CCDC57[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	LOC126862671, LOC126862672 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	LOC130062002, LOC130062003 +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	B3GNTL1, CCDC57 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 60176	GRCh38/hg38 17q25.3(chr17:82078456-82568008)x3	CCDC57, CD7 +73 more	Copy number gain	See cases	GUncertain significance
Select item 2509220	NM_001394669.1(CCDC57):c.3045G>T (p.Gln1015His)	CCDC57 (Q523H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365105	NM_001394669.1(CCDC57):c.3014G>A (p.Arg1005Gln)	CCDC57 (R893Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320283	NM_001394669.1(CCDC57):c.2972A>C (p.Lys991Thr)	CCDC57 (K879T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286737	NM_001394669.1(CCDC57):c.2925C>A (p.Asp975Glu)	CCDC57 (D483E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539232	NM_001394669.1(CCDC57):c.2771C>G (p.Pro924Arg)	CCDC57 (P812R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274684	NM_001394669.1(CCDC57):c.2753C>G (p.Pro918Arg)	CCDC57 (P918R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2550000	NM_001394669.1(CCDC57):c.2666C>A (p.Ala889Asp)	CCDC57 (A397D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589429	NM_001394669.1(CCDC57):c.2101C>G (p.Gln701Glu)	CCDC57 (Q209E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365910	NM_001394669.1(CCDC57):c.2089C>G (p.Arg697Gly)	CCDC57 (R205G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412307	NM_001394669.1(CCDC57):c.2068G>A (p.Ala690Thr)	CCDC57 (A198T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2379940	NM_001394669.1(CCDC57):c.2041G>A (p.Val681Met)	CCDC57 (V681M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245779	NM_001394669.1(CCDC57):c.1937G>A (p.Gly646Glu)	CCDC57 (G646E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593979	NM_001394669.1(CCDC57):c.1909G>A (p.Gly637Arg)	CCDC57 (G145R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332210	NM_001394669.1(CCDC57):c.1839T>A (p.His613Gln)	CCDC57 (H121Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648487	NM_001394669.1(CCDC57):c.1751C>G (p.Ala584Gly)	CCDC57 (A584G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2496216	NM_001394669.1(CCDC57):c.1574G>A (p.Arg525Gln)	CCDC57 (R33Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2409535	NM_001394669.1(CCDC57):c.1462G>A (p.Val488Met)	CCDC57 (V488M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2489783	NM_001394669.1(CCDC57):c.1406C>T (p.Ala469Val)	CCDC57 (A469V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406328	NM_001394669.1(CCDC57):c.1265A>T (p.Asp422Val)	CCDC57 (D422V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372085	NM_001394669.1(CCDC57):c.1262G>A (p.Arg421His)	CCDC57 (R421H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267140	NM_001394669.1(CCDC57):c.1254C>A (p.Ser418Arg)	CCDC57 (S418R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326397	NM_001394669.1(CCDC57):c.1058G>A (p.Arg353His)	CCDC57 (R353H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611928	NM_001394669.1(CCDC57):c.1045A>G (p.Ile349Val)	CCDC57 (I349V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648488	NM_001394669.1(CCDC57):c.993C>G (p.Leu331=)	CCDC57	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2607212	NM_001394669.1(CCDC57):c.985G>T (p.Ala329Ser)	CCDC57 (A329S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303394	NM_001394669.1(CCDC57):c.927G>C (p.Gln309His)	CCDC57 (Q309H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303392	NM_001394669.1(CCDC57):c.926A>T (p.Gln309Leu)	CCDC57 (Q309L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648489	NM_001394669.1(CCDC57):c.903G>A (p.Ala301=)	CCDC57	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2258063	NM_001394669.1(CCDC57):c.886G>A (p.Asp296Asn)	CCDC57 (D296N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346893	NM_001394669.1(CCDC57):c.775C>T (p.Arg259Trp)	CCDC57 (R259W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589964	NM_001394669.1(CCDC57):c.769C>T (p.Arg257Cys)	CCDC57 (R257C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2324695	NM_001394669.1(CCDC57):c.739G>A (p.Gly247Arg)	CCDC57 (G247R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618196	NM_001394669.1(CCDC57):c.695A>G (p.Glu232Gly)	CCDC57 (E232G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489692	NM_001394669.1(CCDC57):c.665C>T (p.Ala222Val)	CCDC57 (A222V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353744	NM_001394669.1(CCDC57):c.607C>T (p.Arg203Trp)	CCDC57 (R203W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407700	NM_001394669.1(CCDC57):c.538T>C (p.Ser180Pro)	CCDC57 (S180P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382565	NM_001394669.1(CCDC57):c.437G>A (p.Arg146Gln)	CCDC57 (R146Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283990	NM_001394669.1(CCDC57):c.427G>A (p.Asp143Asn)	CCDC57 (D143N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407984	NM_001394669.1(CCDC57):c.280G>A (p.Glu94Lys)	CCDC57 (E94K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240143	NM_001394669.1(CCDC57):c.280G>C (p.Glu94Gln)	CCDC57 (E94Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364673	NM_001394669.1(CCDC57):c.265C>T (p.Arg89Trp)	CCDC57 (R89W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558942	NM_001394669.1(CCDC57):c.114C>G (p.Asp38Glu)	CCDC57 (D38E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457727	NM_001394669.1(CCDC57):c.83G>A (p.Arg28His)	CCDC57 (R28H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367880	NM_001394669.1(CCDC57):c.46C>T (p.Arg16Cys)	CCDC57 (R16C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258019	NM_001394669.1(CCDC57):c.13G>C (p.Gly5Arg)	CCDC57 (G5R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2445210	Single allele	TBCD, TEX19 +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	ENPP7, EVPL +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 73