3376[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	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +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)	LOC110120726, LOC110120727 +3785 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 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 58479	GRCh38/hg38 9q22.31(chr9:91935027-92331095)x3	CENPP, IARS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 154976	GRCh38/hg38 9q22.31(chr9:92094765-92337566)x3	LOC130002066, CENPP +11 more	Copy number gain	See cases	GUncertain significance
Select item 3107821	NM_002161.6(IARS1):c.3775A>G (p.Thr1259Ala)	IARS1 (T1208A +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736453	NM_002161.6(IARS1):c.3727G>A (p.Val1243Met)	IARS1 (V1215M +2 more)	Single nucleotide variant (missense variant +1 more)	IARS1-related disorder +1 more	GBenign/Likely benign
Select item 2659304	NM_002161.6(IARS1):c.3720C>T (p.Asp1240=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 744089	NM_002161.6(IARS1):c.3713C>T (p.Thr1238Ile)	IARS1 (T1213I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3107820	NM_002161.6(IARS1):c.3707-4C>A	IARS1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1936148	NM_002161.6(IARS1):c.3707-7A>G	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910994	NM_002161.6(IARS1):c.3707-16T>C	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971506	NM_002161.6(IARS1):c.3706+18C>T	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947253	NM_002161.6(IARS1):c.3706+8G>A	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1982721	NM_002161.6(IARS1):c.3702G>A (p.Thr1234=)	IARS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1033899	NM_002161.6(IARS1):c.3693G>C (p.Glu1231Asp)	IARS1 (E1199D +10 more)	Single nucleotide variant (missense variant +2 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	GUncertain significance
Select item 978179	NM_002161.6(IARS1):c.3688A>G (p.Asn1230Asp)	IARS1 (N1182D +10 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability	GUncertain significance
Select item 3107819	NM_002161.6(IARS1):c.3685C>G (p.Leu1229Val)	IARS1 (L1184V +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2178625	NM_002161.6(IARS1):c.3681G>A (p.Leu1227=)	IARS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3107818	NM_002161.6(IARS1):c.3668G>A (p.Arg1223Lys)	IARS1 (R1175K +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 732857	NM_002161.6(IARS1):c.3667A>C (p.Arg1223=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3107817	NM_002161.6(IARS1):c.3662G>A (p.Arg1221Gln)	IARS1 (R1173Q +10 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1928553	NM_002161.6(IARS1):c.3658C>T (p.Leu1220Phe)	IARS1 (L1206F +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 736246	NM_002161.6(IARS1):c.3633G>A (p.Leu1211=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2051145	NM_002161.6(IARS1):c.3612A>G (p.Gly1204=)	IARS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2049147	NM_002161.6(IARS1):c.3578C>T (p.Thr1193Ile)	IARS1 (T1145I +10 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1928205	NM_002161.6(IARS1):c.3571G>A (p.Val1191Met)	IARS1 (V1159M +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1806087	NM_002161.6(IARS1):c.3563T>C (p.Met1188Thr)	IARS1 (M1140T +10 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GUncertain significance
Select item 1926420	NM_002161.6(IARS1):c.3554-3C>T	IARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3041946	NM_002161.6(IARS1):c.3554-9C>G	IARS1	Single nucleotide variant (intron variant)	IARS1-related disorder	GLikely benign
Select item 2020593	NM_002161.6(IARS1):c.3553+1G>A	IARS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1285248	NM_002161.6(IARS1):c.3544A>G (p.Lys1182Glu)	IARS1 (K1137E +9 more)	Single nucleotide variant (missense variant +2 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy +2 more	GBenign
Select item 253318	NM_002161.6(IARS1):c.3521T>A (p.Ile1174Asn)	IARS1 (I1174N +9 more)	Single nucleotide variant (missense variant +2 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	GPathogenic
Select item 758752	NM_002161.6(IARS1):c.3474G>A (p.Ser1158=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1984674	NM_002161.6(IARS1):c.3461_3462del (p.Val1154fs)	IARS1 (V1129fs +7 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 1030526	NM_002161.6(IARS1):c.3457T>C (p.Cys1153Arg)	IARS1 (C1139R +7 more)	Single nucleotide variant (missense variant +2 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy +2 more	GUncertain significance
Select item 2077995	NM_002161.6(IARS1):c.3438T>C (p.Ser1146=)	IARS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3107815	NM_002161.6(IARS1):c.3424A>C (p.Thr1142Pro)	IARS1 (T1101P +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3044753	NM_002161.6(IARS1):c.3410-3T>C	IARS1 (L1143S)	Single nucleotide variant (missense variant +1 more)	IARS1-related disorder	GLikely benign
Select item 3107814	NM_002161.6(IARS1):c.3389C>G (p.Ala1130Gly)	IARS1 (A1130G +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1326103	NM_002161.6(IARS1):c.3377dup (p.Asn1126fs)	IARS1 (N1085fs +6 more)	Duplication (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 3004859	NM_002161.6(IARS1):c.3346A>C (p.Ser1116Arg)	IARS1 (S1088R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2010705	NM_002161.6(IARS1):c.3314G>C (p.Gly1105Ala)	IARS1 (G1064A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1303811	NM_002161.6(IARS1):c.3302A>G (p.Glu1101Gly)	IARS1 (E1060G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 817352	NM_002161.6(IARS1):c.3288del (p.Val1097fs)	IARS1 (V1072fs +6 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1944525	NM_002161.6(IARS1):c.3284-3T>C	IARS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3107813	NM_002161.6(IARS1):c.3266C>T (p.Ala1089Val)	IARS1 (A1057V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107812	NM_002161.6(IARS1):c.3265G>T (p.Ala1089Ser)	IARS1 (A1057S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107811	NM_002161.6(IARS1):c.3236C>T (p.Ala1079Val)	IARS1 (A1047V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2042384	NM_002161.6(IARS1):c.3204A>G (p.Thr1068=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2555590	NM_002161.6(IARS1):c.3190G>A (p.Glu1064Lys)	IARS1 (E1023K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2719984	NM_002161.6(IARS1):c.3180G>A (p.Leu1060=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1987025	NM_002161.6(IARS1):c.3177+15C>G	IARS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2035102	NM_002161.6(IARS1):c.3177+8C>T	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2176335	NM_002161.6(IARS1):c.3159T>C (p.Leu1053=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2470711	NM_002161.6(IARS1):c.3146C>T (p.Ser1049Leu)	IARS1 (S1008L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 445904	NM_002161.6(IARS1):c.3136G>A (p.Val1046Ile)	IARS1 (V1046I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3107808	NM_002161.6(IARS1):c.3119C>T (p.Pro1040Leu)	IARS1 (P1015L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 750436	NM_002161.6(IARS1):c.3105C>T (p.Thr1035=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890668	NM_002161.6(IARS1):c.3091G>C (p.Glu1031Gln)	IARS1 (E1038Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3107807	NM_002161.6(IARS1):c.3079G>A (p.Glu1027Lys)	IARS1 (E1002K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107806	NM_002161.6(IARS1):c.3073G>A (p.Val1025Ile)	IARS1 (V1032I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2017650	NM_002161.6(IARS1):c.3069T>C (p.Asn1023=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2142166	NM_002161.6(IARS1):c.3039T>C (p.Tyr1013=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2432683	NM_002161.6(IARS1):c.3005A>G (p.Asn1002Ser)	IARS1 (N1002S +6 more)	Single nucleotide variant (missense variant +1 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	GUncertain significance
Select item 3001522	NM_002161.6(IARS1):c.3001-14GT[3]	IARS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1987596	NM_002161.6(IARS1):c.3001-17dup	IARS1	Duplication (intron variant)	not provided	GBenign
Select item 1914202	NM_002161.6(IARS1):c.3001-19T>G	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2014480	NM_002161.6(IARS1):c.3000+8T>C	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2544108	NM_002161.6(IARS1):c.2982A>G (p.Ile994Met)	IARS1 (I994M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 253322	NM_002161.6(IARS1):c.2974A>G (p.Asn992Asp)	IARS1 (N992D +6 more)	Single nucleotide variant (missense variant +1 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	GPathogenic
Select item 2005238	NM_002161.6(IARS1):c.2961T>G (p.Ala987=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2875559	NM_002161.6(IARS1):c.2939C>G (p.Ser980Ter)	IARS1 (S948* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1902705	NM_002161.6(IARS1):c.2905-14G>C	IARS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2483855	NM_002161.6(IARS1):c.2896G>T (p.Asp966Tyr)	IARS1 (D941Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1910517	NM_002161.6(IARS1):c.2893T>C (p.Ser965Pro)	IARS1 (S924P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870111	NM_002161.6(IARS1):c.2880A>G (p.Gln960=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2173952	NM_002161.6(IARS1):c.2877G>A (p.Ala959=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069174	NM_002161.6(IARS1):c.2861C>G (p.Ala954Gly)	IARS1 (A926G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072265	NM_002161.6(IARS1):c.2860G>T (p.Ala954Ser)	IARS1 (A926S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3107805	NM_002161.6(IARS1):c.2849C>T (p.Thr950Ile)	IARS1 (T909I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736281	NM_002161.6(IARS1):c.2847C>T (p.Tyr949=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2182891	NM_002161.6(IARS1):c.2841C>T (p.Leu947=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2072635	NM_002161.6(IARS1):c.2837G>A (p.Arg946His)	IARS1 (R918H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2081673	NM_002161.6(IARS1):c.2836C>T (p.Arg946Cys)	IARS1 (R918C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2114455	NM_002161.6(IARS1):c.2832C>T (p.Asp944=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 719347	NM_002161.6(IARS1):c.2823C>T (p.His941=)	IARS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2494391	NM_002161.6(IARS1):c.2822A>G (p.His941Arg)	IARS1 (H900R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107804	NM_002161.6(IARS1):c.2809G>C (p.Gly937Arg)	IARS1 (G896R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1805635	NM_002161.6(IARS1):c.2806G>A (p.Glu936Lys)	IARS1 (E895K +6 more)	Single nucleotide variant (missense variant +1 more)	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy	GUncertain significance

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