"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CCDC40"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31069	NM_017950.4(CCDC40):c.248del (p.Ala83fs)	CCDC40 (A83fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 572208	NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)	CCDC40 (Q142*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1417234	NM_017950.4(CCDC40):c.552G>A (p.Leu184=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 325726	NM_017950.4(CCDC40):c.598G>A (p.Val200Ile)	CCDC40 (V200I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 216700	NM_017950.4(CCDC40):c.662T>C (p.Val221Ala)	CCDC40 (V221A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 658381	NM_017950.4(CCDC40):c.676+2_676+3dup	CCDC40	Duplication (splice donor variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 216118	NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)	CCDC40 (R321*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1487085	NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln)	CCDC40 (R321Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1061235	NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn)	CCDC40 (D410N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 31072	NM_017950.4(CCDC40):c.1345C>T (p.Arg449Ter)	CCDC40 (R449*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 15 +1 more	GPathogenic
Select item 659522	NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp)	CCDC40 (R472W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 226489	NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)	CCDC40 (S489I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 655647	NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu)	CCDC40 (D510E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1049537	NM_017950.4(CCDC40):c.1562+2018C>T	CCDC40 (A561V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 656923	NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn)	CCDC40 (T574N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 931391	NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys)	CCDC40 (E603K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 649795	NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp)	CCDC40 (R862W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 407769	NM_017950.4(CCDC40):c.2712-1G>T	CCDC40	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 15 +2 more	GPathogenic/Likely pathogenic
Select item 194774	NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)	CCDC40 (R942fs)	Insertion (frameshift variant)	not provided +2 more	GPathogenic
Select item 454887	NM_017950.4(CCDC40):c.2996G>A (p.Arg999His)	CCDC40 (R999H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 651981	NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln)	CCDC40 (R1000Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GUncertain significance
Select item 325747	NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile)	CCDC40 (V1005I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15 +1 more	GConflicting classifications of pathogenicity
Select item 696386	NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1371496	NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter)	CCDC40 (R1059*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 525411	NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln)	CCDC40 (R1059Q)	Single nucleotide variant (missense variant)	CCDC40-related disorder +2 more	GUncertain significance
Select item 890469	NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His)	CCDC40 (R1088H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 697248	NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +1 more	GLikely benign

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Items: 27