ClinVar for Gene (Select 157922) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263058	NM_015447.4(CAMSAP1):c.4595A>G (p.Asp1532Gly)	CAMSAP1 (D1254G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263057	NM_015447.4(CAMSAP1):c.1316A>G (p.Asp439Gly)	CAMSAP1 (D439G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263056	NM_015447.4(CAMSAP1):c.2234T>C (p.Ile745Thr)	CAMSAP1 (I467T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263055	NM_015447.4(CAMSAP1):c.2826C>A (p.His942Gln)	CAMSAP1 (H942Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263054	NM_015447.4(CAMSAP1):c.1075C>T (p.Arg359Trp)	CAMSAP1 (R359W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263053	NM_015447.4(CAMSAP1):c.1747T>C (p.Ser583Pro)	CAMSAP1 (S305P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3263052	NM_015447.4(CAMSAP1):c.4355C>G (p.Ala1452Gly)	CAMSAP1 (A1452G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263051	NM_015447.4(CAMSAP1):c.4072C>G (p.Leu1358Val)	CAMSAP1 (L1080V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263050	NM_015447.4(CAMSAP1):c.923T>A (p.Met308Lys)	CAMSAP1 (M308K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263049	NM_015447.4(CAMSAP1):c.2566A>G (p.Arg856Gly)	CAMSAP1 (R578G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263046	NM_015447.4(CAMSAP1):c.3473G>T (p.Gly1158Val)	CAMSAP1 (G1158V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263045	NM_015447.4(CAMSAP1):c.856A>G (p.Ile286Val)	CAMSAP1 (I8V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263044	NM_015447.4(CAMSAP1):c.3386C>G (p.Thr1129Arg)	CAMSAP1 (T1129R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263043	NM_015447.4(CAMSAP1):c.1489C>T (p.Arg497Cys)	CAMSAP1 (R497C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263042	NM_015447.4(CAMSAP1):c.4262C>A (p.Pro1421His)	CAMSAP1 (P1143H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263041	NM_015447.4(CAMSAP1):c.1547A>G (p.Gln516Arg)	CAMSAP1 (Q238R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263040	NM_015447.4(CAMSAP1):c.3098C>T (p.Thr1033Met)	CAMSAP1 (T1033M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263039	NM_015447.4(CAMSAP1):c.3241C>T (p.Pro1081Ser)	CAMSAP1 (P803S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263038	NM_015447.4(CAMSAP1):c.2122G>A (p.Asp708Asn)	CAMSAP1 (D430N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263037	NM_015447.4(CAMSAP1):c.1353T>G (p.Asp451Glu)	CAMSAP1 (D451E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263035	NM_015447.4(CAMSAP1):c.62A>G (p.Asp21Gly)	CAMSAP1 (D21G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3263034	NM_015447.4(CAMSAP1):c.1442C>T (p.Ala481Val)	CAMSAP1 (A203V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263033	NM_015447.4(CAMSAP1):c.1693C>T (p.Arg565Trp)	CAMSAP1 (R287W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263032	NM_015447.4(CAMSAP1):c.4412G>C (p.Ser1471Thr)	CAMSAP1 (S1193T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3263031	NM_015447.4(CAMSAP1):c.253A>G (p.Ser85Gly)	CAMSAP1 (S85G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	ABCA2, ABL1 +147 more	Duplication	not provided	GUncertain significance
Select item 3136860	NM_015447.4(CAMSAP1):c.565A>G (p.Met189Val)	CAMSAP1 (M189V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136859	NM_015447.4(CAMSAP1):c.4772G>A (p.Arg1591Gln)	CAMSAP1 (R1591Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136858	NM_015447.4(CAMSAP1):c.4335C>G (p.Asp1445Glu)	CAMSAP1 (D1445E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136857	NM_015447.4(CAMSAP1):c.4201A>T (p.Ser1401Cys)	CAMSAP1 (S1401C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136856	NM_015447.4(CAMSAP1):c.374A>C (p.Asp125Ala)	CAMSAP1 (D125A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3136855	NM_015447.4(CAMSAP1):c.3720C>G (p.Asp1240Glu)	CAMSAP1 (D962E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136854	NM_015447.4(CAMSAP1):c.3667G>A (p.Val1223Met)	CAMSAP1 (V945M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136852	NM_015447.4(CAMSAP1):c.3311C>T (p.Pro1104Leu)	CAMSAP1 (P826L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136851	NM_015447.4(CAMSAP1):c.3225C>A (p.Phe1075Leu)	CAMSAP1 (F797L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136850	NM_015447.4(CAMSAP1):c.3150G>T (p.Met1050Ile)	CAMSAP1 (M1050I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136848	NM_015447.4(CAMSAP1):c.2924A>T (p.Asp975Val)	CAMSAP1 (D697V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136847	NM_015447.4(CAMSAP1):c.2875G>A (p.Val959Met)	CAMSAP1 (V959M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136846	NM_015447.4(CAMSAP1):c.2806G>C (p.Ala936Pro)	CAMSAP1 (A658P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136845	NM_015447.4(CAMSAP1):c.2783C>T (p.Pro928Leu)	CAMSAP1 (P650L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3136844	NM_015447.4(CAMSAP1):c.2434G>A (p.Val812Met)	CAMSAP1 (V534M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136843	NM_015447.4(CAMSAP1):c.2312C>T (p.Ala771Val)	CAMSAP1 (A771V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136842	NM_015447.4(CAMSAP1):c.2294T>C (p.Ile765Thr)	CAMSAP1 (I765T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136841	NM_015447.4(CAMSAP1):c.2038G>A (p.Gly680Ser)	CAMSAP1 (G402S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136840	NM_015447.4(CAMSAP1):c.1940A>G (p.Asn647Ser)	CAMSAP1 (N369S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136839	NM_015447.4(CAMSAP1):c.1928G>T (p.Ser643Ile)	CAMSAP1 (S365I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136838	NM_015447.4(CAMSAP1):c.1888G>A (p.Glu630Lys)	CAMSAP1 (E352K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136837	NM_015447.4(CAMSAP1):c.1838A>C (p.Asp613Ala)	CAMSAP1 (D613A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136836	NM_015447.4(CAMSAP1):c.1709C>G (p.Thr570Arg)	CAMSAP1 (T292R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136835	NM_015447.4(CAMSAP1):c.1433A>G (p.His478Arg)	CAMSAP1 (H200R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136834	NM_015447.4(CAMSAP1):c.1346G>A (p.Arg449Gln)	CAMSAP1 (R449Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136833	NM_015447.4(CAMSAP1):c.1224C>T (p.Leu408=)	CAMSAP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3063105	GRCh37/hg19 9q34.3(chr9:137892345-138866686)x3	CAMSAP1, GLT6D1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2659724	NM_015447.4(CAMSAP1):c.1704C>T (p.Gly568=)	CAMSAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624208	NM_015447.4(CAMSAP1):c.4775C>T (p.Pro1592Leu)	CAMSAP1 (P1592L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622903	NM_015447.4(CAMSAP1):c.2705T>A (p.Leu902Gln)	CAMSAP1 (L624Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603557	NM_015447.4(CAMSAP1):c.893A>G (p.Asn298Ser)	CAMSAP1 (N20S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599349	NM_015447.4(CAMSAP1):c.268C>T (p.Arg90Cys)	CAMSAP1 (R90C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594374	NM_015447.4(CAMSAP1):c.2386C>G (p.Leu796Val)	CAMSAP1 (L796V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2581889	NM_015447.4(CAMSAP1):c.884A>C (p.Glu295Ala)	CAMSAP1 (E17A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581779	NM_015447.4(CAMSAP1):c.3587G>T (p.Ser1196Ile)	CAMSAP1 (S1196I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559759	NM_015447.4(CAMSAP1):c.1700T>C (p.Leu567Ser)	CAMSAP1 (L289S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2559147	NM_015447.4(CAMSAP1):c.3245C>T (p.Thr1082Met)	CAMSAP1 (T1082M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557471	NM_015447.4(CAMSAP1):c.3614T>C (p.Val1205Ala)	CAMSAP1 (V927A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544900	NM_015447.4(CAMSAP1):c.125A>G (p.Asn42Ser)	CAMSAP1 (N42S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534996	NM_015447.4(CAMSAP1):c.2897A>T (p.Glu966Val)	CAMSAP1 (E966V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517401	NM_015447.4(CAMSAP1):c.85C>A (p.Leu29Met)	CAMSAP1 (L29M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516127	NM_015447.4(CAMSAP1):c.64G>C (p.Gly22Arg)	CAMSAP1 (G22R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490445	NM_015447.4(CAMSAP1):c.2335G>C (p.Val779Leu)	CAMSAP1 (V779L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490216	NM_015447.4(CAMSAP1):c.2767A>G (p.Lys923Glu)	CAMSAP1 (K645E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489691	NM_015447.4(CAMSAP1):c.4133C>T (p.Ser1378Leu)	CAMSAP1 (S1378L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480280	NM_015447.4(CAMSAP1):c.3492T>G (p.Cys1164Trp)	CAMSAP1 (C1164W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464999	NM_015447.4(CAMSAP1):c.1097A>G (p.Asn366Ser)	CAMSAP1 (N366S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459291	NM_015447.4(CAMSAP1):c.1709C>T (p.Thr570Ile)	CAMSAP1 (T292I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2456534	NM_015447.4(CAMSAP1):c.3490T>C (p.Cys1164Arg)	CAMSAP1 (C1164R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ABCA2, ADAMTS13 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 2410849	NM_015447.4(CAMSAP1):c.1359G>C (p.Gln453His)	CAMSAP1 (Q453H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405943	NM_015447.4(CAMSAP1):c.994A>T (p.Asn332Tyr)	CAMSAP1 (N54Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404434	NM_015447.4(CAMSAP1):c.1046C>T (p.Ala349Val)	CAMSAP1 (A71V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384115	NM_015447.4(CAMSAP1):c.1159C>A (p.Pro387Thr)	CAMSAP1 (P109T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375539	NM_015447.4(CAMSAP1):c.3386C>T (p.Thr1129Met)	CAMSAP1 (T851M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361906	NM_015447.4(CAMSAP1):c.3314C>T (p.Ala1105Val)	CAMSAP1 (A827V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351489	NM_015447.4(CAMSAP1):c.2012C>T (p.Ser671Leu)	CAMSAP1 (S393L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348168	NM_015447.4(CAMSAP1):c.1955C>G (p.Pro652Arg)	CAMSAP1 (P374R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347072	NM_015447.4(CAMSAP1):c.1397C>A (p.Thr466Asn)	CAMSAP1 (T466N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343975	NM_015447.4(CAMSAP1):c.3465G>T (p.Glu1155Asp)	CAMSAP1 (E1155D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2343974	NM_015447.4(CAMSAP1):c.2134G>A (p.Glu712Lys)	CAMSAP1 (E712K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326366	NM_015447.4(CAMSAP1):c.1157C>G (p.Pro386Arg)	CAMSAP1 (P108R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322244	NM_015447.4(CAMSAP1):c.3275G>A (p.Arg1092Gln)	CAMSAP1 (R814Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321177	NM_015447.4(CAMSAP1):c.3034G>T (p.Gly1012Trp)	CAMSAP1 (G734W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311258	NM_015447.4(CAMSAP1):c.4378G>A (p.Glu1460Lys)	CAMSAP1 (E1460K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310252	NM_015447.4(CAMSAP1):c.3982G>T (p.Val1328Leu)	CAMSAP1 (V1050L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309335	NM_015447.4(CAMSAP1):c.2818T>C (p.Ser940Pro)	CAMSAP1 (S662P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308957	NM_015447.4(CAMSAP1):c.2219C>T (p.Ser740Leu)	CAMSAP1 (S462L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305881	NM_015447.4(CAMSAP1):c.76C>T (p.Leu26Phe)	CAMSAP1 (L26F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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