CCDC38[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2558180	NM_182496.3(CCDC38):c.1646A>G (p.Asn549Ser)	CCDC38 (N549S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139132	NM_182496.3(CCDC38):c.1579T>C (p.Leu527=)	CCDC38	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2554634	NM_182496.3(CCDC38):c.1573A>G (p.Lys525Glu)	CCDC38 (K525E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271764	NM_182496.3(CCDC38):c.1558G>A (p.Val520Ile)	CCDC38 (V520I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139131	NM_182496.3(CCDC38):c.1477C>T (p.Arg493Trp)	CCDC38 (R493W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233906	NM_182496.3(CCDC38):c.1460T>A (p.Met487Lys)	CCDC38 (M487K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394410	NM_182496.3(CCDC38):c.1427T>C (p.Ile476Thr)	CCDC38 (I476T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139130	NM_182496.3(CCDC38):c.1394G>A (p.Arg465His)	CCDC38 (R465H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253079	NM_182496.3(CCDC38):c.1354G>A (p.Gly452Ser)	CCDC38 (G452S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2238746	NM_182496.3(CCDC38):c.1353C>A (p.Asp451Glu)	CCDC38 (D451E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335029	NM_182496.3(CCDC38):c.1253T>C (p.Phe418Ser)	CCDC38 (F418S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139129	NM_182496.3(CCDC38):c.1243C>A (p.Leu415Ile)	CCDC38 (L415I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139128	NM_182496.3(CCDC38):c.1241A>G (p.Lys414Arg)	CCDC38 (K414R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470766	NM_182496.3(CCDC38):c.1220C>T (p.Ala407Val)	CCDC38 (A407V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139127	NM_182496.3(CCDC38):c.1204G>A (p.Glu402Lys)	CCDC38 (E402K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364641	NM_182496.3(CCDC38):c.1180A>G (p.Met394Val)	CCDC38 (M394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344255	NM_182496.3(CCDC38):c.1163T>C (p.Leu388Pro)	CCDC38 (L388P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372119	NM_182496.3(CCDC38):c.1154T>C (p.Ile385Thr)	CCDC38 (I385T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532089	NM_182496.3(CCDC38):c.1152C>G (p.Asn384Lys)	CCDC38 (N384K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139125	NM_182496.3(CCDC38):c.1133A>G (p.Gln378Arg)	CCDC38 (Q378R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291749	NM_182496.3(CCDC38):c.985G>C (p.Asp329His)	CCDC38 (D329H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342319	NM_182496.3(CCDC38):c.982G>A (p.Val328Ile)	CCDC38 (V328I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275068	NM_182496.3(CCDC38):c.962T>C (p.Leu321Pro)	CCDC38 (L321P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222137	NM_182496.3(CCDC38):c.928G>A (p.Glu310Lys)	CCDC38 (E310K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595655	NM_182496.3(CCDC38):c.895C>A (p.Arg299Ser)	CCDC38 (R299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279590	NM_182496.3(CCDC38):c.833T>C (p.Val278Ala)	CCDC38 (V278A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514896	NM_182496.3(CCDC38):c.778T>C (p.Ser260Pro)	CCDC38 (S260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139139	NM_182496.3(CCDC38):c.523G>T (p.Ala175Ser)	CCDC38 (A175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406659	NM_182496.3(CCDC38):c.523G>A (p.Ala175Thr)	CCDC38 (A175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363854	NM_182496.3(CCDC38):c.485A>T (p.Glu162Val)	CCDC38 (E162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139138	NM_182496.3(CCDC38):c.451G>A (p.Glu151Lys)	CCDC38 (E151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398534	NM_182496.3(CCDC38):c.434G>A (p.Arg145Gln)	CCDC38 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139137	NM_182496.3(CCDC38):c.415G>T (p.Asp139Tyr)	CCDC38 (D139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620119	NM_182496.3(CCDC38):c.383C>T (p.Thr128Ile)	CCDC38 (T128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221897	NM_182496.3(CCDC38):c.371A>G (p.Tyr124Cys)	CCDC38 (Y124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139135	NM_182496.3(CCDC38):c.323C>G (p.Thr108Ser)	CCDC38 (T108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456360	NM_182496.3(CCDC38):c.310G>A (p.Asp104Asn)	CCDC38 (D104N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623020	NM_182496.3(CCDC38):c.284C>T (p.Pro95Leu)	CCDC38 (P95L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139134	NM_182496.3(CCDC38):c.280G>A (p.Ala94Thr)	CCDC38 (A94T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316345	NM_182496.3(CCDC38):c.226G>C (p.Ala76Pro)	CCDC38 (A76P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619523	NM_182496.3(CCDC38):c.212A>C (p.Tyr71Ser)	CCDC38 (Y71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382495	NM_182496.3(CCDC38):c.206A>G (p.His69Arg)	CCDC38 (H69R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139133	NM_182496.3(CCDC38):c.160A>G (p.Met54Val)	CCDC38 (M54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526850	NM_182496.3(CCDC38):c.146T>G (p.Phe49Cys)	CCDC38 (F49C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139126	NM_182496.3(CCDC38):c.113A>G (p.Glu38Gly)	CCDC38 (E38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255938	NM_182496.3(CCDC38):c.83T>A (p.Ile28Asn)	CCDC38 (I28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807664	GRCh37/hg19 12q23.1(chr12:96279628-96608563)x3	AMDHD1, CCDC38 +3 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 52