ClinVar for Gene (Select 23271) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263065	NM_203459.4(CAMSAP2):c.479G>T (p.Cys160Phe)	CAMSAP2 (C160F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263064	NM_203459.4(CAMSAP2):c.1894T>G (p.Tyr632Asp)	CAMSAP2 (Y616D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263063	NM_203459.4(CAMSAP2):c.3186C>G (p.Ile1062Met)	CAMSAP2 (I1062M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263062	NM_203459.4(CAMSAP2):c.2675A>G (p.His892Arg)	CAMSAP2 (H903R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263061	NM_203459.4(CAMSAP2):c.1040T>A (p.Met347Lys)	CAMSAP2 (M347K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263060	NM_203459.4(CAMSAP2):c.3074A>C (p.Asp1025Ala)	CAMSAP2 (D1009A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3136871	NM_203459.4(CAMSAP2):c.436G>A (p.Ala146Thr)	CAMSAP2 (A146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136870	NM_203459.4(CAMSAP2):c.4102A>C (p.Asn1368His)	CAMSAP2 (N1363H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136869	NM_203459.4(CAMSAP2):c.3992C>T (p.Ala1331Val)	CAMSAP2 (A1315V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136868	NM_203459.4(CAMSAP2):c.3806C>A (p.Pro1269Gln)	CAMSAP2 (P1253Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136867	NM_203459.4(CAMSAP2):c.3697C>G (p.Leu1233Val)	CAMSAP2 (L1217V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136866	NM_203459.4(CAMSAP2):c.343A>G (p.Thr115Ala)	CAMSAP2 (T115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136865	NM_203459.4(CAMSAP2):c.3383T>G (p.Val1128Gly)	CAMSAP2 (V1123G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136864	NM_203459.4(CAMSAP2):c.2984C>T (p.Pro995Leu)	CAMSAP2 (P995L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136863	NM_203459.4(CAMSAP2):c.2781G>T (p.Gln927His)	CAMSAP2 (Q927H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136862	NM_203459.4(CAMSAP2):c.2639A>G (p.Tyr880Cys)	CAMSAP2 (Y875C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136861	NM_203459.4(CAMSAP2):c.2167C>T (p.His723Tyr)	CAMSAP2 (H707Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2608468	NM_203459.4(CAMSAP2):c.109G>T (p.Ala37Ser)	CAMSAP2 (A37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590312	NM_203459.4(CAMSAP2):c.3082C>T (p.Pro1028Ser)	CAMSAP2 (P1012S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545196	NM_203459.4(CAMSAP2):c.3715A>G (p.Thr1239Ala)	CAMSAP2 (T1223A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539387	NM_203459.4(CAMSAP2):c.1790G>A (p.Gly597Asp)	CAMSAP2 (G581D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529046	NM_203459.4(CAMSAP2):c.635G>C (p.Gly212Ala)	CAMSAP2 (G212A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524790	NM_203459.4(CAMSAP2):c.4174C>T (p.Arg1392Trp)	CAMSAP2 (R1376W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516888	NM_203459.4(CAMSAP2):c.4187G>A (p.Cys1396Tyr)	CAMSAP2 (C1380Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495567	NM_203459.4(CAMSAP2):c.3554G>A (p.Arg1185Gln)	CAMSAP2 (R1196Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480855	NM_203459.4(CAMSAP2):c.118G>A (p.Val40Met)	CAMSAP2 (V40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480004	NM_203459.4(CAMSAP2):c.1861G>A (p.Glu621Lys)	CAMSAP2 (E605K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468087	NM_203459.4(CAMSAP2):c.1342A>G (p.Ile448Val)	CAMSAP2 (I432V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463378	NM_203459.4(CAMSAP2):c.3682C>T (p.Arg1228Trp)	CAMSAP2 (R1223W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462383	NM_203459.4(CAMSAP2):c.3301G>A (p.Val1101Ile)	CAMSAP2 (V1096I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458872	NM_203459.4(CAMSAP2):c.61C>A (p.Pro21Thr)	CAMSAP2 (P21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2394970	NM_203459.4(CAMSAP2):c.2741A>G (p.Gln914Arg)	CAMSAP2 (Q898R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390085	NM_203459.4(CAMSAP2):c.3122A>T (p.Lys1041Met)	CAMSAP2 (K1025M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388007	NM_203459.4(CAMSAP2):c.3914G>C (p.Gly1305Ala)	CAMSAP2 (G1289A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386551	NM_203459.4(CAMSAP2):c.272G>A (p.Ser91Asn)	CAMSAP2 (S91N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382772	NM_203459.4(CAMSAP2):c.769G>A (p.Asp257Asn)	CAMSAP2 (D268N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372357	NM_203459.4(CAMSAP2):c.1120G>T (p.Ala374Ser)	CAMSAP2 (A374S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367023	NM_203459.4(CAMSAP2):c.1961C>G (p.Thr654Ser)	CAMSAP2 (T638S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364767	NM_203459.4(CAMSAP2):c.104A>G (p.Asn35Ser)	CAMSAP2 (N35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351744	NM_203459.4(CAMSAP2):c.803A>C (p.Glu268Ala)	CAMSAP2 (E268A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351490	NM_203459.4(CAMSAP2):c.3577A>G (p.Met1193Val)	CAMSAP2 (M1188V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343417	NM_203459.4(CAMSAP2):c.247C>T (p.Arg83Cys)	CAMSAP2 (R83C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338813	NM_203459.4(CAMSAP2):c.2180G>C (p.Trp727Ser)	CAMSAP2 (W727S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308684	NM_203459.4(CAMSAP2):c.3397T>C (p.Tyr1133His)	CAMSAP2 (Y1128H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308385	NM_203459.4(CAMSAP2):c.134G>A (p.Gly45Glu)	CAMSAP2 (G45E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300017	NM_203459.4(CAMSAP2):c.406C>T (p.His136Tyr)	CAMSAP2 (H136Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297982	NM_203459.4(CAMSAP2):c.4105G>A (p.Glu1369Lys)	CAMSAP2 (E1353K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293732	NM_203459.4(CAMSAP2):c.2045C>G (p.Ser682Cys)	CAMSAP2 (S677C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292357	NM_203459.4(CAMSAP2):c.3805C>T (p.Pro1269Ser)	CAMSAP2 (P1253S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255518	NM_203459.4(CAMSAP2):c.70C>T (p.His24Tyr)	CAMSAP2 (H24Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238527	NM_203459.4(CAMSAP2):c.3290C>A (p.Pro1097His)	CAMSAP2 (P1092H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237370	NM_203459.4(CAMSAP2):c.3379G>A (p.Asp1127Asn)	CAMSAP2 (D1138N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236028	NM_203459.4(CAMSAP2):c.1067C>T (p.Ala356Val)	CAMSAP2 (A367V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232163	NM_203459.4(CAMSAP2):c.3619G>C (p.Glu1207Gln)	CAMSAP2 (E1207Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223500	NM_203459.4(CAMSAP2):c.1348C>T (p.Arg450Cys)	CAMSAP2 (R434C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220369	NM_203459.4(CAMSAP2):c.1724T>C (p.Met575Thr)	CAMSAP2 (M575T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214610	NM_203459.4(CAMSAP2):c.2243C>G (p.Ser748Cys)	CAMSAP2 (S732C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808085	GRCh37/hg19 1q32.1(chr1:200795738-201013947)x3	CACNA1S, CAMSAP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 775151	NM_203459.4(CAMSAP2):c.3083C>G (p.Pro1028Arg)	CAMSAP2 (P1039R +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 685641	GRCh37/hg19 1q32.1(chr1:200575876-200784156)x4	CAMSAP2, DDX59 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 619058	NM_203459.4(CAMSAP2):c.2510T>G (p.Ile837Arg)	CAMSAP2 (I837R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 619057	NM_203459.4(CAMSAP2):c.1868T>C (p.Met623Thr)	CAMSAP2 (M623T +3 more)	Single nucleotide variant (missense variant)	Premature ovarian insufficiency	GUncertain significance
Select item 565210	GRCh37/hg19 1q32.1(chr1:200799541-201011646)x3	CACNA1S, CAMSAP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 80