"Genetic Services Laboratory, University of Chicago"[submitter] AND "C - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1336255	NM_014008.5(CCDC22):c.81C>T (p.Arg27=)	CCDC22	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 128625	NM_014008.5(CCDC22):c.161G>C (p.Ser54Thr)	CCDC22 (S54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 210617	NM_014008.5(CCDC22):c.536-7C>T	CCDC22	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome 2 +2 more	GBenign/Likely benign
Select item 128627	NM_014008.5(CCDC22):c.659G>A (p.Arg220Gln)	CCDC22 (R220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337168	NM_014008.5(CCDC22):c.681C>G (p.Asp227Glu)	CCDC22 (D227E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 95550	NM_014008.5(CCDC22):c.747= (p.Gln249=)	CCDC22	Single nucleotide variant (no sequence alteration)	Ritscher-Schinzel syndrome 2 +1 more	GBenign
Select item 434617	NM_014008.5(CCDC22):c.901T>C (p.Phe301Leu)	CCDC22 (F301L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 434613	NM_014008.5(CCDC22):c.926C>A (p.Ala309Asp)	CCDC22 (A309D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 198853	NM_014008.5(CCDC22):c.962G>A (p.Arg321Gln)	CCDC22 (R321Q)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 128628	NM_014008.5(CCDC22):c.972G>C (p.Gln324His)	CCDC22 (Q324H)	Single nucleotide variant (missense variant)	not specified	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 434618	NM_014008.5(CCDC22):c.1078G>A (p.Val360Ile)	CCDC22 (V360I)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 434619	NM_014008.5(CCDC22):c.1135C>T (p.Arg379Cys)	CCDC22 (R379C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 210615	NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)	CCDC22 (R384C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 434614	NM_014008.5(CCDC22):c.1164C>T (p.Arg388=)	CCDC22	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 434615	NM_014008.5(CCDC22):c.1207C>T (p.Leu403=)	CCDC22	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 210616	NM_014008.5(CCDC22):c.1590G>A (p.Gly530=)	CCDC22	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 434616	NM_014008.5(CCDC22):c.1600C>T (p.Arg534Trp)	CCDC22 (R534W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1337683	NM_014009.4(FOXP3):c.*867G>C	CCDC22, FOXP3	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance

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Items: 21