20609[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	ACTB, AIMP2 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	See cases	GPathogenic
Select item 146565	GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1	ACTB, AIMP2 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 1696458	Single allele	AIMP2, CCZ1 +14 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 151061	GRCh38/hg38 7p22.1(chr7:5905831-6014161)x3	AIMP2, CCZ1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 1342395	NC_000007.14:g.5986941_6669974dup	AIMP2, ANKRD61 +57 more	Duplication	not provided	GUncertain significance
Select item 182813	NM_000535.6(PMS2):c.-33C>T	AIMP2, PMS2	Single nucleotide variant (non-coding transcript variant)	not specified	GBenign/Likely benign
Select item 3256189	NM_006303.4(AIMP2):c.-307dupT	AIMP2, PMS2	Duplication (non-coding transcript variant)	not specified	GLikely benign
Select item 3256190	NM_006303.4(AIMP2):c.-298G>C	AIMP2, PMS2	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 91284	NM_000535.5(PMS2):c.-323G>T	AIMP2, PMS2	Single nucleotide variant (5 prime UTR variant)	Lynch syndrome	GBenign
Select item 444713	NM_006303.4(AIMP2):c.16G>C (p.Val6Leu)	AIMP2 (V6L)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1686399	NM_006303.4(AIMP2):c.31G>C (p.Gly11Arg)	AIMP2 (G11R)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 1987935	NM_006303.4(AIMP2):c.43C>G (p.Pro15Ala)	AIMP2 (P15A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2185580	NM_006303.4(AIMP2):c.46C>T (p.Leu16Phe)	AIMP2 (L16F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2181107	NM_006303.4(AIMP2):c.50G>A (p.Arg17His)	AIMP2 (R17H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1599860	NM_006303.4(AIMP2):c.57G>A (p.Glu19=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2047946	NM_006303.4(AIMP2):c.61C>T (p.Pro21Ser)	AIMP2 (P21S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1632435	NM_006303.4(AIMP2):c.63C>T (p.Pro21=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1571764	NM_006303.4(AIMP2):c.69C>T (p.Cys23=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 985778	NM_006303.4(AIMP2):c.72_73del (p.Met24fs)	AIMP2 (M24fs)	Deletion (frameshift variant +2 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 982311	NM_006303.4(AIMP2):c.74A>G (p.Tyr25Cys)	AIMP2 (Y25C)	Single nucleotide variant (missense variant +2 more)	Leukodystrophy, hypomyelinating, 17	GLikely pathogenic
Select item 984997	NM_006303.4(AIMP2):c.75C>A (p.Tyr25Ter)	AIMP2 (Y25*)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GPathogenic
Select item 1569889	NM_006303.4(AIMP2):c.81C>T (p.Leu27=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2181532	NM_006303.4(AIMP2):c.83C>G (p.Pro28Arg)	AIMP2 (P28R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 986029	NM_006303.4(AIMP2):c.87C>G (p.Asn29Lys)	AIMP2 (N29K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1559813	NM_006303.4(AIMP2):c.93C>T (p.His31=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1408441	NM_006303.4(AIMP2):c.93C>A (p.His31Gln)	AIMP2 (H31Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1701518	NM_006303.4(AIMP2):c.94G>T (p.Gly32Cys)	AIMP2 (G32C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2184381	NM_006303.4(AIMP2):c.98G>A (p.Arg33Lys)	AIMP2 (R33K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3102922	NM_006303.4(AIMP2):c.101G>C (p.Ser34Thr)	AIMP2 (S34T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2230151	NM_006303.4(AIMP2):c.101G>A (p.Ser34Asn)	AIMP2 (S34N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 428589	NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter)	AIMP2 (Y35*)	Single nucleotide variant (nonsense +2 more)	Leukodystrophy, hypomyelinating, 17	GLikely pathogenic
Select item 1601061	NM_006303.4(AIMP2):c.109C>G (p.Pro37Ala)	AIMP2 (P37A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2892572	NM_006303.4(AIMP2):c.114G>T (p.Ala38=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2891822	NM_006303.4(AIMP2):c.117G>A (p.Pro39=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2657294	NM_006303.4(AIMP2):c.117G>C (p.Pro39=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1448488	NM_006303.4(AIMP2):c.119G>C (p.Gly40Ala)	AIMP2, LOC129997917 (G40A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3250888	NM_006303.4(AIMP2):c.120C>T (p.Gly40=)	AIMP2, LOC129997917	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3037163	NM_006303.4(AIMP2):c.126C>G (p.Gly42=)	AIMP2, LOC129997917	Single nucleotide variant (synonymous variant +2 more)	AIMP2-related disorder	GLikely benign
Select item 2184670	NM_006303.4(AIMP2):c.127C>T (p.His43Tyr)	AIMP2, LOC129997917 (H43Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2278801	NM_006303.4(AIMP2):c.129C>A (p.His43Gln)	AIMP2, LOC129997917 (H43Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2664220	NM_006303.4(AIMP2):c.135G>A (p.Gln45=)	AIMP2, LOC129997917	Single nucleotide variant (synonymous variant +2 more)	Leukodystrophy, hypomyelinating, 17	GUncertain significance
Select item 2179535	NM_006303.4(AIMP2):c.135+14dup	AIMP2, LOC129997917	Duplication (intron variant)	not provided	GBenign
Select item 2891067	NM_006303.4(AIMP2):c.135+11G>T	AIMP2, LOC129997917	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1555063	NM_006303.4(AIMP2):c.135+12G>A	AIMP2, LOC129997917	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2416898	NM_006303.4(AIMP2):c.135+13G>C	AIMP2, LOC129997917	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2179917	NM_006303.4(AIMP2):c.135+14G>C	AIMP2, LOC129997917	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1571399	NM_006303.4(AIMP2):c.135+19_135+20dup	AIMP2, LOC129997917	Duplication (intron variant)	not provided	GLikely benign
Select item 1166590	NM_006303.4(AIMP2):c.135+20dup	AIMP2, LOC129997917	Duplication (intron variant)	not provided	GBenign
Select item 91282	NM_000535.5(PMS2):c.-2146C>A	AIMP2, PMS2 (R12S)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91283	NM_000535.5(PMS2):c.-2559T>A	AIMP2, PMS2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 1543476	NM_006303.4(AIMP2):c.136-10G>C	AIMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1384135	NM_006303.4(AIMP2):c.136G>A (p.Glu46Lys)	AIMP2 (E17K +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2420547	NM_006303.4(AIMP2):c.155T>C (p.Leu52Pro)	AIMP2 (L12P +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2131572	NM_006303.4(AIMP2):c.156G>A (p.Leu52=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2191051	NM_006303.4(AIMP2):c.172C>T (p.Arg58Cys)	AIMP2 (R58C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1398436	NM_006303.4(AIMP2):c.173G>A (p.Arg58His)	AIMP2 (R18H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1468614	NM_006303.4(AIMP2):c.193C>T (p.Arg65Cys)	AIMP2 (R25C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 709086	NM_006303.4(AIMP2):c.213T>A (p.Ala71=)	AIMP2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 986028	NM_006303.4(AIMP2):c.226C>T (p.Leu76Phe)	AIMP2 (L32F +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229514	NM_006303.4(AIMP2):c.256G>A (p.Asp86Asn)	AIMP2 (D46N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 711474	NM_006303.4(AIMP2):c.270C>T (p.Thr90=)	AIMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2406882	NM_006303.4(AIMP2):c.271A>G (p.Asn91Asp)	AIMP2 (N47D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2000762	NM_006303.4(AIMP2):c.277A>T (p.Ile93Phe)	AIMP2 (I64F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1937247	NM_006303.4(AIMP2):c.284C>T (p.Ala95Val)	AIMP2 (A51V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925072	NM_006303.4(AIMP2):c.286G>T (p.Asp96Tyr)	AIMP2 (D18Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2059281	NM_006303.4(AIMP2):c.312T>C (p.Asn104=)	AIMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3341735	NM_006303.4(AIMP2):c.315G>A (p.Ala105=)	AIMP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1422968	NM_006303.4(AIMP2):c.319G>T (p.Asp107Tyr)	AIMP2 (D78Y +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1168237	NM_006303.4(AIMP2):c.342+4G>A	AIMP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1954432	NM_006303.4(AIMP2):c.351G>A (p.Gly117=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053015	NM_006303.4(AIMP2):c.358A>C (p.Lys120Gln)	AIMP2 (K120Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2282321	NM_006303.4(AIMP2):c.365T>C (p.Ile122Thr)	AIMP2 (I82T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381896	NM_006303.4(AIMP2):c.375C>A (p.Asn125Lys)	AIMP2 (N125K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080225	NM_006303.4(AIMP2):c.375C>T (p.Asn125=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183835	NM_006303.4(AIMP2):c.383C>T (p.Pro128Leu)	AIMP2 (P128L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1380790	NM_006303.4(AIMP2):c.398del (p.Leu133fs)	AIMP2 (L55fs +5 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2189420	NM_006303.4(AIMP2):c.401C>T (p.Ser134Phe)	AIMP2 (S56F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583152	NM_006303.4(AIMP2):c.402C>T (p.Ser134=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613245	NM_006303.4(AIMP2):c.419G>A (p.Arg140Lys)	AIMP2 (R71K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942942	NM_006303.4(AIMP2):c.420G>A (p.Arg140=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200998	NM_006303.4(AIMP2):c.442G>A (p.Val148Ile)	AIMP2 (V79I +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2008831	NM_006303.4(AIMP2):c.447G>A (p.Leu149=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368366	NM_006303.4(AIMP2):c.453G>A (p.Thr151=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2100996	NM_006303.4(AIMP2):c.459C>T (p.His153=)	AIMP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1448064	NM_006303.4(AIMP2):c.461C>T (p.Thr154Met)	AIMP2 (T114M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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