Related gene-specific medical variations for Gene (Select 55036) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064777	NM_017950.4(CCDC40):c.1096C>G (p.Leu366Val)	CCDC40 (L366V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 3064675	NM_017950.4(CCDC40):c.2832+461_2832+462insCCA	CCDC40	Insertion (inframe_insertion +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 2505170	NM_017950.4(CCDC40):c.2236-213_2832+2269del	CCDC40	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 15	GPathogenic
Select item 2439800	NM_017950.4(CCDC40):c.3103G>A (p.Glu1035Lys)	CCDC40 (E1035K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 2439799	NM_017950.4(CCDC40):c.466G>A (p.Val156Ile)	CCDC40 (V156I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 2439797	NM_017950.4(CCDC40):c.595G>C (p.Gly199Arg)	CCDC40 (G199R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 2438898	NM_017950.4(CCDC40):c.833dup (p.Val279fs)	CCDC40 (V279fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 1344606	NM_017950.4(CCDC40):c.93+2T>C	CCDC40	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1344604	NM_017950.4(CCDC40):c.1093G>T (p.Glu365Ter)	CCDC40 (E365*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 978003	NM_017950.4(CCDC40):c.1945T>C (p.Phe649Leu)	CCDC40 (F649L)	Single nucleotide variant (missense variant)	Male infertility	GUncertain significance
Select item 931828	NM_017950.4(CCDC40):c.2832+395dup	CCDC40 (Q992fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 931708	NM_017950.4(CCDC40):c.2832+297G>T	CCDC40 (E959*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 15	GLikely pathogenic
Select item 931392	NM_017950.4(CCDC40):c.298del (p.Thr100fs)	CCDC40 (T100fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 15	GLikely pathogenic
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 931141	NM_017950.4(CCDC40):c.2832+306G>T	CCDC40 (G962W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 15	GUncertain significance
Select item 686764	GRCh37/hg19 17q25.3(chr17:78058431-78074446)x1	CCDC40	Copy number loss	not provided	GPathogenic
Select item 636363	NM_017950.4(CCDC40):c.2832+297G>A	CCDC40 (E959K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 260961	NM_017950.4(CCDC40):c.2619+25G>A	CCDC40	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 260956	NM_017950.4(CCDC40):c.2163C>A (p.Ile721=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 260947	NM_017950.4(CCDC40):c.1038G>A (p.Glu346=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 65930	NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp)	CCDC40	Insertion (inframe_indel)	Primary ciliary dyskinesia 15	GPathogenic

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Links from Gene

Items: 21