"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1299 - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 567179	NM_017802.4(DNAAF5):c.502C>G (p.Leu168Val)	DNAAF5, LOC129997731 +1 more (L168V)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2099042	NM_017802.4(DNAAF5):c.517_521dup (p.Leu175fs)	DNAAF5, LOC129997731 +1 more (L175fs)	Duplication (frameshift variant +3 more)	Primary ciliary dyskinesia	GPathogenic
Select item 653739	NM_017802.4(DNAAF5):c.515G>A (p.Arg172His)	DNAAF5, LOC129997731 +1 more (R172H)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 697207	NM_017802.4(DNAAF5):c.516C>G (p.Arg172=)	DNAAF5, LOC129997731 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1475639	NM_017802.4(DNAAF5):c.517T>C (p.Cys173Arg)	LOC129997731, PRKAR1B +1 more (C173R)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2705591	NM_017802.4(DNAAF5):c.522C>T (p.Ser174=)	LOC129997731, PRKAR1B +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2008045	NM_017802.4(DNAAF5):c.526C>T (p.Leu176Phe)	DNAAF5, LOC129997731 +1 more (L176F)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2141099	NM_017802.4(DNAAF5):c.528C>G (p.Leu176=)	DNAAF5, LOC129997731 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2078615	NM_017802.4(DNAAF5):c.528C>T (p.Leu176=)	DNAAF5, LOC129997731 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1746923	NM_017802.4(DNAAF5):c.533C>T (p.Pro178Leu)	DNAAF5, LOC129997731 +1 more (P178L)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1562906	NM_017802.4(DNAAF5):c.534C>G (p.Pro178=)	LOC129997731, PRKAR1B +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 698765	NM_017802.4(DNAAF5):c.534C>T (p.Pro178=)	DNAAF5, LOC129997731 +1 more	Single nucleotide variant (synonymous variant +3 more)	Primary ciliary dyskinesia	GLikely benign
Select item 569808	NM_017802.4(DNAAF5):c.538G>A (p.Ala180Thr)	DNAAF5, LOC129997731 +1 more (A180T)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 241208	NM_017802.4(DNAAF5):c.550C>A (p.Arg184Ser)	LOC129997731, PRKAR1B +1 more (R184S)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity