"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226495	NM_017950.4(CCDC40):c.51G>A (p.Ser17=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 505068	NM_017950.4(CCDC40):c.83A>G (p.Glu28Gly)	CCDC40 (E28G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 226490	NM_017950.4(CCDC40):c.180G>A (p.Ala60=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 166807	NM_017950.4(CCDC40):c.207G>C (p.Val69=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 31069	NM_017950.4(CCDC40):c.248del (p.Ala83fs)	CCDC40 (A83fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 166808	NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)	CCDC40 (T112A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 228477	NM_017950.4(CCDC40):c.461G>A (p.Arg154Lys)	CCDC40 (R154K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 226494	NM_017950.4(CCDC40):c.504G>A (p.Pro168=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 162845	NM_017950.4(CCDC40):c.507G>A (p.Ser169=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 178707	NM_017950.4(CCDC40):c.676+13T>C	CCDC40	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 506252	NM_017950.4(CCDC40):c.677-8C>T	CCDC40	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 162846	NM_017950.4(CCDC40):c.677-4C>G	CCDC40	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 260979	NM_017950.4(CCDC40):c.850G>C (p.Asp284His)	CCDC40 (D284H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 178708	NM_017950.4(CCDC40):c.873C>T (p.Phe291=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 179591	NM_017950.4(CCDC40):c.940-7G>A	CCDC40	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 228326	NM_017950.4(CCDC40):c.940-2A>G	CCDC40	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 454874	NM_017950.4(CCDC40):c.1068G>A (p.Ser356=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 241230	NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)	CCDC40 (K375Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 226486	NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226487	NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys)	CCDC40 (E382K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 162847	NM_017950.4(CCDC40):c.1159+12C>T	CCDC40	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 402500	NM_017950.4(CCDC40):c.1317+42G>A	CCDC40	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 162848	NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)	CCDC40	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 226488	NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
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 227211	NM_017950.4(CCDC40):c.1467C>T (p.Ser489=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +2 more	GConflicting classifications of pathogenicity
Select item 504722	NM_017950.4(CCDC40):c.1480C>T (p.Arg494Cys)	CCDC40 (R494C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 178709	NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys)	CCDC40 (E511K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 215523	NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)	CCDC40 (T558R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 162849	NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)	CCDC40 (A630V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 162850	NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 178710	NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)	CCDC40 (L752P)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 162851	NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)	CCDC40 (V775M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226491	NM_017950.4(CCDC40):c.2604C>T (p.Phe868=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 241237	NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)	CCDC40	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 218550	NM_017950.4(CCDC40):c.2832+462_2832+463insCAC	CCDC40	Insertion (inframe_insertion +1 more)	Primary ciliary dyskinesia +2 more	GBenign
Select item 226492	NM_017950.4(CCDC40):c.2868G>A (p.Lys956=)	CCDC40	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 15 +3 more	GBenign
Select item 226493	NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu)	CCDC40 (R967L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 178711	NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +4 more	GBenign
Select item 162852	NM_017950.4(CCDC40):c.3210A>G (p.Thr1070=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II +4 more	GBenign
Select item 95880	NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)	CCDC40, GAA (V1114M)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +4 more	GBenign/Likely benign
Select item 178712	NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 162853	NM_017950.4(CCDC40):c.*15T>C	CCDC40, GAA	Single nucleotide variant (3 prime UTR variant)	Primary ciliary dyskinesia +4 more	GBenign
Select item 92484	NM_000152.5(GAA):c.324T>C (p.Cys108=)	GAA, CCDC40	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database

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Items: 44