CCDC69[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 2655944	NM_015621.3(CCDC69):c.882C>T (p.Leu294=)	CCDC69	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2487863	NM_015621.3(CCDC69):c.806T>C (p.Leu269Ser)	CCDC69 (L269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139313	NM_015621.3(CCDC69):c.796G>A (p.Glu266Lys)	CCDC69 (E266K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264270	NM_015621.3(CCDC69):c.772C>T (p.Arg258Trp)	CCDC69 (R258W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341514	NM_015621.3(CCDC69):c.758A>G (p.Lys253Arg)	CCDC69 (K253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212436	NM_015621.3(CCDC69):c.755A>C (p.Glu252Ala)	CCDC69 (E252A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356130	NM_015621.3(CCDC69):c.736C>G (p.Leu246Val)	CCDC69 (L246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366464	NM_015621.3(CCDC69):c.715C>A (p.Gln239Lys)	CCDC69 (Q239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264269	NM_015621.3(CCDC69):c.692G>A (p.Arg231His)	CCDC69 (R231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139312	NM_015621.3(CCDC69):c.653C>A (p.Thr218Asn)	CCDC69 (T218N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353077	NM_015621.3(CCDC69):c.571C>T (p.Arg191Cys)	CCDC69 (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236700	NM_015621.3(CCDC69):c.516G>C (p.Gln172His)	CCDC69 (Q172H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139309	NM_015621.3(CCDC69):c.478T>G (p.Tyr160Asp)	CCDC69 (Y160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329620	NM_015621.3(CCDC69):c.471C>A (p.Ser157Arg)	CCDC69 (S157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310957	NM_015621.3(CCDC69):c.385A>G (p.Thr129Ala)	CCDC69 (T129A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3139308	NM_015621.3(CCDC69):c.352G>A (p.Ala118Thr)	CCDC69 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139307	NM_015621.3(CCDC69):c.326G>A (p.Arg109Gln)	CCDC69 (R109Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406571	NM_015621.3(CCDC69):c.301A>T (p.Asn101Tyr)	CCDC69 (N101Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139306	NM_015621.3(CCDC69):c.296G>A (p.Gly99Glu)	CCDC69 (G99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350379	NM_015621.3(CCDC69):c.227A>G (p.Gln76Arg)	CCDC69 (Q76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206087	NM_015621.3(CCDC69):c.224C>T (p.Ala75Val)	CCDC69 (A75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139305	NM_015621.3(CCDC69):c.194A>G (p.Gln65Arg)	CCDC69 (Q65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591990	NM_015621.3(CCDC69):c.163C>T (p.Arg55Trp)	CCDC69 (R55W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139311	NM_015621.3(CCDC69):c.53G>A (p.Arg18His)	CCDC69 (R18H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264268	NM_015621.3(CCDC69):c.37C>A (p.Pro13Thr)	CCDC69, LOC105378230 (P13T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2267427	NM_015621.3(CCDC69):c.36A>C (p.Lys12Asn)	CCDC69, LOC105378230 (K12N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 38