ClinVar for Gene (Select 26112) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3264269	NM_015621.3(CCDC69):c.692G>A (p.Arg231His)	CCDC69 (R231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3139313	NM_015621.3(CCDC69):c.796G>A (p.Glu266Lys)	CCDC69 (E266K)	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 3139311	NM_015621.3(CCDC69):c.53G>A (p.Arg18His)	CCDC69 (R18H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 3139306	NM_015621.3(CCDC69):c.296G>A (p.Gly99Glu)	CCDC69 (G99E)	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 2655944	NM_015621.3(CCDC69):c.882C>T (p.Leu294=)	CCDC69	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2487863	NM_015621.3(CCDC69):c.806T>C (p.Leu269Ser)	CCDC69 (L269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2366464	NM_015621.3(CCDC69):c.715C>A (p.Gln239Lys)	CCDC69 (Q239K)	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 2353077	NM_015621.3(CCDC69):c.571C>T (p.Arg191Cys)	CCDC69 (R191C)	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 2341514	NM_015621.3(CCDC69):c.758A>G (p.Lys253Arg)	CCDC69 (K253R)	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 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 2236700	NM_015621.3(CCDC69):c.516G>C (p.Gln172His)	CCDC69 (Q172H)	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 2206087	NM_015621.3(CCDC69):c.224C>T (p.Ala75Val)	CCDC69 (A75V)	Single nucleotide variant (missense variant)	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
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 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	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 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 38