ClinVar for Gene (Select 84692) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139205	NM_032600.3(CCDC54):c.973G>A (p.Val325Ile)	CCDC54 (V325I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139204	NM_032600.3(CCDC54):c.916A>T (p.Ile306Phe)	CCDC54 (I306F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139203	NM_032600.3(CCDC54):c.693C>G (p.Ser231Arg)	CCDC54 (S231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139201	NM_032600.3(CCDC54):c.395A>C (p.Asp132Ala)	CCDC54 (D132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139200	NM_032600.3(CCDC54):c.284A>G (p.Gln95Arg)	CCDC54 (Q95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685089	GRCh37/hg19 3q13.12-13.13(chr3:106530324-108811014)x1	BBX, CCDC54 +10 more	Copy number loss	not provided	GUncertain significance
Select item 2606132	NM_032600.3(CCDC54):c.950T>G (p.Phe317Cys)	CCDC54 (F317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601768	NM_032600.3(CCDC54):c.667C>T (p.Arg223Cys)	CCDC54 (R223C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2388329	NM_032600.3(CCDC54):c.536T>C (p.Leu179Pro)	CCDC54 (L179P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381559	NM_032600.3(CCDC54):c.508C>T (p.Leu170Phe)	CCDC54 (L170F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366321	NM_032600.3(CCDC54):c.358T>C (p.Cys120Arg)	CCDC54 (C120R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360418	NM_032600.3(CCDC54):c.703G>A (p.Ala235Thr)	CCDC54 (A235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343286	NM_032600.3(CCDC54):c.334A>C (p.Met112Leu)	CCDC54 (M112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309637	NM_032600.3(CCDC54):c.485G>T (p.Arg162Met)	CCDC54 (R162M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308479	NM_032600.3(CCDC54):c.25G>T (p.Val9Leu)	CCDC54 (V9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301964	NM_032600.3(CCDC54):c.946G>A (p.Gly316Ser)	CCDC54 (G316S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298701	NM_032600.3(CCDC54):c.758T>C (p.Phe253Ser)	CCDC54 (F253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294502	NM_032600.3(CCDC54):c.269T>G (p.Met90Arg)	CCDC54 (M90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284916	NM_032600.3(CCDC54):c.112C>T (p.Arg38Trp)	CCDC54 (R38W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281274	NM_032600.3(CCDC54):c.87A>C (p.Lys29Asn)	CCDC54 (K29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251344	NM_032600.3(CCDC54):c.58A>G (p.Asn20Asp)	CCDC54 (N20D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227256	NM_032600.3(CCDC54):c.413A>G (p.Lys138Arg)	CCDC54 (K138R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209854	NM_032600.3(CCDC54):c.238C>T (p.Leu80Phe)	CCDC54 (L80F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1340630	GRCh37/hg19 3q13.12(chr3:106835934-107175486)x3	CCDC54	Copy number gain	not provided	GUncertain significance
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 562799	GRCh37/hg19 3q13.12-13.13(chr3:106706719-109171489)x1	MORC1-AS1, DZIP3 +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 150361	GRCh38/hg38 3q13.11-13.13(chr3:106451492-109265496)x1	BBX, C3orf85 +61 more	Copy number loss	See cases	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +397 more	Copy number loss	See cases	GPathogenic
Select item 146039	GRCh38/hg38 3q13.12(chr3:107246719-107699807)x3	BBX, CCDC54 +13 more	Copy number gain	See cases	GUncertain significance
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC129937263, LOC129937264 +247 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	ALCAM, BBX +89 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 41