CCDC22[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1527951	NM_014008.5(CCDC22):c.2T>C (p.Met1Thr)	CCDC22 (M1T)	Single nucleotide variant (missense variant +1 more)	CCDC22-related disorder +1 more	GUncertain significance
Select item 218105	NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)	CCDC22 (T17A)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GPathogenic
Select item 3052729	NM_014008.5(CCDC22):c.51-9C>T	CCDC22	Single nucleotide variant (intron variant)	CCDC22-related disorder	GLikely benign
Select item 1336255	NM_014008.5(CCDC22):c.81C>T (p.Arg27=)	CCDC22	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 736156	NM_014008.5(CCDC22):c.93T>G (p.Thr31=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031225	NM_014008.5(CCDC22):c.110C>T (p.Ala37Val)	CCDC22 (A37V)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2660522	NM_014008.5(CCDC22):c.124C>T (p.Leu42=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2691593	NM_014008.5(CCDC22):c.127C>T (p.Arg43Cys)	CCDC22 (R43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1012870	NM_014008.5(CCDC22):c.134T>A (p.Ile45Asn)	CCDC22 (I45N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805884	NM_014008.5(CCDC22):c.142G>A (p.Ala48Thr)	CCDC22 (A48T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2250997	NM_014008.5(CCDC22):c.157C>T (p.Leu53Phe)	CCDC22 (L53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2441877	NM_014008.5(CCDC22):c.190C>G (p.Arg64Gly)	CCDC22 (R64G)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 638386	NM_014008.5(CCDC22):c.197G>A (p.Arg66His)	CCDC22 (R66H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 740849	NM_014008.5(CCDC22):c.240T>C (p.Tyr80=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 393115	NM_014008.5(CCDC22):c.242C>T (p.Pro81Leu)	CCDC22 (P81L)	Single nucleotide variant (missense variant)	CCDC22-related disorder +1 more	GUncertain significance
Select item 2671749	NM_014008.5(CCDC22):c.284C>T (p.Pro95Leu)	CCDC22 (P95L)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 419864	NM_014008.5(CCDC22):c.297C>G (p.Asp99Glu)	CCDC22 (D99E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805180	NM_014008.5(CCDC22):c.319C>T (p.Arg107Cys)	CCDC22 (R107C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2660523	NM_014008.5(CCDC22):c.320G>A (p.Arg107His)	CCDC22 (R107H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439789	NM_014008.5(CCDC22):c.382C>T (p.Arg128Trp)	CCDC22 (R128W)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 1032586	NM_014008.5(CCDC22):c.383G>A (p.Arg128Gln)	CCDC22 (R128Q)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
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 975509	NM_014008.5(CCDC22):c.403C>T (p.Arg135Trp)	CCDC22 (R135W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 426293	NM_014008.5(CCDC22):c.404G>A (p.Arg135Gln)	CCDC22 (R135Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 726041	NM_014008.5(CCDC22):c.420G>A (p.Leu140=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635124	NM_014008.5(CCDC22):c.421C>A (p.Pro141Thr)	CCDC22 (P141T)	Single nucleotide variant (missense variant)	CCDC22-related disorder	GUncertain significance
Select item 1342847	NM_014008.5(CCDC22):c.427G>A (p.Val143Ile)	CCDC22 (V143I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660524	NM_014008.5(CCDC22):c.473C>T (p.Ser158Leu)	CCDC22 (S158L)	Single nucleotide variant (missense 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 +2 more	GLikely benign
Select item 995994	NM_014008.5(CCDC22):c.514_515delinsAG (p.Pro172Arg)	CCDC22 (P172R)	Indel (missense variant)	Ritscher-Schinzel syndrome 2	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 2439795	NM_014008.5(CCDC22):c.542G>A (p.Arg181Gln)	CCDC22 (R181Q)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439788	NM_014008.5(CCDC22):c.552G>C (p.Gln184His)	CCDC22 (Q184H)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 1206362	NM_014008.5(CCDC22):c.553G>A (p.Ala185Thr)	CCDC22 (A185T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2439790	NM_014008.5(CCDC22):c.559C>T (p.Pro187Ser)	CCDC22 (P187S)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 733237	NM_014008.5(CCDC22):c.573A>C (p.Pro191=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1194570	NM_014008.5(CCDC22):c.586G>A (p.Val196Met)	CCDC22 (V196M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 451185	NM_014008.5(CCDC22):c.614C>T (p.Ser205Leu)	CCDC22 (S205L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547081	NM_014008.5(CCDC22):c.615G>A (p.Ser205=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699426	NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)	CCDC22 (E208K)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GConflicting classifications of pathogenicity
Select item 2375489	NM_014008.5(CCDC22):c.653C>T (p.Thr218Met)	CCDC22 (T218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3139054	NM_014008.5(CCDC22):c.720C>G (p.Asp240Glu)	CCDC22 (D240E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139055	NM_014008.5(CCDC22):c.724C>T (p.Arg242Trp)	CCDC22 (R242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769177	NM_014008.5(CCDC22):c.747A>G (p.Gln249=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1307272	NM_014008.5(CCDC22):c.757A>G (p.Thr253Ala)	CCDC22 (T253A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308471	NM_014008.5(CCDC22):c.761A>C (p.Glu254Ala)	CCDC22 (E254A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421773	NM_014008.5(CCDC22):c.770G>A (p.Arg257His)	CCDC22 (R257H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308033	NM_014008.5(CCDC22):c.797C>A (p.Pro266His)	CCDC22 (P266H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025938	NM_014008.5(CCDC22):c.803A>G (p.Gln268Arg)	CCDC22 (Q268R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3139056	NM_014008.5(CCDC22):c.809G>A (p.Arg270Gln)	CCDC22 (R270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793559	NM_014008.5(CCDC22):c.828G>A (p.Leu276=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026962	NM_014008.5(CCDC22):c.873C>T (p.Ser291=)	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 specified +1 more	GConflicting classifications of pathogenicity
Select item 975508	NM_014008.5(CCDC22):c.909+8C>T	CCDC22	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2628331	NM_014008.5(CCDC22):c.909+122G>A	CCDC22	Single nucleotide variant (intron variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 389264	NM_014008.5(CCDC22):c.910-5C>T	CCDC22	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 3055673	NM_014008.5(CCDC22):c.956C>A (p.Ser319Tyr)	CCDC22 (S319Y)	Single nucleotide variant (missense variant)	CCDC22-related disorder	GUncertain significance
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 2207497	NM_014008.5(CCDC22):c.973G>T (p.Val325Phe)	CCDC22 (V325F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2236066	NM_014008.5(CCDC22):c.977C>T (p.Thr326Met)	CCDC22 (T326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439793	NM_014008.5(CCDC22):c.1000C>G (p.Leu334Val)	CCDC22 (L334V)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 3025455	NM_014008.5(CCDC22):c.1036C>G (p.Arg346Gly)	CCDC22 (R346G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 498815	NM_014008.5(CCDC22):c.1037G>A (p.Arg346His)	CCDC22 (R346H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1197210	NM_014008.5(CCDC22):c.1064T>C (p.Met355Thr)	CCDC22 (M355T)	Single nucleotide variant (missense 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 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 2217034	NM_014008.5(CCDC22):c.1108C>T (p.Arg370Trp)	CCDC22 (R370W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1176935	NM_014008.5(CCDC22):c.1113C>T (p.His371=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338674	NM_014008.5(CCDC22):c.1134G>C (p.Glu378Asp)	CCDC22 (E378D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2352498	NM_014008.5(CCDC22):c.1162C>T (p.Arg388Cys)	CCDC22 (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 434614	NM_014008.5(CCDC22):c.1164C>T (p.Arg388=)	CCDC22	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2660525	NM_014008.5(CCDC22):c.1167G>A (p.Ala389=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3139051	NM_014008.5(CCDC22):c.1171G>A (p.Glu391Lys)	CCDC22 (E391K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434615	NM_014008.5(CCDC22):c.1207C>T (p.Leu403=)	CCDC22	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1334483	NM_014008.5(CCDC22):c.1212+4G>T	CCDC22	Single nucleotide variant (intron variant)	CCDC22-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 95547	NM_014008.5(CCDC22):c.1213-9C>T	CCDC22	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2439787	NM_014008.5(CCDC22):c.1222G>A (p.Glu408Lys)	CCDC22 (E408K)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 633570	NM_014008.5(CCDC22):c.1229G>A (p.Ser410Asn)	CCDC22 (S410N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660526	NM_014008.5(CCDC22):c.1233C>T (p.Ala411=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1304641	NM_014008.5(CCDC22):c.1270C>T (p.His424Tyr)	CCDC22 (H424Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3037595	NM_014008.5(CCDC22):c.1287C>T (p.Leu429=)	CCDC22	Single nucleotide variant (synonymous variant)	CCDC22-related disorder	GLikely benign
Select item 95548	NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr)	CCDC22 (A430T)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2 +2 more	GBenign
Select item 1305185	NM_014008.5(CCDC22):c.1331T>C (p.Leu444Pro)	CCDC22 (L444P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2233514	NM_014008.5(CCDC22):c.1333G>C (p.Glu445Gln)	CCDC22 (E445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1032585	NM_014008.5(CCDC22):c.1343G>T (p.Arg448Leu)	CCDC22 (R448L)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance

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