ClinVar for Gene (Select 55917) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078865	NM_018704.3(CTTNBP2NL):c.818T>C (p.Ile273Thr)	CTTNBP2NL (I273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078864	NM_018704.3(CTTNBP2NL):c.687G>T (p.Leu229Phe)	CTTNBP2NL (L229F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078863	NM_018704.3(CTTNBP2NL):c.583G>A (p.Glu195Lys)	CTTNBP2NL (E195K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078862	NM_018704.3(CTTNBP2NL):c.1610C>T (p.Ala537Val)	CTTNBP2NL (A537V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078861	NM_018704.3(CTTNBP2NL):c.1445C>G (p.Pro482Arg)	CTTNBP2NL (P482R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078860	NM_018704.3(CTTNBP2NL):c.1180G>T (p.Val394Leu)	CTTNBP2NL (V394L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078859	NM_018704.3(CTTNBP2NL):c.1144G>T (p.Ala382Ser)	CTTNBP2NL (A382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078858	NM_018704.3(CTTNBP2NL):c.1126G>A (p.Glu376Lys)	CTTNBP2NL (E376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078857	NM_018704.3(CTTNBP2NL):c.1058A>G (p.Asp353Gly)	CTTNBP2NL (D353G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2613592	NM_018704.3(CTTNBP2NL):c.1829C>T (p.Thr610Ile)	CTTNBP2NL (T610I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611414	NM_018704.3(CTTNBP2NL):c.1037C>G (p.Ala346Gly)	CTTNBP2NL (A346G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569231	NM_018704.3(CTTNBP2NL):c.1447C>T (p.Pro483Ser)	CTTNBP2NL (P483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554827	NM_018704.3(CTTNBP2NL):c.1477G>C (p.Asp493His)	CTTNBP2NL (D493H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554663	NM_018704.3(CTTNBP2NL):c.965C>T (p.Thr322Ile)	CTTNBP2NL (T322I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521803	NM_018704.3(CTTNBP2NL):c.1489G>A (p.Ala497Thr)	CTTNBP2NL (A497T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510508	NM_018704.3(CTTNBP2NL):c.655G>A (p.Glu219Lys)	CTTNBP2NL (E219K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491275	NM_018704.3(CTTNBP2NL):c.1865A>G (p.Asn622Ser)	CTTNBP2NL (N622S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2488663	NM_018704.3(CTTNBP2NL):c.244A>G (p.Ile82Val)	CTTNBP2NL (I82V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	DDX20, LRIF1 +34 more	Deletion	not provided	GPathogenic
Select item 2390434	NM_018704.3(CTTNBP2NL):c.1102G>T (p.Val368Leu)	CTTNBP2NL (V368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383640	NM_018704.3(CTTNBP2NL):c.1127A>G (p.Glu376Gly)	CTTNBP2NL (E376G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376062	NM_018704.3(CTTNBP2NL):c.832G>A (p.Glu278Lys)	CTTNBP2NL (E278K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371403	NM_018704.3(CTTNBP2NL):c.1079G>C (p.Arg360Thr)	CTTNBP2NL (R360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367180	NM_018704.3(CTTNBP2NL):c.1798A>T (p.Thr600Ser)	CTTNBP2NL (T600S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360048	NM_018704.3(CTTNBP2NL):c.497G>A (p.Ser166Asn)	CTTNBP2NL (S166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311968	NM_018704.3(CTTNBP2NL):c.641T>C (p.Val214Ala)	CTTNBP2NL (V214A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303485	NM_018704.3(CTTNBP2NL):c.1367A>G (p.Asn456Ser)	CTTNBP2NL (N456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297736	NM_018704.3(CTTNBP2NL):c.1351T>A (p.Tyr451Asn)	CTTNBP2NL (Y451N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292822	NM_018704.3(CTTNBP2NL):c.848A>G (p.His283Arg)	CTTNBP2NL (H283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285383	NM_018704.3(CTTNBP2NL):c.403A>G (p.Met135Val)	CTTNBP2NL (M135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281824	NM_018704.3(CTTNBP2NL):c.1912A>G (p.Ser638Gly)	CTTNBP2NL (S638G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267379	NM_018704.3(CTTNBP2NL):c.276C>A (p.Asn92Lys)	CTTNBP2NL (N92K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266605	NM_018704.3(CTTNBP2NL):c.947G>A (p.Ser316Asn)	CTTNBP2NL (S316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217975	NM_018704.3(CTTNBP2NL):c.455C>T (p.Ser152Phe)	CTTNBP2NL (S152F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214477	NM_018704.3(CTTNBP2NL):c.1123C>T (p.Arg375Trp)	CTTNBP2NL (R375W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809133	GRCh37/hg19 1p13.2(chr1:112680493-113047932)x1	CTTNBP2NL, WNT2B	Copy number loss	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 782383	NM_018704.3(CTTNBP2NL):c.916A>G (p.Met306Val)	CTTNBP2NL (M306V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 716275	NM_018704.3(CTTNBP2NL):c.211G>A (p.Glu71Lys)	CTTNBP2NL (E71K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 57493	GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3	CAPZA1, CTTNBP2NL +61 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 49