26574[HGNC] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 57383	GRCh38/hg38 1p34.1(chr1:45440264-45869574)x3	AKR1A1, CCDC163 +34 more	Copy number gain	See cases	GUncertain significance
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 153233	GRCh38/hg38 1p34.1(chr1:45569797-46183208)x3	AKR1A1, CCDC17 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152663	GRCh38/hg38 1p34.1(chr1:45611232-45961272)x3	CCDC17, GPBP1L1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2618952	NM_001114938.3(CCDC17):c.1810G>C (p.Asp604His)	CCDC17 (D595H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250443	NM_001114938.3(CCDC17):c.1774C>T (p.Pro592Ser)	CCDC17 (P583S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398723	NM_001114938.3(CCDC17):c.1720A>T (p.Thr574Ser)	CCDC17 (T565S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264062	NM_001114938.3(CCDC17):c.1712T>C (p.Val571Ala)	CCDC17 (V571A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138800	NM_001114938.3(CCDC17):c.1711G>A (p.Val571Met)	CCDC17 (V571M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369865	NM_001114938.3(CCDC17):c.1624C>T (p.Arg542Trp)	CCDC17 (R533W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138799	NM_001114938.3(CCDC17):c.1570A>G (p.Ser524Gly)	CCDC17 (S515G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264059	NM_001114938.3(CCDC17):c.1532G>A (p.Arg511His)	CCDC17 (R502H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455576	NM_001114938.3(CCDC17):c.1531C>T (p.Arg511Cys)	CCDC17 (R511C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321995	NM_001114938.3(CCDC17):c.1525C>T (p.Arg509Cys)	CCDC17 (R500C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341242	NM_001114938.3(CCDC17):c.1520G>C (p.Ser507Thr)	CCDC17 (S498T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341157	NM_001114938.3(CCDC17):c.1511G>C (p.Arg504Pro)	CCDC17 (R495P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299080	NM_001114938.3(CCDC17):c.1511G>A (p.Arg504Gln)	CCDC17 (R495Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403880	NM_001114938.3(CCDC17):c.1510C>T (p.Arg504Trp)	CCDC17 (R504W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024773	NM_001114938.3(CCDC17):c.1408G>A (p.Val470Ile)	CCDC17 (V461I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2357628	NM_001114938.3(CCDC17):c.1354T>G (p.Cys452Gly)	CCDC17 (C443G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350025	NM_001114938.3(CCDC17):c.1319T>G (p.Leu440Arg)	CCDC17 (L440R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485650	NM_001114938.3(CCDC17):c.1302G>T (p.Leu434Phe)	CCDC17 (L425F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618537	NM_001114938.3(CCDC17):c.1298C>T (p.Ala433Val)	CCDC17 (A433V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618951	NM_001114938.3(CCDC17):c.1276C>T (p.Arg426Trp)	CCDC17 (R417W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324247	NM_001114938.3(CCDC17):c.1274G>A (p.Gly425Glu)	CCDC17 (G416E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264060	NM_001114938.3(CCDC17):c.1270G>A (p.Asp424Asn)	CCDC17 (D415N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620914	NM_001114938.3(CCDC17):c.1270G>T (p.Asp424Tyr)	CCDC17 (D415Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284692	NM_001114938.3(CCDC17):c.1268G>T (p.Arg423Leu)	CCDC17 (R414L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264064	NM_001114938.3(CCDC17):c.1229C>A (p.Ala410Asp)	CCDC17 (A401D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371726	NM_001114938.3(CCDC17):c.1181C>G (p.Pro394Arg)	CCDC17 (P385R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138797	NM_001114938.3(CCDC17):c.1163G>T (p.Gly388Val)	CCDC17 (G388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138796	NM_001114938.3(CCDC17):c.1157T>C (p.Met386Thr)	CCDC17 (M386T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533198	NM_001114938.3(CCDC17):c.1124T>C (p.Leu375Pro)	CCDC17 (L366P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138795	NM_001114938.3(CCDC17):c.1030C>T (p.Pro344Ser)	CCDC17 (P335S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283481	NM_001114938.3(CCDC17):c.1026T>A (p.Asp342Glu)	CCDC17 (D333E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264063	NM_001114938.3(CCDC17):c.1009C>A (p.Pro337Thr)	CCDC17 (P328T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360143	NM_001114938.3(CCDC17):c.996T>G (p.Asp332Glu)	CCDC17 (D323E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222115	NM_001114938.3(CCDC17):c.991G>A (p.Gly331Arg)	CCDC17 (G322R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138811	NM_001114938.3(CCDC17):c.983G>A (p.Arg328Gln)	CCDC17 (R328Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602726	NM_001114938.3(CCDC17):c.955C>T (p.Arg319Trp)	CCDC17 (R310W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352333	NM_001114938.3(CCDC17):c.944T>A (p.Met315Lys)	CCDC17 (M306K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491913	NM_001114938.3(CCDC17):c.911G>A (p.Arg304Gln)	CCDC17 (R295Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264058	NM_001114938.3(CCDC17):c.878C>T (p.Ser293Leu)	CCDC17 (S293L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590768	NM_001114938.3(CCDC17):c.866C>G (p.Ala289Gly)	CCDC17 (A280G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371607	NM_001114938.3(CCDC17):c.722C>T (p.Thr241Ile)	CCDC17 (T232I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558876	NM_001114938.3(CCDC17):c.716C>T (p.Pro239Leu)	CCDC17 (P230L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372084	NM_001114938.3(CCDC17):c.701T>A (p.Val234Glu)	CCDC17 (V225E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138809	NM_001114938.3(CCDC17):c.664C>A (p.Leu222Met)	CCDC17 (L213M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138808	NM_001114938.3(CCDC17):c.592G>A (p.Gly198Arg)	CCDC17 (G189R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485432	NM_001114938.3(CCDC17):c.590C>T (p.Ala197Val)	CCDC17 (A188V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271183	NM_001114938.3(CCDC17):c.527C>A (p.Thr176Lys)	CCDC17 (T167K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335103	NM_001114938.3(CCDC17):c.437C>T (p.Ala146Val)	CCDC17 (A137V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333798	NM_001114938.3(CCDC17):c.436G>A (p.Ala146Thr)	CCDC17 (A137T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138806	NM_001114938.3(CCDC17):c.371A>G (p.Gln124Arg)	CCDC17 (Q115R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398367	NM_001114938.3(CCDC17):c.356C>G (p.Ser119Cys)	CCDC17 (S110C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138805	NM_001114938.3(CCDC17):c.287T>C (p.Leu96Pro)	CCDC17 (L96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138804	NM_001114938.3(CCDC17):c.255G>C (p.Lys85Asn)	CCDC17 (K85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138803	NM_001114938.3(CCDC17):c.223C>G (p.Pro75Ala)	CCDC17 (P75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219514	NM_001114938.3(CCDC17):c.212C>A (p.Pro71His)	CCDC17 (P71H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264061	NM_001114938.3(CCDC17):c.190C>T (p.His64Tyr)	CCDC17 (H64Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138801	NM_001114938.3(CCDC17):c.178G>A (p.Val60Met)	CCDC17 (V60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615355	NM_001114938.3(CCDC17):c.151G>T (p.Ala51Ser)	CCDC17 (A51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483752	NM_001114938.3(CCDC17):c.62G>A (p.Arg21His)	CCDC17 (R21H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526960	GRCh37/hg19 1p34.1(chr1:46083531-46738006)	CCDC17, GPBP1L1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 980384	GRCh37/hg19 1p34.1(chr1:46044043-46096146)x1	NASP, CCDC17 +1 more	Copy number loss	not provided	GUncertain significance
Select item 689330	GRCh37/hg19 1p34.1(chr1:46057301-46552564)x3	CCDC17, GPBP1L1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441702	GRCh37/hg19 1p34.1(chr1:45715667-46501705)x3	AKR1A1, CCDC17 +11 more	Copy number gain	See cases	GUncertain significance
Select item 395081	GRCh37/hg19 1p34.1(chr1:46086758-46092965)x3	CCDC17	Copy number gain	See cases	GLikely benign
Select item 394255	GRCh37/hg19 1p34.1(chr1:46078097-46725770)x3	CCDC17, GPBP1L1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 253787	GRCh37/hg19 1p34.1(chr1:45953923-46126722)x3	AKR1A1, CCDC17 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 80