10461[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	LOC130008976, LOC130008977 +264 more	Copy number gain	See cases	GUncertain significance
Select item 57609	GRCh38/hg38 12q24.31(chr12:120504068-122459718)x1	ACADS, ANAPC5 +175 more	Copy number loss	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 57610	GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1	ANAPC5, B3GNT4 +127 more	Copy number loss	See cases	GPathogenic
Select item 57611	GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1	B3GNT4, BCL7A +113 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 2244334	NM_001247997.2(CLIP1):c.4263C>G (p.Ile1421Met)	CLIP1 (I1375M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145819	NM_001247997.2(CLIP1):c.4259A>T (p.Glu1420Val)	CLIP1 (E1374V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434774	NM_001247997.2(CLIP1):c.4226A>G (p.His1409Arg)	CLIP1 (H1398R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304324	NM_001247997.2(CLIP1):c.4181C>G (p.Pro1394Arg)	CLIP1 (P1394R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 978177	NM_001247997.2(CLIP1):c.4118A>G (p.Lys1373Arg)	CLIP1 (K1327R +2 more)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 434775	NM_001247997.2(CLIP1):c.4066G>A (p.Gly1356Arg)	CLIP1 (G1345R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605203	NM_001247997.2(CLIP1):c.4007A>G (p.Lys1336Arg)	CLIP1 (K1290R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145818	NM_001247997.2(CLIP1):c.3998T>C (p.Leu1333Pro)	CLIP1 (L1322P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336261	NM_001247997.2(CLIP1):c.3967-11dup	CLIP1	Duplication (intron variant)	not specified	GBenign
Select item 3145816	NM_001247997.2(CLIP1):c.3942G>C (p.Glu1314Asp)	CLIP1 (E1303D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717357	NM_001247997.2(CLIP1):c.3924A>G (p.Thr1308=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745583	NM_001247997.2(CLIP1):c.3916+9C>T	CLIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2400912	NM_001247997.2(CLIP1):c.3908G>C (p.Ser1303Thr)	CLIP1 (S1257T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749337	NM_001247997.2(CLIP1):c.3849C>G (p.Leu1283=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434776	NM_001247997.2(CLIP1):c.3828A>G (p.Leu1276=)	CLIP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1696622	NM_001247997.2(CLIP1):c.3800A>G (p.Lys1267Arg)	CLIP1 (K1221R +3 more)	Single nucleotide variant (missense variant)	CLIP1-related intellectual disability +1 more	GUncertain significance
Select item 3040274	NM_001247997.2(CLIP1):c.3789C>T (p.Asn1263=)	CLIP1	Single nucleotide variant (synonymous variant)	CLIP1-related disorder	GLikely benign
Select item 1336583	NM_001247997.2(CLIP1):c.3709A>T (p.Ile1237Leu)	CLIP1 (I1191L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788442	NM_001247997.2(CLIP1):c.3670G>T (p.Ala1224Ser)	CLIP1 (A1178S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643497	NM_001247997.2(CLIP1):c.3567C>T (p.Ser1189=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3035703	NM_001247997.2(CLIP1):c.3522G>A (p.Ala1174=)	CLIP1	Single nucleotide variant (synonymous variant)	CLIP1-related disorder	GLikely benign
Select item 3145815	NM_001247997.2(CLIP1):c.3441G>T (p.Glu1147Asp)	CLIP1 (E1136D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145814	NM_001247997.2(CLIP1):c.3436G>A (p.Val1146Ile)	CLIP1 (V1146I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267754	NM_001247997.2(CLIP1):c.3424G>A (p.Glu1142Lys)	CLIP1 (E1852K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1337549	NM_001247997.2(CLIP1):c.3414C>G (p.Asn1138Lys)	CLIP1 (N1092K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681200	NM_001247997.2(CLIP1):c.3360G>T (p.Gln1120His)	CLIP1 (Q1074H +3 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 1336241	NM_001247997.2(CLIP1):c.3336C>T (p.Thr1112=)	CLIP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 733921	NM_001247997.2(CLIP1):c.3264G>A (p.Ala1088=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145813	NM_001247997.2(CLIP1):c.3263C>T (p.Ala1088Val)	CLIP1 (A1088V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791365	NM_001247997.2(CLIP1):c.3255T>C (p.Ala1085=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434777	NM_001247997.2(CLIP1):c.3249+10G>A	CLIP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3145812	NM_001247997.2(CLIP1):c.3185G>A (p.Arg1062Gln)	CLIP1 (R1016Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267751	NM_001247997.2(CLIP1):c.3184C>T (p.Arg1062Trp)	CLIP1 (R1016W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721639	NM_001247997.2(CLIP1):c.3180C>T (p.Gly1060=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2550092	NM_001247997.2(CLIP1):c.3149C>T (p.Thr1050Met)	CLIP1 (T1050M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538519	NM_001247997.2(CLIP1):c.3113C>G (p.Thr1038Ser)	CLIP1 (T1027S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267747	NM_001247997.2(CLIP1):c.3098C>T (p.Thr1033Ile)	CLIP1 (T1033I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434778	NM_001247997.2(CLIP1):c.3097A>T (p.Thr1033Ser)	CLIP1 (T1022S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 204298	NM_001247997.2(CLIP1):c.3061C>T (p.Gln1021Ter)	CLIP1 (Q1010* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3145811	NM_001247997.2(CLIP1):c.3059A>G (p.Asn1020Ser)	CLIP1 (N1009S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281104	NM_001247997.2(CLIP1):c.3056A>G (p.His1019Arg)	CLIP1 (H1008R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492356	NM_001247997.2(CLIP1):c.2974G>C (p.Glu992Gln)	CLIP1 (E981Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145809	NM_001247997.2(CLIP1):c.2922T>A (p.Phe974Leu)	CLIP1 (F963L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266914	NM_001247997.2(CLIP1):c.2845G>A (p.Asp949Asn)	CLIP1 (D903N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213908	NM_001247997.2(CLIP1):c.2840T>G (p.Met947Arg)	CLIP1 (M901R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267748	NM_001247997.2(CLIP1):c.2839A>G (p.Met947Val)	CLIP1 (M947V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267752	NM_001247997.2(CLIP1):c.2775A>C (p.Lys925Asn)	CLIP1 (K914N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337550	NM_001247997.2(CLIP1):c.2611C>G (p.Gln871Glu)	CLIP1 (Q860E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434790	NM_001247997.2(CLIP1):c.2571A>G (p.Lys857=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 434779	NM_001247997.2(CLIP1):c.2553A>G (p.Lys851=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 760899	NM_001247997.2(CLIP1):c.2547G>A (p.Leu849=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3145808	NM_001247997.2(CLIP1):c.2485G>C (p.Glu829Gln)	CLIP1 (E818Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688793	NM_001247997.2(CLIP1):c.2451+1G>T	CLIP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2558879	NM_001247997.2(CLIP1):c.2441A>G (p.Glu814Gly)	CLIP1 (E814G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734398	NM_001247997.2(CLIP1):c.2436T>C (p.Asn812=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434780	NM_001247997.2(CLIP1):c.2338C>T (p.Arg780Trp)	CLIP1 (R769W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2354568	NM_001247997.2(CLIP1):c.2229G>C (p.Lys743Asn)	CLIP1 (K697N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434781	NM_001247997.2(CLIP1):c.2229G>A (p.Lys743=)	CLIP1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3267750	NM_001247997.2(CLIP1):c.2212G>T (p.Ala738Ser)	CLIP1 (A692S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145807	NM_001247997.2(CLIP1):c.2192C>G (p.Thr731Arg)	CLIP1 (T720R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516136	NM_001247997.2(CLIP1):c.2176G>A (p.Val726Ile)	CLIP1 (V726I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522559	NM_001247997.2(CLIP1):c.2154C>A (p.Asp718Glu)	CLIP1 (D707E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145805	NM_001247997.2(CLIP1):c.2017G>A (p.Glu673Lys)	CLIP1 (E662K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282891	NM_001247997.2(CLIP1):c.1958C>T (p.Thr653Met)	CLIP1 (T607M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214501	NM_001247997.2(CLIP1):c.1955A>G (p.Glu652Gly)	CLIP1 (E606G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037615	NM_001247997.2(CLIP1):c.1893C>A (p.Ile631=)	CLIP1	Single nucleotide variant (synonymous variant)	CLIP1-related disorder	GLikely benign
Select item 2527499	NM_001247997.2(CLIP1):c.1891A>G (p.Ile631Val)	CLIP1 (I585V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267745	NM_001247997.2(CLIP1):c.1859T>C (p.Ile620Thr)	CLIP1 (I574T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332532	NM_001247997.2(CLIP1):c.1858A>G (p.Ile620Val)	CLIP1 (I609V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465114	NM_001247997.2(CLIP1):c.1784C>T (p.Thr595Met)	CLIP1 (T584M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145804	NM_001247997.2(CLIP1):c.1777A>G (p.Thr593Ala)	CLIP1 (T582A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267749	NM_001247997.2(CLIP1):c.1762A>T (p.Ile588Leu)	CLIP1 (I542L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403668	NM_001247997.2(CLIP1):c.1756A>G (p.Lys586Glu)	CLIP1 (K540E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236098	NM_001247997.2(CLIP1):c.1727A>G (p.His576Arg)	CLIP1 (H530R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434782	NM_001247997.2(CLIP1):c.1614T>C (p.Pro538=)	CLIP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1337345	NM_001247997.2(CLIP1):c.1608T>A (p.Asn536Lys)	CLIP1 (N490K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434783	NM_001247997.2(CLIP1):c.1607A>G (p.Asn536Ser)	CLIP1 (N525S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339714	NM_001247997.2(CLIP1):c.1600G>A (p.Glu534Lys)	CLIP1 (E534K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276877	NM_001247997.2(CLIP1):c.1589G>A (p.Arg530Gln)	CLIP1 (R530Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759597	NM_001247997.2(CLIP1):c.1584G>A (p.Glu528=)	CLIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529126	NM_001247997.2(CLIP1):c.1458T>G (p.Phe486Leu)	CLIP1 (F475L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3064659	NM_001247997.2(CLIP1):c.1426C>T (p.Arg476Cys)	CLIP1 (R465C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1696623	NM_001247997.2(CLIP1):c.1381A>G (p.Ile461Val)	CLIP1 (I461V)	Single nucleotide variant (missense variant +1 more)	CLIP1-related intellectual disability	GUncertain significance
Select item 2643498	NM_001247997.2(CLIP1):c.1371A>G (p.Gln457=)	CLIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3267744	NM_001247997.2(CLIP1):c.1331G>A (p.Arg444Gln)	CLIP1 (R444Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557239	NM_001247997.2(CLIP1):c.1282C>G (p.Leu428Val)	CLIP1 (L428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434784	NM_001247997.2(CLIP1):c.1204-3C>T	CLIP1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3145803	NM_001247997.2(CLIP1):c.1192G>A (p.Gly398Arg)	CLIP1 (G398R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241878	NM_001247997.2(CLIP1):c.1189G>A (p.Asp397Asn)	CLIP1 (D397N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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