CEMIP2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 155686	GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3	ABHD17B, APBA1 +79 more	Copy number gain	See cases	GLikely pathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 148414	GRCh38/hg38 9q21.12-21.13(chr9:70397983-71984116)x1	ABHD17B, C9orf85 +22 more	Copy number loss	See cases	GUncertain significance
Select item 3142207	NM_013390.3(CEMIP2):c.4105C>T (p.Arg1369Cys)	CEMIP2 (R731C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265841	NM_013390.3(CEMIP2):c.4018A>C (p.Ser1340Arg)	CEMIP2 (S1340R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206164	NM_013390.3(CEMIP2):c.3956-20_3956-18dup	CEMIP2	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 403552	NM_013390.3(CEMIP2):c.3956-20dup	CEMIP2	Duplication (intron variant)	not specified	GBenign
Select item 3142206	NM_013390.3(CEMIP2):c.3904C>T (p.His1302Tyr)	CEMIP2 (H1302Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142205	NM_013390.3(CEMIP2):c.3872C>T (p.Thr1291Ile)	CEMIP2 (T1291I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142204	NM_013390.3(CEMIP2):c.3848C>T (p.Pro1283Leu)	CEMIP2, LOC126860635 (P1220L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591670	NM_013390.3(CEMIP2):c.3814C>T (p.Arg1272Cys)	CEMIP2, LOC126860635 (R1272C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589693	NM_013390.3(CEMIP2):c.3773G>A (p.Arg1258His)	CEMIP2, LOC126860635 (R1195H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549549	NM_013390.3(CEMIP2):c.3762C>A (p.Ser1254Arg)	CEMIP2, LOC126860635 (S1254R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142203	NM_013390.3(CEMIP2):c.3758G>A (p.Cys1253Tyr)	CEMIP2, LOC126860635 (C615Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142202	NM_013390.3(CEMIP2):c.3755C>T (p.Pro1252Leu)	CEMIP2, LOC126860635 (P1252L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659253	NM_013390.3(CEMIP2):c.3735C>T (p.Val1245=)	CEMIP2, LOC126860635	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3142201	NM_013390.3(CEMIP2):c.3722G>A (p.Arg1241Gln)	CEMIP2, LOC126860635 (R1178Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476865	NM_013390.3(CEMIP2):c.3701A>G (p.Asn1234Ser)	CEMIP2, LOC126860635 (N1234S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142200	NM_013390.3(CEMIP2):c.3683C>T (p.Pro1228Leu)	CEMIP2 (P1228L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3142199	NM_013390.3(CEMIP2):c.3674G>A (p.Arg1225His)	CEMIP2 (R587H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463037	NM_013390.3(CEMIP2):c.3637G>A (p.Val1213Met)	CEMIP2 (V575M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142198	NM_013390.3(CEMIP2):c.3620A>G (p.His1207Arg)	CEMIP2 (H1144R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142196	NM_013390.3(CEMIP2):c.3566C>G (p.Thr1189Ser)	CEMIP2 (T1189S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455528	NM_013390.3(CEMIP2):c.3565A>G (p.Thr1189Ala)	CEMIP2 (T1189A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142195	NM_013390.3(CEMIP2):c.3547C>T (p.Arg1183Trp)	CEMIP2 (R1183W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607264	NM_013390.3(CEMIP2):c.3533C>T (p.Pro1178Leu)	CEMIP2 (P1178L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265848	NM_013390.3(CEMIP2):c.3503C>T (p.Ala1168Val)	CEMIP2 (A1168V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142193	NM_013390.3(CEMIP2):c.3490A>G (p.Ser1164Gly)	CEMIP2 (S1164G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142192	NM_013390.3(CEMIP2):c.3483G>C (p.Lys1161Asn)	CEMIP2 (K1098N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142191	NM_013390.3(CEMIP2):c.3454G>C (p.Val1152Leu)	CEMIP2 (V514L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532029	NM_013390.3(CEMIP2):c.3445T>C (p.Cys1149Arg)	CEMIP2 (C1086R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142190	NM_013390.3(CEMIP2):c.3346G>A (p.Glu1116Lys)	CEMIP2 (E478K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142189	NM_013390.3(CEMIP2):c.3329T>C (p.Leu1110Pro)	CEMIP2 (L1110P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142188	NM_013390.3(CEMIP2):c.3211G>T (p.Val1071Phe)	CEMIP2 (V433F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142187	NM_013390.3(CEMIP2):c.3191A>G (p.Asn1064Ser)	CEMIP2 (N1001S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827847	NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter)	CEMIP2 (W1048* +2 more)	Single nucleotide variant (nonsense)	Hypertelorism +5 more	GPathogenic
Select item 3142186	NM_013390.3(CEMIP2):c.3125A>G (p.Lys1042Arg)	CEMIP2 (K404R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531703	NM_013390.3(CEMIP2):c.3055C>T (p.Pro1019Ser)	CEMIP2 (P1019S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142184	NM_013390.3(CEMIP2):c.3049T>A (p.Ser1017Thr)	CEMIP2 (S379T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265844	NM_013390.3(CEMIP2):c.3047C>T (p.Pro1016Leu)	CEMIP2 (P1016L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142183	NM_013390.3(CEMIP2):c.2993T>C (p.Val998Ala)	CEMIP2 (V360A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142182	NM_013390.3(CEMIP2):c.2963T>C (p.Ile988Thr)	CEMIP2 (I350T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142181	NM_013390.3(CEMIP2):c.2825T>C (p.Met942Thr)	CEMIP2 (M879T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455509	NM_013390.3(CEMIP2):c.2814A>C (p.Glu938Asp)	CEMIP2 (E875D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142180	NM_013390.3(CEMIP2):c.2800G>T (p.Gly934Cys)	CEMIP2 (G296C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142179	NM_013390.3(CEMIP2):c.2752G>A (p.Val918Met)	CEMIP2 (V855M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142178	NM_013390.3(CEMIP2):c.2725A>G (p.Ile909Val)	CEMIP2 (I846V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265839	NM_013390.3(CEMIP2):c.2632A>G (p.Ile878Val)	CEMIP2 (I815V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142176	NM_013390.3(CEMIP2):c.2594C>T (p.Thr865Met)	CEMIP2 (T227M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142175	NM_013390.3(CEMIP2):c.2491T>C (p.Phe831Leu)	CEMIP2 (F193L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461267	NM_013390.3(CEMIP2):c.2344A>C (p.Asn782His)	CEMIP2 (N719H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265847	NM_013390.3(CEMIP2):c.2296G>A (p.Glu766Lys)	CEMIP2 (E128K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617086	NM_013390.3(CEMIP2):c.2245C>G (p.Leu749Val)	CEMIP2 (L749V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142174	NM_013390.3(CEMIP2):c.2209A>G (p.Thr737Ala)	CEMIP2 (T737A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142173	NM_013390.3(CEMIP2):c.2200G>A (p.Gly734Ser)	CEMIP2 (G96S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142172	NM_013390.3(CEMIP2):c.2188T>C (p.Phe730Leu)	CEMIP2 (F667L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142171	NM_013390.3(CEMIP2):c.2175T>G (p.Phe725Leu)	CEMIP2 (F725L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623504	NM_013390.3(CEMIP2):c.2017A>G (p.Asn673Asp)	CEMIP2 (N610D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142169	NM_013390.3(CEMIP2):c.1880C>T (p.Pro627Leu)	CEMIP2 (P564L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142168	NM_013390.3(CEMIP2):c.1858A>G (p.Asn620Asp)	CEMIP2 (N557D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142167	NM_013390.3(CEMIP2):c.1841G>A (p.Arg614Lys)	CEMIP2 (R551K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265840	NM_013390.3(CEMIP2):c.1747A>G (p.Thr583Ala)	CEMIP2 (T583A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142166	NM_013390.3(CEMIP2):c.1744A>C (p.Ile582Leu)	CEMIP2 (I582L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142165	NM_013390.3(CEMIP2):c.1741T>G (p.Cys581Gly)	CEMIP2 (C518G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142162	NM_013390.3(CEMIP2):c.1540G>A (p.Asp514Asn)	CEMIP2 (D451N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142161	NM_013390.3(CEMIP2):c.1521G>C (p.Gln507His)	CEMIP2 (Q444H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142160	NM_013390.3(CEMIP2):c.1510G>A (p.Ala504Thr)	CEMIP2 (A441T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142159	NM_013390.3(CEMIP2):c.1441A>C (p.Met481Leu)	CEMIP2 (M418L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142158	NM_013390.3(CEMIP2):c.1427T>C (p.Ile476Thr)	CEMIP2 (I476T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659254	NM_013390.3(CEMIP2):c.1419T>C (p.Gly473=)	CEMIP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 827846	NM_013390.3(CEMIP2):c.1358G>A (p.Cys453Tyr)	CEMIP2 (C453Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Hypertelorism +5 more	GPathogenic
Select item 3142157	NM_013390.3(CEMIP2):c.1298T>C (p.Ile433Thr)	CEMIP2 (I433T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3142156	NM_013390.3(CEMIP2):c.1297A>G (p.Ile433Val)	CEMIP2 (I433V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3142155	NM_013390.3(CEMIP2):c.1286C>T (p.Pro429Leu)	CEMIP2 (P429L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3142154	NM_013390.3(CEMIP2):c.1238T>C (p.Val413Ala)	CEMIP2 (V413A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3142153	NM_013390.3(CEMIP2):c.1226G>A (p.Arg409Gln)	CEMIP2 (R409Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3142216	NM_013390.3(CEMIP2):c.844A>G (p.Ser282Gly)	CEMIP2 (S282G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142215	NM_013390.3(CEMIP2):c.803A>G (p.Asn268Ser)	CEMIP2 (N268S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142214	NM_013390.3(CEMIP2):c.791C>T (p.Ser264Phe)	CEMIP2 (S264F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142213	NM_013390.3(CEMIP2):c.779A>G (p.Glu260Gly)	CEMIP2 (E260G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142212	NM_013390.3(CEMIP2):c.752G>C (p.Gly251Ala)	CEMIP2 (G251A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234491	NM_013390.3(CEMIP2):c.747C>A (p.Ser249=)	CEMIP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3265849	NM_013390.3(CEMIP2):c.736A>T (p.Thr246Ser)	CEMIP2 (T246S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2659255	NM_013390.3(CEMIP2):c.663T>C (p.Phe221=)	CEMIP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3142209	NM_013390.3(CEMIP2):c.602C>T (p.Thr201Ile)	CEMIP2 (T201I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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