"Ambry Genetics"[submitter] AND "LOC129997730"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1753322	NM_017802.4(DNAAF5):c.63G>C (p.Thr21=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3083364	NM_017802.4(DNAAF5):c.65C>T (p.Ala22Val)	DNAAF5, LOC129997730 +1 more (A22V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 566686	NM_017802.4(DNAAF5):c.67G>C (p.Glu23Gln)	LOC129997730, PRKAR1B +1 more (E23Q)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1367513	NM_017802.4(DNAAF5):c.69G>T (p.Glu23Asp)	DNAAF5, LOC129997730 +1 more (E23D)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 260938	NM_017802.4(DNAAF5):c.72G>A (p.Ala24=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 2563334	NM_017802.4(DNAAF5):c.133G>A (p.Gly45Ser)	DNAAF5, LOC129997730 +1 more (G45S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2141721	NM_017802.4(DNAAF5):c.141G>T (p.Arg47=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2563333	NM_017802.4(DNAAF5):c.142C>T (p.Arg48Cys)	DNAAF5, LOC129997730 +1 more (R48C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2625515	NM_017802.4(DNAAF5):c.147C>T (p.Ala49=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2335491	NM_017802.4(DNAAF5):c.160C>G (p.Arg54Gly)	DNAAF5, LOC129997730 +1 more (R54G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2340766	NM_017802.4(DNAAF5):c.172G>A (p.Glu58Lys)	DNAAF5, LOC129997730 +1 more (E58K)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1781110	NM_017802.4(DNAAF5):c.183C>G (p.Gly61=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1782486	NM_017802.4(DNAAF5):c.190G>T (p.Ala64Ser)	DNAAF5, LOC129997730 +1 more (A64S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1782482	NM_017802.4(DNAAF5):c.190G>A (p.Ala64Thr)	DNAAF5, LOC129997730 +1 more (A64T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083358	NM_017802.4(DNAAF5):c.191C>G (p.Ala64Gly)	DNAAF5, LOC129997730 +1 more (A64G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1786546	NM_017802.4(DNAAF5):c.213C>T (p.Gly71=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2314957	NM_017802.4(DNAAF5):c.214C>T (p.Pro72Ser)	DNAAF5, LOC129997730 +1 more (P72S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1787055	NM_017802.4(DNAAF5):c.216C>T (p.Pro72=)	DNAAF5, LOC129997730 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1787401	NM_017802.4(DNAAF5):c.218G>C (p.Trp73Ser)	PRKAR1B, DNAAF5 +1 more (W73S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 663116	NM_017802.4(DNAAF5):c.221C>A (p.Ala74Glu)	DNAAF5, LOC129997730 +1 more (A74E)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 3272532	NM_017802.4(DNAAF5):c.223C>T (p.Arg75Cys)	DNAAF5, LOC129997730 +1 more (R75C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2339240	NM_017802.4(DNAAF5):c.230T>C (p.Leu77Pro)	DNAAF5, LOC129997730 +1 more (L77P)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 701061	NM_017802.4(DNAAF5):c.231G>A (p.Leu77=)	PRKAR1B, DNAAF5 +1 more	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1791008	NM_017802.4(DNAAF5):c.241T>A (p.Leu81Met)	DNAAF5, LOC129997730 +1 more (L81M)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance

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Items: 24