ClinVar for Gene (Select 28952) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3139055	NM_014008.5(CCDC22):c.724C>T (p.Arg242Trp)	CCDC22 (R242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3139053	NM_014008.5(CCDC22):c.1810G>A (p.Glu604Lys)	CCDC22 (E604K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139052	NM_014008.5(CCDC22):c.1726G>A (p.Asp576Asn)	CCDC22 (D576N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3055673	NM_014008.5(CCDC22):c.956C>A (p.Ser319Tyr)	CCDC22 (S319Y)	Single nucleotide variant (missense variant)	CCDC22-related condition	GUncertain significance
Select item 3052729	NM_014008.5(CCDC22):c.51-9C>T	CCDC22	Single nucleotide variant (intron variant)	CCDC22-related condition	GLikely benign
Select item 3046839	NM_014008.5(CCDC22):c.1819C>T (p.Arg607Trp)	CCDC22 (R607W)	Single nucleotide variant (missense variant)	CCDC22-related condition	GLikely benign
Select item 3037595	NM_014008.5(CCDC22):c.1287C>T (p.Leu429=)	CCDC22	Single nucleotide variant (synonymous variant)	CCDC22-related condition	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 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 3025455	NM_014008.5(CCDC22):c.1036C>G (p.Arg346Gly)	CCDC22 (R346G)	Single nucleotide variant (missense 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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
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 2660528	NM_014008.5(CCDC22):c.1874G>A (p.Arg625Gln)	CCDC22 (R625Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660527	NM_014008.5(CCDC22):c.1635+3G>A	CCDC22	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660526	NM_014008.5(CCDC22):c.1233C>T (p.Ala411=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	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 2660524	NM_014008.5(CCDC22):c.473C>T (p.Ser158Leu)	CCDC22 (S158L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2660522	NM_014008.5(CCDC22):c.124C>T (p.Leu42=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636134	NM_014008.5(CCDC22):c.1705C>G (p.Gln569Glu)	CCDC22 (Q569E)	Single nucleotide variant (missense variant)	CCDC22-related condition	GUncertain significance
Select item 2635124	NM_014008.5(CCDC22):c.421C>A (p.Pro141Thr)	CCDC22 (P141T)	Single nucleotide variant (missense variant)	CCDC22-related condition	GUncertain significance
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 2602980	NM_014008.5(CCDC22):c.1586C>A (p.Ser529Tyr)	CCDC22 (S529Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602979	NM_014008.5(CCDC22):c.1585T>C (p.Ser529Pro)	CCDC22 (S529P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558652	NM_014008.5(CCDC22):c.1486C>T (p.Arg496Cys)	CCDC22 (R496C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529123	NM_014008.5(CCDC22):c.1693G>A (p.Glu565Lys)	CCDC22 (E565K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2503294	NM_014008.5(CCDC22):c.1822G>A (p.Glu608Lys)	CCDC22 (E608K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
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 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 2439794	NM_014008.5(CCDC22):c.1862T>G (p.Leu621Arg)	CCDC22 (L621R)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	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 2439792	NM_014008.5(CCDC22):c.1501G>A (p.Val501Met)	CCDC22 (V501M)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2439791	NM_014008.5(CCDC22):c.1610C>G (p.Ala537Gly)	CCDC22 (A537G)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
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 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 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 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 2431770	NM_014008.5(CCDC22):c.1852G>C (p.Ala618Pro)	CCDC22 (A618P)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +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	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCNB3, AKAP4 +60 more	Duplication	Thrombocytopenia 1 +2 more	GUncertain significance
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 2352498	NM_014008.5(CCDC22):c.1162C>T (p.Arg388Cys)	CCDC22 (R388C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2250997	NM_014008.5(CCDC22):c.157C>T (p.Leu53Phe)	CCDC22 (L53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238839	NM_014008.5(CCDC22):c.1385C>T (p.Ala462Val)	CCDC22 (A462V)	Single nucleotide variant (missense variant)	not specified	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 2233514	NM_014008.5(CCDC22):c.1333G>C (p.Glu445Gln)	CCDC22 (E445Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1805884	NM_014008.5(CCDC22):c.142G>A (p.Ala48Thr)	CCDC22 (A48T)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 1805180	NM_014008.5(CCDC22):c.319C>T (p.Arg107Cys)	CCDC22 (R107C)	Single nucleotide variant (missense variant)	Ritscher-Schinzel syndrome 2 +1 more	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1703416	NM_014008.5(CCDC22):c.1852G>A (p.Ala618Thr)	CCDC22 (A618T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1698311	NM_014008.5(CCDC22):c.1513C>G (p.Arg505Gly)	CCDC22 (R505G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1686543	NM_014008.5(CCDC22):c.1490T>G (p.Ile497Ser)	CCDC22 (I497S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1679235	NM_014008.5(CCDC22):c.1882T>C (p.Ter628Arg)	CCDC22	Single nucleotide variant (stop lost)	Ritscher-Schinzel syndrome 2	GUncertain significance
Select item 1527951	NM_014008.5(CCDC22):c.2T>C (p.Met1Thr)	CCDC22 (M1T)	Single nucleotide variant (missense variant +1 more)	CCDC22-related condition +1 more	GUncertain significance
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 1411770	NC_000023.10:g.(?_48932462)_(49840657_?)dup	PPP1R3F, PRICKLE3 +31 more	Duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	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 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1337683	NM_014009.4(FOXP3):c.*867G>C	CCDC22, FOXP3	Single nucleotide variant (3 prime UTR 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 1336255	NM_014008.5(CCDC22):c.81C>T (p.Arg27=)	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)	Ritscher-Schinzel syndrome 2 +1 more	GConflicting classifications of pathogenicity
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 1308033	NM_014008.5(CCDC22):c.797C>A (p.Pro266His)	CCDC22 (P266H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1306352	NM_014008.5(CCDC22):c.1873C>T (p.Arg625Trp)	CCDC22 (R625W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1304641	NM_014008.5(CCDC22):c.1270C>T (p.His424Tyr)	CCDC22 (H424Y)	Single nucleotide variant (missense variant)	not provided	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 1197210	NM_014008.5(CCDC22):c.1064T>C (p.Met355Thr)	CCDC22 (M355T)	Single nucleotide variant (missense 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 specified +1 more	GConflicting classifications of pathogenicity
Select item 1193798	NM_014008.5(CCDC22):c.1730C>T (p.Thr577Ile)	CCDC22 (T577I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 1176935	NM_014008.5(CCDC22):c.1113C>T (p.His371=)	CCDC22	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

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