Related gene-specific medical variations for Gene (Select 10084) - ClinVar - NCBI

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

Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2911231	NM_001032382.2(PQBP1):c.53A>G (p.Lys18Arg)	LOC130068256, PQBP1 (K18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818427	NM_001032382.2(PQBP1):c.59T>A (p.Leu20Gln)	LOC130068256, PQBP1 (L20Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663443	NM_001032382.2(PQBP1):c.62A>T (p.Glu21Val)	LOC130068256, PQBP1 (E21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435234	NM_001032382.2(PQBP1):c.431G>A (p.Arg144His)	PQBP1 (R136H +1 more)	Single nucleotide variant (missense variant +1 more)	Renpenning syndrome	GUncertain significance
Select item 2200905	NM_001032382.2(PQBP1):c.60G>C (p.Leu20=)	LOC130068256, PQBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2026133	NM_001032382.2(PQBP1):c.24G>T (p.Gln8His)	LOC130068256, PQBP1 (Q8H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1967510	NM_001032382.2(PQBP1):c.67+15A>T	LOC130068256, PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314819	NM_001032382.2(PQBP1):c.28C>T (p.Arg10Cys)	LOC130068256, PQBP1 (R10C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313256	NM_001032382.2(PQBP1):c.29G>T (p.Arg10Leu)	LOC130068256, PQBP1 (R10L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236832	NM_001032382.2(PQBP1):c.-19+15G>A	LOC130068255, PQBP1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1203191	NM_001032382.2(PQBP1):c.-150A>G	PQBP1, TIMM17B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1085202	NM_001032382.2(PQBP1):c.27C>A (p.Thr9=)	LOC130068256, PQBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030959	NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser)	LOC130068256, PQBP1 (L11S)	Single nucleotide variant (missense variant)	Renpenning syndrome	GLikely pathogenic
Select item 931434	NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter)	PQBP1 (S208* +4 more)	Single nucleotide variant (nonsense)	Renpenning syndrome	GLikely pathogenic
Select item 677296	NM_001032382.2(PQBP1):c.-19+125G>T	LOC130068255, PQBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 637970	NM_001032382.2(PQBP1):c.722AGC[1] (p.Gln242del)	PQBP1 (Q142del +4 more)	Microsatellite (inframe_deletion)	Microcephaly	GLikely pathogenic
Select item 368452	NM_001032382.2(PQBP1):c.-18-69C>T	LOC130068256, PQBP1	Single nucleotide variant (intron variant +1 more)	Renpenning syndrome	GBenign
Select item 368451	NM_001032382.2(PQBP1):c.-18-196A>G	LOC130068255, PQBP1	Single nucleotide variant (5 prime UTR variant +1 more)	Renpenning syndrome	GUncertain significance