ClinVar for Gene (Select 79714) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3139198	NM_001256964.2(CCDC51):c.874A>G (p.Arg292Gly)	CCDC51, LOC126806676 (R183G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139197	NM_001256964.2(CCDC51):c.869C>T (p.Pro290Leu)	CCDC51, LOC126806676 (P290L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139195	NM_001256964.2(CCDC51):c.65G>A (p.Arg22Gln)	CCDC51 (R22Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139194	NM_001256964.2(CCDC51):c.64C>T (p.Arg22Trp)	CCDC51 (R22W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3139193	NM_001256964.2(CCDC51):c.580C>T (p.Arg194Cys)	CCDC51, LOC126806676 (R194C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139192	NM_001256964.2(CCDC51):c.559C>T (p.Arg187Trp)	CCDC51, LOC126806676 (R187W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139191	NM_001256964.2(CCDC51):c.479A>G (p.Glu160Gly)	CCDC51, LOC126806676 (E51G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139190	NM_001256964.2(CCDC51):c.416G>A (p.Arg139His)	CCDC51 (R139H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139189	NM_001256964.2(CCDC51):c.406C>T (p.Arg136Cys)	CCDC51 (R136C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139188	NM_001256964.2(CCDC51):c.392A>G (p.Lys131Arg)	CCDC51 (K22R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139187	NM_001256964.2(CCDC51):c.340G>C (p.Gly114Arg)	CCDC51 (G114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139186	NM_001256964.2(CCDC51):c.334G>T (p.Ala112Ser)	CCDC51 (A3S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139185	NM_001256964.2(CCDC51):c.1007G>A (p.Gly336Glu)	CCDC51, LOC126806676 (G336E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685917	GRCh37/hg19 3p21.31(chr3:47720958-48490193)x3	ATRIP, CAMP +11 more	Copy number gain	not provided	GUncertain significance
Select item 2608811	NM_001256964.2(CCDC51):c.933G>T (p.Arg311Ser)	CCDC51, LOC126806676 (R311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570293	NM_001256964.2(CCDC51):c.88C>T (p.Leu30Phe)	CCDC51 (L30F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534823	NM_001256964.2(CCDC51):c.272G>A (p.Gly91Glu)	CCDC51 (G91E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525714	NM_001256964.2(CCDC51):c.142A>G (p.Arg48Gly)	CCDC51 (R48G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508531	NM_001256964.2(CCDC51):c.55G>A (p.Val19Ile)	CCDC51 (V19I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2474558	NM_015933.6(TMA7):c.128T>C (p.Leu43Pro)	CCDC51, TMA7 (L43P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473528	NM_001256964.2(CCDC51):c.176G>A (p.Arg59His)	CCDC51 (R59H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2396369	NM_001256964.2(CCDC51):c.769C>T (p.Arg257Cys)	CCDC51, LOC126806676 (R148C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393047	NM_001256964.2(CCDC51):c.895C>T (p.Leu299Phe)	CCDC51, LOC126806676 (L299F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327735	NM_001256964.2(CCDC51):c.662A>C (p.Tyr221Ser)	CCDC51, LOC126806676 (Y221S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297238	NM_015933.6(TMA7):c.14A>G (p.Glu5Gly)	CCDC51, TMA7 (E5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	ALS2CL, ARIH2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1291449	NC_000003.12:g.48446391G>C	ATRIP, CCDC51	Single nucleotide variant	not provided	GBenign
Select item 1261622	NC_000003.12:g.48446507=	ATRIP, CCDC51	Single nucleotide variant	not provided	GBenign
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 784002	NM_001256964.2(CCDC51):c.132C>T (p.Pro44=)	CCDC51	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 784001	NM_001256964.2(CCDC51):c.968A>G (p.Gln323Arg)	CCDC51, LOC126806676 (Q214R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711936	NM_001256964.2(CCDC51):c.493C>T (p.Arg165Cys)	CCDC51, LOC126806676 (R56C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 562767	GRCh37/hg19 3p21.31(chr3:48441331-48516124)x1	PLXNB1, TMA7 +4 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39