (p.Ala169Val)	IBA57 (A169V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 2229895	NM_001010867.4(IBA57):c.511G>C (p.Gly171Arg)	IBA57 (G171R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2218017	NM_001010867.4(IBA57):c.550A>G (p.Ile184Val)	IBA57 (I184V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1037759	NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr)	IBA57 (A192T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GUncertain significance
Select item 2329411	NM_001010867.4(IBA57):c.584G>C (p.Gly195Ala)	IBA57 (G2A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521722	NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp)	IBA57 (R197W +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 559322	NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile)	IBA57 (T200I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2211934	NM_001010867.4(IBA57):c.682G>A (p.Val228Ile)	IBA57 (V35I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1381465	NM_001010867.4(IBA57):c.682G>C (p.Val228Leu)	IBA57 (V228L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 521723	NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala)	IBA57 (P236A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1005540	NM_001010867.4(IBA57):c.748A>G (p.Met250Val)	IBA57 (M250V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2328777	NM_001010867.4(IBA57):c.763T>C (p.Phe255Leu)	IBA57 (F62L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107846	NM_001010867.4(IBA57):c.815T>C (p.Met272Thr)	IBA57 (M79T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1034363	NM_001010867.4(IBA57):c.827G>A (p.Arg276His)	IBA57 (R83H +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +2 more	GUncertain significance
Select item 2050674	NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe)	IBA57 (I327F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 572919	NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr)	IBA57 (A345T +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +3 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38