158248[Gene ID] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 120

<< 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 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC108281127, LOC113839508 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002704, LOC130002705 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 2559896	NM_144965.3(TTC16):c.69G>C (p.Trp23Cys)	TTC16 (W23C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377245	NM_144965.3(TTC16):c.101A>C (p.His34Pro)	TTC16 (H34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493892	NM_144965.3(TTC16):c.129A>T (p.Gln43His)	TTC16 (Q43H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212256	NM_144965.3(TTC16):c.130A>T (p.Ser44Cys)	TTC16 (S44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184096	NM_144965.3(TTC16):c.173C>T (p.Pro58Leu)	TTC16 (P58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184104	NM_144965.3(TTC16):c.259G>A (p.Ala87Thr)	TTC16 (A87T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184105	NM_144965.3(TTC16):c.322C>T (p.Leu108Phe)	TTC16 (L108F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329772	NM_144965.3(TTC16):c.344C>T (p.Ala115Val)	TTC16 (A102V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184106	NM_144965.3(TTC16):c.352C>G (p.Leu118Val)	TTC16 (L105V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619054	NM_144965.3(TTC16):c.356G>A (p.Arg119Gln)	TTC16 (R119Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2659511	NM_144965.3(TTC16):c.369A>G (p.Ser123=)	TTC16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3184107	NM_144965.3(TTC16):c.596A>T (p.Gln199Leu)	TTC16 (Q199L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479604	NM_144965.3(TTC16):c.599A>G (p.Asp200Gly)	TTC16 (D187G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184108	NM_144965.3(TTC16):c.622A>G (p.Ile208Val)	TTC16 (I208V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184109	NM_144965.3(TTC16):c.626T>C (p.Phe209Ser)	TTC16 (F196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387077	NM_144965.3(TTC16):c.628C>T (p.Arg210Trp)	TTC16 (R197W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383157	NM_144965.3(TTC16):c.761C>T (p.Ala254Val)	TTC16 (A254V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514114	NM_144965.3(TTC16):c.764G>A (p.Arg255His)	TTC16 (R255H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365017	NM_144965.3(TTC16):c.773C>T (p.Ala258Val)	TTC16 (A245V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489254	NM_144965.3(TTC16):c.803A>G (p.Gln268Arg)	TTC16 (Q255R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184110	NM_144965.3(TTC16):c.815A>G (p.Gln272Arg)	TTC16 (Q272R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184111	NM_144965.3(TTC16):c.854C>T (p.Pro285Leu)	TTC16 (P285L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350135	NM_144965.3(TTC16):c.890G>A (p.Arg297Gln)	TTC16 (R284Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613414	NM_144965.3(TTC16):c.928A>G (p.Lys310Glu)	TTC16 (K297E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184112	NM_144965.3(TTC16):c.977C>T (p.Ala326Val)	TTC16 (A326V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480176	NM_144965.3(TTC16):c.995T>C (p.Leu332Pro)	TTC16 (L319P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622224	NM_144965.3(TTC16):c.1018C>A (p.His340Asn)	TTC16 (H327N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290605	NM_144965.3(TTC16):c.1029G>C (p.Arg343Ser)	TTC16 (R330S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184087	NM_144965.3(TTC16):c.1033G>T (p.Gly345Cys)	TTC16 (G332C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337661	NM_144965.3(TTC16):c.1051G>A (p.Val351Met)	TTC16 (V338M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309114	NM_144965.3(TTC16):c.1081G>A (p.Glu361Lys)	TTC16 (E361K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327602	NM_144965.3(TTC16):c.1100T>G (p.Leu367Arg)	TTC16 (L354R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184088	NM_144965.3(TTC16):c.1103A>G (p.Tyr368Cys)	TTC16 (Y368C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473295	NM_144965.3(TTC16):c.1112G>A (p.Arg371Gln)	TTC16 (R371Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590436	NM_144965.3(TTC16):c.1115G>T (p.Gly372Val)	TTC16 (G372V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296478	NM_144965.3(TTC16):c.1133T>G (p.Leu378Arg)	TTC16 (L365R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335617	NM_144965.3(TTC16):c.1171G>A (p.Ala391Thr)	TTC16 (A378T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300213	NM_144965.3(TTC16):c.1208C>T (p.Thr403Met)	TTC16 (T403M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184089	NM_144965.3(TTC16):c.1223T>G (p.Leu408Arg)	TTC16 (L408R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623742	NM_144965.3(TTC16):c.1223T>C (p.Leu408Pro)	TTC16 (L395P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298312	NM_144965.3(TTC16):c.1228G>C (p.Glu410Gln)	TTC16 (E397Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262384	NM_144965.3(TTC16):c.1237G>A (p.Gly413Ser)	TTC16 (G413S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336616	NM_144965.3(TTC16):c.1256G>A (p.Arg419His)	TTC16 (R406H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304265	NM_144965.3(TTC16):c.1292C>T (p.Thr431Met)	TTC16 (T418M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310707	NM_144965.3(TTC16):c.1303C>T (p.His435Tyr)	TTC16 (H422Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329773	NM_144965.3(TTC16):c.1310C>T (p.Pro437Leu)	TTC16 (P424L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206420	NM_144965.3(TTC16):c.1348C>T (p.Arg450Trp)	TTC16 (R437W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184091	NM_144965.3(TTC16):c.1370T>C (p.Phe457Ser)	TTC16 (F444S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184092	NM_144965.3(TTC16):c.1379G>A (p.Arg460His)	TTC16 (R447H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242558	NM_144965.3(TTC16):c.1379G>T (p.Arg460Leu)	TTC16 (R460L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184093	NM_144965.3(TTC16):c.1411C>T (p.Pro471Ser)	TTC16 (P458S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184094	NM_144965.3(TTC16):c.1460T>A (p.Met487Lys)	TTC16 (M474K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542913	NM_144965.3(TTC16):c.1519C>A (p.Gln507Lys)	TTC16 (Q507K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349087	NM_144965.3(TTC16):c.1552C>G (p.Pro518Ala)	TTC16 (P505A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329774	NM_144965.3(TTC16):c.1583A>T (p.His528Leu)	TTC16 (H515L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459730	NM_144965.3(TTC16):c.1594C>T (p.Arg532Cys)	TTC16 (R519C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184095	NM_144965.3(TTC16):c.1599G>C (p.Gln533His)	TTC16 (Q533H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329040	NM_144965.3(TTC16):c.1613T>C (p.Leu538Pro)	TTC16 (L525P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619429	NM_144965.3(TTC16):c.1628A>G (p.Lys543Arg)	TTC16 (K543R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598865	NM_144965.3(TTC16):c.1657G>A (p.Glu553Lys)	TTC16 (E553K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348137	NM_144965.3(TTC16):c.1689G>T (p.Gln563His)	TTC16 (Q550H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329776	NM_144965.3(TTC16):c.1768A>G (p.Lys590Glu)	TTC16 (K590E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184097	NM_144965.3(TTC16):c.1845C>A (p.Ser615Arg)	TTC16 (S602R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231263	NM_144965.3(TTC16):c.1945T>C (p.Ser649Pro)	TTC16 (S636P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184099	NM_144965.3(TTC16):c.1990G>A (p.Ala664Thr)	TTC16 (A651T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564179	NM_144965.3(TTC16):c.1994T>C (p.Leu665Pro)	TTC16 (L652P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602186	NM_144965.3(TTC16):c.2043C>A (p.Ser681Arg)	TTC16 (S681R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2618162	NM_144965.3(TTC16):c.2073G>T (p.Gln691His)	TTC16 (Q678H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567393	NM_144965.3(TTC16):c.2105T>C (p.Ile702Thr)	TTC16 (I702T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484540	NM_144965.3(TTC16):c.2201G>A (p.Ser734Asn)	TTC16 (S734N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364227	NM_144965.3(TTC16):c.2246T>C (p.Ile749Thr)	TTC16 (I736T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360184	NM_144965.3(TTC16):c.2297G>A (p.Arg766Gln)	TTC16 (R766Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2319995	NM_144965.3(TTC16):c.2338G>A (p.Gly780Ser)	TTC16 (G780S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184100	NM_144965.3(TTC16):c.2341C>T (p.Arg781Trp)	TTC16 (R781W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184102	NM_144965.3(TTC16):c.2342G>A (p.Arg781Gln)	TTC16 (R781Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329775	NM_144965.3(TTC16):c.2428G>C (p.Asp810His)	TTC16 (D810H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298737	NM_144965.3(TTC16):c.2453C>G (p.Thr818Ser)	TTC16 (T805S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184103	NM_144965.3(TTC16):c.2588T>C (p.Val863Ala)	TTC16 (V863A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31A +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527563	GRCh37/hg19 9q34.11(chr9:130392953-130526044)	CFAP157, PTRH1 +4 more	Copy number loss	not specified	GPathogenic

<< First< Prev

Page of 2