29386[HGNC] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1809606	GRCh38/hg38 1p33-32.3(chr1:50441439-50959811)x2	AGBL4, AGBL4-AS1 +119 more	Copy number loss	Orofacial cleft 13	Gassociation
Select item 2617867	NM_001330585.2(CC2D1B):c.2455G>C (p.Gly819Arg)	CC2D1B (G825R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138154	NM_001330585.2(CC2D1B):c.2404G>A (p.Glu802Lys)	CC2D1B (E802K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138153	NM_001330585.2(CC2D1B):c.2398G>C (p.Glu800Gln)	CC2D1B (E806Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456720	NM_001330585.2(CC2D1B):c.2393G>A (p.Arg798Gln)	CC2D1B (R798Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780239	NM_001330585.2(CC2D1B):c.2370C>T (p.Gly790=)	CC2D1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3138151	NM_001330585.2(CC2D1B):c.2319G>T (p.Lys773Asn)	CC2D1B (K773N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219854	NM_001330585.2(CC2D1B):c.2284G>A (p.Gly762Ser)	CC2D1B (G768S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138150	NM_001330585.2(CC2D1B):c.2282G>A (p.Arg761Gln)	CC2D1B (R767Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612530	NM_001330585.2(CC2D1B):c.2270A>G (p.Asn757Ser)	CC2D1B (N757S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482446	NM_001330585.2(CC2D1B):c.2254T>G (p.Phe752Val)	CC2D1B (F758V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457040	NM_001330585.2(CC2D1B):c.2194G>C (p.Ala732Pro)	CC2D1B (A732P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607420	NM_001330585.2(CC2D1B):c.2161C>T (p.Arg721Trp)	CC2D1B (R721W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138149	NM_001330585.2(CC2D1B):c.2140G>A (p.Asp714Asn)	CC2D1B (D714N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138148	NM_001330585.2(CC2D1B):c.2085G>C (p.Met695Ile)	CC2D1B (M695I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138147	NM_001330585.2(CC2D1B):c.2084T>C (p.Met695Thr)	CC2D1B (M695T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749580	NM_001330585.2(CC2D1B):c.2076C>T (p.Ser692=)	CC2D1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717691	NM_001330585.2(CC2D1B):c.2020C>T (p.His674Tyr)	CC2D1B (H674Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2601417	NM_001330585.2(CC2D1B):c.1960C>A (p.Arg654Ser)	CC2D1B (R660S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138146	NM_001330585.2(CC2D1B):c.1912C>G (p.Gln638Glu)	CC2D1B (Q638E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265250	NM_001330585.2(CC2D1B):c.1876G>C (p.Glu626Gln)	CC2D1B (E626Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138145	NM_001330585.2(CC2D1B):c.1843G>A (p.Ala615Thr)	CC2D1B (A621T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211208	NM_001330585.2(CC2D1B):c.1835A>T (p.Glu612Val)	CC2D1B (E612V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465910	NM_001330585.2(CC2D1B):c.1832A>C (p.Glu611Ala)	CC2D1B (E611A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355731	NM_001330585.2(CC2D1B):c.1811T>A (p.Leu604Gln)	CC2D1B (L610Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138144	NM_001330585.2(CC2D1B):c.1766T>C (p.Leu589Ser)	CC2D1B (L589S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138143	NM_001330585.2(CC2D1B):c.1753G>A (p.Val585Met)	CC2D1B (V591M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233017	NM_001330585.2(CC2D1B):c.1744C>A (p.Leu582Met)	CC2D1B (L582M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138142	NM_001330585.2(CC2D1B):c.1727C>T (p.Ser576Phe)	CC2D1B (S576F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602875	NM_001330585.2(CC2D1B):c.1727C>G (p.Ser576Cys)	CC2D1B (S582C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622579	NM_001330585.2(CC2D1B):c.1724G>A (p.Arg575Gln)	CC2D1B (R575Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277190	NM_001330585.2(CC2D1B):c.1653C>G (p.Ser551Arg)	CC2D1B (S551R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138141	NM_001330585.2(CC2D1B):c.1649G>A (p.Arg550His)	CC2D1B (R550H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347607	NM_001330585.2(CC2D1B):c.1646A>T (p.Lys549Met)	CC2D1B (K555M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408255	NM_001330585.2(CC2D1B):c.1628G>A (p.Arg543Gln)	CC2D1B (R549Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528230	NM_001330585.2(CC2D1B):c.1547C>A (p.Ala516Asp)	CC2D1B (A522D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771309	NM_001330585.2(CC2D1B):c.1533G>T (p.Leu511=)	CC2D1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2519512	NM_001330585.2(CC2D1B):c.1529G>T (p.Arg510Leu)	CC2D1B (R510L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138140	NM_001330585.2(CC2D1B):c.1526A>G (p.Gln509Arg)	CC2D1B (Q509R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138139	NM_001330585.2(CC2D1B):c.1381G>A (p.Ala461Thr)	CC2D1B (A461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320158	NM_001330585.2(CC2D1B):c.1322T>C (p.Val441Ala)	CC2D1B (V441A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537133	NM_001330585.2(CC2D1B):c.1295G>A (p.Arg432Gln)	CC2D1B (R432Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332698	NM_001330585.2(CC2D1B):c.1294C>T (p.Arg432Trp)	CC2D1B (R432W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467967	NM_001330585.2(CC2D1B):c.1222G>A (p.Glu408Lys)	CC2D1B (E408K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138138	NM_001330585.2(CC2D1B):c.1124C>T (p.Pro375Leu)	CC2D1B (P375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253633	NM_001330585.2(CC2D1B):c.1111G>A (p.Val371Ile)	CC2D1B (V371I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330501	NM_001330585.2(CC2D1B):c.1073C>G (p.Pro358Arg)	CC2D1B (P358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404483	NM_001330585.2(CC2D1B):c.1036G>A (p.Ala346Thr)	CC2D1B (A346T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138164	NM_001330585.2(CC2D1B):c.988G>A (p.Asp330Asn)	CC2D1B (D330N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404830	NM_001330585.2(CC2D1B):c.920G>T (p.Arg307Leu)	CC2D1B (R307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308735	NM_001330585.2(CC2D1B):c.917C>T (p.Ala306Val)	CC2D1B (A306V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334084	NM_001330585.2(CC2D1B):c.914G>T (p.Arg305Leu)	CC2D1B (R305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386155	NM_001330585.2(CC2D1B):c.905A>G (p.Glu302Gly)	CC2D1B (E302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473754	NM_001330585.2(CC2D1B):c.890C>T (p.Ala297Val)	CC2D1B (A297V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489860	NM_001330585.2(CC2D1B):c.881C>T (p.Ala294Val)	CC2D1B (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524634	NM_001330585.2(CC2D1B):c.767A>G (p.Asn256Ser)	CC2D1B (N256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138162	NM_001330585.2(CC2D1B):c.737C>T (p.Pro246Leu)	CC2D1B (P246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294392	NM_001330585.2(CC2D1B):c.682G>C (p.Gly228Arg)	CC2D1B (G228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138161	NM_001330585.2(CC2D1B):c.614C>T (p.Ser205Leu)	CC2D1B (S205L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468647	NM_001330585.2(CC2D1B):c.533G>A (p.Arg178Gln)	CC2D1B (R178Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138160	NM_001330585.2(CC2D1B):c.511G>A (p.Glu171Lys)	CC2D1B (E171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554792	NM_001330585.2(CC2D1B):c.508C>G (p.Leu170Val)	CC2D1B (L170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294221	NM_001330585.2(CC2D1B):c.449T>A (p.Val150Asp)	CC2D1B (V150D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238927	NM_001330585.2(CC2D1B):c.433C>T (p.Pro145Ser)	CC2D1B (P145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138159	NM_001330585.2(CC2D1B):c.430C>T (p.Pro144Ser)	CC2D1B (P144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592252	NM_001330585.2(CC2D1B):c.427G>C (p.Glu143Gln)	CC2D1B (E143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138158	NM_001330585.2(CC2D1B):c.425C>T (p.Thr142Ile)	CC2D1B (T142I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404242	NM_001330585.2(CC2D1B):c.425C>G (p.Thr142Ser)	CC2D1B (T142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541967	NM_001330585.2(CC2D1B):c.412G>A (p.Gly138Ser)	CC2D1B (G138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290693	NM_001330585.2(CC2D1B):c.406G>A (p.Glu136Lys)	CC2D1B (E136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638814	NM_001330585.2(CC2D1B):c.399T>G (p.Ser133=)	CC2D1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2256221	NM_001330585.2(CC2D1B):c.362C>A (p.Pro121His)	CC2D1B (P121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138156	NM_001330585.2(CC2D1B):c.343G>A (p.Val115Met)	CC2D1B (V115M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138155	NM_001330585.2(CC2D1B):c.320C>T (p.Thr107Met)	CC2D1B (T107M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613397	NM_001330585.2(CC2D1B):c.256T>C (p.Cys86Arg)	CC2D1B (C86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377256	NM_001330585.2(CC2D1B):c.139G>C (p.Asp47His)	CC2D1B (D47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360417	NM_001330585.2(CC2D1B):c.52G>A (p.Val18Met)	CC2D1B (V18M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138152	NM_001330585.2(CC2D1B):c.23G>A (p.Arg8Gln)	CC2D1B (R8Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062755	GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3	ACOT11, AGBL4 +72 more	Copy number gain	not specified	GLikely pathogenic
Select item 1047872	GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)	CYB5RL, EPS15 +49 more	Copy number loss	Abnormality of the kidney +1 more	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394094	GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1	LRP8, LRRC42 +42 more	Copy number loss	See cases	GPathogenic

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Items: 85