6621[geneid] - 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	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 144296	GRCh38/hg38 9q34.11-34.3(chr9:130513207-138124532)x3	LOC130003057, LOC130003058 +656 more	Copy number gain	See cases	GPathogenic
Select item 154569	GRCh38/hg38 9q34.13-34.3(chr9:132386553-138059695)x3	LOC130003026, LOC130003027 +530 more	Copy number gain	See cases	GPathogenic
Select item 147626	GRCh38/hg38 9q34.13-34.3(chr9:132986903-138114463)x3	ABCA2, ABO +510 more	Copy number gain	See cases	GPathogenic
Select item 148759	GRCh38/hg38 9q34.2-34.3(chr9:133504071-138159073)x3	LOC129390118, LOC130002920 +439 more	Copy number gain	See cases	GPathogenic
Select item 154888	GRCh38/hg38 9q34.2-34.3(chr9:133918071-138159073)x3	INPP5E, KCNT1 +417 more	Copy number gain	See cases	GPathogenic
Select item 151031	GRCh38/hg38 9q34.2-34.3(chr9:133996227-138124524)x3	LOC130003077, LOC130003078 +405 more	Copy number gain	See cases	GPathogenic
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 145568	GRCh38/hg38 9q34.3(chr9:135164984-136437047)x3	CAMSAP1, CARD9 +86 more	Copy number gain	See cases	GUncertain significance
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 155327	GRCh38/hg38 9q34.3(chr9:135704780-138125937)x4	QSOX2, RABL6 +324 more	Copy number gain	See cases	GLikely pathogenic
Select item 59139	GRCh38/hg38 9q34.3(chr9:136323542-136565950)x1	C9orf163, CARD9 +46 more	Copy number loss	See cases	GPathogenic
Select item 161082	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	LOC130003070, LOC130003071 +283 more	Copy number loss	See cases	GPathogenic
Select item 57416	GRCh38/hg38 9q34.3(chr9:136323974-138124532)x1	ABCA2, AGPAT2 +284 more	Copy number loss	See cases	GPathogenic
Select item 34625	GRCh38/hg38 9q34.3(chr9:136323974-138014606)x1	ABCA2, AGPAT2 +283 more	Copy number loss	See cases	GPathogenic
Select item 3321139	NM_003086.4(SNAPC4):c.4399C>T (p.Arg1467Trp)	SNAPC4 (R1467W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454914	NM_003086.4(SNAPC4):c.4394G>A (p.Arg1465Gln)	SNAPC4 (R1437Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511591	NM_003086.4(SNAPC4):c.4316C>T (p.Ser1439Phe)	SNAPC4 (S1411F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321153	NM_003086.4(SNAPC4):c.4296C>G (p.Asp1432Glu)	SNAPC4 (D1404E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256888	NM_003086.4(SNAPC4):c.4289C>A (p.Ala1430Asp)	SNAPC4 (A1430D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215082	NM_003086.4(SNAPC4):c.4253C>T (p.Pro1418Leu)	SNAPC4 (P1390L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517735	NM_003086.4(SNAPC4):c.4231C>T (p.Leu1411Phe)	SNAPC4 (L1411F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402489	NM_003086.4(SNAPC4):c.4221T>C (p.Ser1407=)	CARD9, SNAPC4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3166930	NM_003086.4(SNAPC4):c.4213C>T (p.Leu1405Phe)	SNAPC4 (L1377F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368256	NM_003086.4(SNAPC4):c.4181C>T (p.Ser1394Leu)	SNAPC4 (S1366L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237245	NM_003086.4(SNAPC4):c.4180T>A (p.Ser1394Thr)	SNAPC4 (S1394T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2514786	NM_003086.4(SNAPC4):c.4174G>A (p.Val1392Ile)	SNAPC4 (V1364I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321135	NM_003086.4(SNAPC4):c.4160G>A (p.Arg1387His)	SNAPC4 (R1387H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359343	NM_003086.4(SNAPC4):c.4151A>G (p.Gln1384Arg)	SNAPC4 (Q1356R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321142	NM_003086.4(SNAPC4):c.4129C>G (p.Leu1377Val)	SNAPC4 (L1377V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166928	NM_003086.4(SNAPC4):c.4112C>T (p.Ala1371Val)	SNAPC4 (A1343V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455084	NM_003086.4(SNAPC4):c.4099C>T (p.Arg1367Trp)	SNAPC4 (R1339W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166927	NM_003086.4(SNAPC4):c.4076C>T (p.Pro1359Leu)	SNAPC4 (P1359L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166926	NM_003086.4(SNAPC4):c.4063C>T (p.Leu1355Phe)	SNAPC4 (L1327F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350638	NM_003086.4(SNAPC4):c.4037C>T (p.Ala1346Val)	SNAPC4 (A1318V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522683	NM_003086.4(SNAPC4):c.4028C>T (p.Ala1343Val)	SNAPC4 (A1343V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166925	NM_003086.4(SNAPC4):c.4016G>A (p.Arg1339Gln)	SNAPC4 (R1311Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392730	NM_003086.4(SNAPC4):c.4000G>C (p.Gly1334Arg)	SNAPC4 (G1334R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166924	NM_003086.4(SNAPC4):c.3998T>G (p.Val1333Gly)	SNAPC4 (V1333G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659732	NM_003086.4(SNAPC4):c.3940C>T (p.Leu1314=)	SNAPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 207897	NM_003086.4(SNAPC4):c.3935G>A (p.Arg1312Gln)	SNAPC4 (R1312Q +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2279521	NM_003086.4(SNAPC4):c.3886C>T (p.Leu1296Phe)	SNAPC4 (L1296F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277496	NM_003086.4(SNAPC4):c.3837G>C (p.Glu1279Asp)	SNAPC4 (E1279D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485731	NM_003086.4(SNAPC4):c.3830A>G (p.Glu1277Gly)	SNAPC4 (E1277G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603257	NM_003086.4(SNAPC4):c.3823T>C (p.Ser1275Pro)	SNAPC4 (S1247P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321149	NM_003086.4(SNAPC4):c.3785C>G (p.Pro1262Arg)	SNAPC4 (P1234R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294789	NM_003086.4(SNAPC4):c.3784C>G (p.Pro1262Ala)	SNAPC4 (P1234A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402490	NM_003086.4(SNAPC4):c.3777A>G (p.Leu1259=)	CARD9, SNAPC4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3321140	NM_003086.4(SNAPC4):c.3770C>T (p.Pro1257Leu)	SNAPC4 (P1229L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208963	NM_003086.4(SNAPC4):c.3728G>A (p.Arg1243His)	SNAPC4 (R1215H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361075	NM_003086.4(SNAPC4):c.3727C>T (p.Arg1243Cys)	SNAPC4 (R1243C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374919	NM_003086.4(SNAPC4):c.3665C>T (p.Pro1222Leu)	SNAPC4 (P1194L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2204753	NM_003086.4(SNAPC4):c.3662C>T (p.Thr1221Met)	SNAPC4 (T1221M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589715	NM_003086.4(SNAPC4):c.3628G>A (p.Gly1210Ser)	SNAPC4 (G1182S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321132	NM_003086.4(SNAPC4):c.3577G>A (p.Ala1193Thr)	SNAPC4 (A1165T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281366	NM_003086.4(SNAPC4):c.3500C>T (p.Ala1167Val)	SNAPC4 (A1167V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166922	NM_003086.4(SNAPC4):c.3475G>A (p.Ala1159Thr)	SNAPC4 (A1159T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659733	NM_003086.4(SNAPC4):c.3474C>T (p.His1158=)	SNAPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2466384	NM_003086.4(SNAPC4):c.3431C>T (p.Pro1144Leu)	SNAPC4 (P1116L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620805	NM_003086.4(SNAPC4):c.3420G>T (p.Met1140Ile)	SNAPC4 (M1112I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166921	NM_003086.4(SNAPC4):c.3358C>T (p.Arg1120Trp)	SNAPC4 (R1120W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480173	NM_003086.4(SNAPC4):c.3310G>T (p.Gly1104Cys)	SNAPC4 (G1076C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494739	NM_003086.4(SNAPC4):c.3298G>A (p.Ala1100Thr)	SNAPC4 (A1072T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166920	NM_003086.4(SNAPC4):c.3284G>A (p.Ser1095Asn)	SNAPC4 (S1067N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493042	NM_003086.4(SNAPC4):c.3268G>A (p.Val1090Ile)	SNAPC4 (V1062I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166919	NM_003086.4(SNAPC4):c.3262G>T (p.Val1088Phe)	SNAPC4 (V1060F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321151	NM_003086.4(SNAPC4):c.3254T>G (p.Leu1085Arg)	SNAPC4 (L1057R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402500	NM_003086.4(SNAPC4):c.3235G>A (p.Val1079Met)	SNAPC4 (V1079M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352268	NM_003086.4(SNAPC4):c.3230C>T (p.Thr1077Ile)	SNAPC4 (T1049I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321143	NM_003086.4(SNAPC4):c.3196C>G (p.Pro1066Ala)	SNAPC4 (P1038A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522930	NM_003086.4(SNAPC4):c.3169C>T (p.Pro1057Ser)	SNAPC4 (P1029S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489834	NM_003086.4(SNAPC4):c.3142C>G (p.Pro1048Ala)	SNAPC4 (P1020A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396794	NM_003086.4(SNAPC4):c.3134C>T (p.Pro1045Leu)	SNAPC4 (P1045L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514362	NM_003086.4(SNAPC4):c.3109C>G (p.Leu1037Val)	SNAPC4 (L1009V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166918	NM_003086.4(SNAPC4):c.3097C>T (p.Arg1033Trp)	SNAPC4 (R1005W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166917	NM_003086.4(SNAPC4):c.3088G>A (p.Ala1030Thr)	SNAPC4 (A1030T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166916	NM_003086.4(SNAPC4):c.3070G>C (p.Gly1024Arg)	SNAPC4 (G996R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220437	NM_003086.4(SNAPC4):c.3070G>A (p.Gly1024Arg)	SNAPC4 (G1024R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166915	NM_003086.4(SNAPC4):c.3058G>A (p.Glu1020Lys)	SNAPC4 (E1020K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321141	NM_003086.4(SNAPC4):c.3034G>A (p.Gly1012Ser)	SNAPC4 (G1012S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3166914	NM_003086.4(SNAPC4):c.2969C>T (p.Ala990Val)	SNAPC4 (A962V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519787	NM_003086.4(SNAPC4):c.2968G>A (p.Ala990Thr)	SNAPC4 (A990T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166913	NM_003086.4(SNAPC4):c.2875G>A (p.Ala959Thr)	SNAPC4 (A931T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336278	NM_003086.4(SNAPC4):c.2852C>T (p.Pro951Leu)	SNAPC4 (P923L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321150	NM_003086.4(SNAPC4):c.2815G>A (p.Gly939Ser)	SNAPC4 (G911S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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