"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CCDC22" - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 736156	NM_014008.5(CCDC22):c.93T>G (p.Thr31=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740849	NM_014008.5(CCDC22):c.240T>C (p.Tyr80=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713437	NM_014008.5(CCDC22):c.389T>C (p.Ile130Thr)	CCDC22 (I130T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726492	NM_014008.5(CCDC22):c.399A>G (p.Gln133=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726041	NM_014008.5(CCDC22):c.420G>A (p.Leu140=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730843	NM_014008.5(CCDC22):c.474G>A (p.Ser158=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1463874	NM_014008.5(CCDC22):c.488C>T (p.Pro163Leu)	CCDC22 (P163L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737202	NM_014008.5(CCDC22):c.511G>A (p.Val171Met)	CCDC22 (V171M)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 210617	NM_014008.5(CCDC22):c.536-7C>T	CCDC22	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 733237	NM_014008.5(CCDC22):c.573A>C (p.Pro191=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 547081	NM_014008.5(CCDC22):c.615G>A (p.Ser205=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 198556	NM_014008.5(CCDC22):c.715G>A (p.Glu239Lys)	CCDC22 (E239K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 769177	NM_014008.5(CCDC22):c.747A>G (p.Gln249=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 793559	NM_014008.5(CCDC22):c.828G>A (p.Leu276=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434617	NM_014008.5(CCDC22):c.901T>C (p.Phe301Leu)	CCDC22 (F301L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 735112	NM_014008.5(CCDC22):c.1038C>T (p.Arg346=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748671	NM_014008.5(CCDC22):c.1044T>C (p.Ile348=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 210614	NM_014008.5(CCDC22):c.1070C>G (p.Thr357Ser)	CCDC22 (T357S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 210615	NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)	CCDC22 (R384C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 193701	NM_014008.5(CCDC22):c.1163G>A (p.Arg388His)	CCDC22 (R388H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 95548	NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr)	CCDC22 (A430T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 710391	NM_014008.5(CCDC22):c.1350G>A (p.Leu450=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747951	NM_014008.5(CCDC22):c.1380C>T (p.Val460=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 128626	NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn)	CCDC22 (D546N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 714566	NM_014008.5(CCDC22):c.1651G>A (p.Asp551Asn)	CCDC22 (D551N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 739722	NM_014008.5(CCDC22):c.1738A>G (p.Ile580Val)	CCDC22 (I580V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 759155	NM_014008.5(CCDC22):c.1761C>T (p.Leu587=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 859614	NM_014009.4(FOXP3):c.*878A>G	CCDC22, FOXP3	Single nucleotide variant (3 prime UTR variant)	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 3244684	NC_000023.10:g.(?_46466387)_(51241672_?)dup	AKAP4, ARAF +91 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	AKAP4, ARAF +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	CCDC22, CCNB3 +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	AKAP4, BMP15 +60 more	Duplication	X-linked severe congenital neutropenia +4 more	GUncertain significance
Select item 1411770	NC_000023.10:g.(?_48932462)_(49840657_?)dup	GAGE12E, GAGE13 +31 more	Duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
Select item 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	CACNA1F, CCDC120 +52 more	Duplication	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance

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Items: 36