19946[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 197

<< First< Prev

Page of 2

	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 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 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 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 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 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	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 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	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 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 2203758	GRCh38/hg38 9q34.3(chr9:134962336-137240181)x1	LOC124375251, LOC126860788 +265 more	Copy number loss	See cases	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	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 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
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 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
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 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 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 2241793	NM_015447.4(CAMSAP1):c.4510C>A (p.Leu1504Met)	CAMSAP1 (L1504M +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 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 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 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 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 2211658	NM_015447.4(CAMSAP1):c.4261C>A (p.Pro1421Thr)	CAMSAP1 (P1421T +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 788825	NM_015447.4(CAMSAP1):c.4197C>T (p.Gly1399=)	CAMSAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1706471	NM_015447.4(CAMSAP1):c.4193C>G (p.Ser1398Ter)	CAMSAP1 (S1120* +1 more)	Single nucleotide variant (nonsense)	CAMSAP1-related neuronal migration disorder +1 more	GPathogenic/Likely pathogenic
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 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 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 2221674	NM_015447.4(CAMSAP1):c.3733G>A (p.Asp1245Asn)	CAMSAP1 (D1245N +1 more)	Single nucleotide variant (missense variant)	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 2252911	NM_015447.4(CAMSAP1):c.3661G>A (p.Val1221Ile)	CAMSAP1 (V943I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 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 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 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 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 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 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 2291420	NM_015447.4(CAMSAP1):c.3289C>T (p.Arg1097Trp)	CAMSAP1 (R1097W +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 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 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 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 972932	NM_015447.4(CAMSAP1):c.3130C>T (p.Gln1044Ter)	CAMSAP1 (Q1044*)	Single nucleotide variant (nonsense)	CAMSAP1-related neuronal migration disorder	GLikely pathogenic
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 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 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 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 2253357	NM_015447.4(CAMSAP1):c.2891G>C (p.Arg964Thr)	CAMSAP1 (R964T +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 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 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 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 2221476	NM_015447.4(CAMSAP1):c.2773G>A (p.Glu925Lys)	CAMSAP1 (E647K +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 1706470	NM_015447.4(CAMSAP1):c.2717_2738del (p.Gln906fs)	CAMSAP1 (Q906fs)	Deletion (frameshift variant)	Cortical dysplasia, complex, with other brain malformations 12 +1 more	GPathogenic/Likely pathogenic
Select item 2293519	NM_015447.4(CAMSAP1):c.2737G>C (p.Ala913Pro)	CAMSAP1 (A913P +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 1706469	NM_015447.4(CAMSAP1):c.2638C>T (p.Gln880Ter)	CAMSAP1 (Q602* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
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 2297655	NM_015447.4(CAMSAP1):c.2452G>A (p.Ala818Thr)	CAMSAP1 (A540T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 707850	NM_015447.4(CAMSAP1):c.2433C>T (p.Ser811=)	CAMSAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2490445	NM_015447.4(CAMSAP1):c.2335G>C (p.Val779Leu)	CAMSAP1 (V779L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2