55699[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 161040	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 34890	GRCh38/hg38 1q41(chr1:215206760-222004068)x1	BPNT1, C1orf115 +138 more	Copy number loss	See cases	GPathogenic
Select item 58129	GRCh38/hg38 1q41(chr1:215447347-221971832)x3	BPNT1, C1orf115 +135 more	Copy number gain	See cases	GPathogenic
Select item 438260	Single allele	BPNT1, C1orf115 +146 more	Deletion	Usher syndrome	GLikely pathogenic
Select item 1270266	NC_000001.11:g.220093907_220093909del	IARS2	Deletion	not provided	GBenign
Select item 1226995	NC_000001.11:g.220093909del	IARS2	Deletion	not provided	GBenign
Select item 1222684	NC_000001.11:g.220093908_220093909del	IARS2	Deletion	not provided	GBenign
Select item 1211501	NC_000001.11:g.220093906A>T	IARS2	Single nucleotide variant	not provided	GLikely benign
Select item 1193085	NC_000001.11:g.220093907_220093911del	IARS2	Deletion	not provided	GLikely benign
Select item 1229051	NC_000001.11:g.220093908_220093911del	IARS2	Deletion	not provided	GBenign
Select item 1710879	NC_000001.11:g.220093909_220093910insATATA	IARS2	Insertion	not provided	GLikely benign
Select item 1293922	NC_000001.11:g.220093909_220093911del	IARS2	Deletion	not provided	GBenign
Select item 1282632	NC_000001.11:g.220093908A>T	IARS2	Single nucleotide variant	not provided	GBenign
Select item 1216087	NC_000001.11:g.220093909AT[8]	IARS2	Microsatellite	not provided	GLikely benign
Select item 1258744	NC_000001.11:g.220093910_220093912del	IARS2	Deletion	not provided	GBenign
Select item 1222789	NC_000001.11:g.220093910del	IARS2	Deletion	not provided	GBenign
Select item 1186131	NC_000001.11:g.220093912T>A	IARS2	Single nucleotide variant	not provided	GLikely benign
Select item 1179736	NC_000001.11:g.220093912del	IARS2	Deletion	not provided	GBenign
Select item 676451	NM_018060.3(IARS2):c.-128T>A	IARS2, LOC129932529	Single nucleotide variant	not provided	GLikely benign
Select item 513094	NM_018060.4(IARS2):c.-35G>T	IARS2, LOC129932529	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3252888	NM_018060.4(IARS2):c.1A>C (p.Met1Leu)	IARS2, LOC129932529 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3015438	NM_018060.4(IARS2):c.6T>C (p.Arg2=)	IARS2, LOC129932529	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471501	NM_018060.4(IARS2):c.16C>T (p.Arg6Cys)	IARS2, LOC129932529 (R6C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3001421	NM_018060.4(IARS2):c.18C>T (p.Arg6=)	IARS2, LOC129932529	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380570	NM_018060.4(IARS2):c.23G>T (p.Arg8Leu)	IARS2, LOC129932529 (R8L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2420126	NM_018060.4(IARS2):c.25G>A (p.Gly9Arg)	LOC129932529, IARS2 (G9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375373	NM_018060.4(IARS2):c.30G>A (p.Pro10=)	IARS2, LOC129932529	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112205	NM_018060.4(IARS2):c.32G>T (p.Gly11Val)	IARS2, LOC129932529 (G11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2160593	NM_018060.4(IARS2):c.33C>T (p.Gly11=)	IARS2, LOC129932529	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381429	NM_018060.4(IARS2):c.41C>T (p.Ala14Val)	IARS2, LOC129932529 (A14V)	Single nucleotide variant (missense variant)	IARS2-related disorder +2 more	GBenign
Select item 1405840	NM_018060.4(IARS2):c.55C>G (p.Arg19Gly)	IARS2, LOC129932529 (R19G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 488929	NM_018060.4(IARS2):c.55C>T (p.Arg19Ter)	IARS2, LOC129932529 (R19*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1515372	NM_018060.4(IARS2):c.68G>A (p.Gly23Glu)	IARS2, LOC129932529 (G23E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1800852	NM_018060.4(IARS2):c.74C>T (p.Pro25Leu)	IARS2, LOC129932529 (P25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656007	NM_018060.4(IARS2):c.78C>T (p.Arg26=)	IARS2, LOC129932529	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358456	NM_018060.4(IARS2):c.79C>T (p.Leu27Phe)	IARS2, LOC129932529 (L27F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2025494	NM_018060.4(IARS2):c.85T>C (p.Cys29Arg)	IARS2, LOC129932529 (C29R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1549225	NM_018060.4(IARS2):c.93G>C (p.Pro31=)	IARS2, LOC129932529	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020298	NM_018060.4(IARS2):c.101A>G (p.Gln34Arg)	IARS2, LOC129932529 (Q34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381167	NM_018060.4(IARS2):c.111G>C (p.Thr37=)	LOC129932529, IARS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 769551	NM_018060.4(IARS2):c.137C>T (p.Ser46Phe)	IARS2 (S46F)	Single nucleotide variant (missense variant)	IARS2-related disorder +1 more	GBenign/Likely benign
Select item 2006074	NM_018060.4(IARS2):c.142G>C (p.Ala48Pro)	IARS2 (A48P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490074	NM_018060.4(IARS2):c.153C>G (p.His51Gln)	IARS2 (H51Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1928060	NM_018060.4(IARS2):c.157C>T (p.Pro53Ser)	IARS2 (P53S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3107833	NM_018060.4(IARS2):c.161A>T (p.Asn54Ile)	IARS2 (N54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253074	NM_018060.4(IARS2):c.208A>G (p.Ser70Gly)	IARS2 (S70G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187424	NM_018060.4(IARS2):c.221A>G (p.Lys74Arg)	IARS2 (K74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2876625	NM_018060.4(IARS2):c.222G>A (p.Lys74=)	IARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2125495	NM_018060.4(IARS2):c.225G>A (p.Leu75=)	IARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 513489	NM_018060.4(IARS2):c.225G>T (p.Leu75=)	IARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713449	NM_018060.4(IARS2):c.228G>C (p.Leu76=)	IARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1371228	NM_018060.4(IARS2):c.267+2T>A	IARS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 389202	NM_018060.4(IARS2):c.267+5G>C	IARS2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 383632	NM_018060.4(IARS2):c.267+8C>A	IARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 740240	NM_018060.4(IARS2):c.267+10C>G	IARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1641265	NM_018060.4(IARS2):c.267+14C>G	IARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639900	NM_018060.4(IARS2):c.268-8dup	IARS2	Duplication (intron variant)	not provided	GBenign
Select item 1925426	NM_018060.4(IARS2):c.268-9_268-8del	IARS2	Deletion (intron variant)	not provided	GBenign
Select item 1908239	NM_018060.4(IARS2):c.268-12_268-8del	IARS2	Deletion (intron variant)	not provided	GUncertain significance
Select item 1556751	NM_018060.4(IARS2):c.268-8del	IARS2	Deletion (intron variant)	not provided +1 more	GBenign
Select item 764406	NM_018060.4(IARS2):c.268-8T>A	IARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559203	NM_018060.4(IARS2):c.268-4del	IARS2	Deletion (intron variant)	not provided	GBenign
Select item 380023	NM_018060.4(IARS2):c.268-7A>T	IARS2	Single nucleotide variant (intron variant)	IARS2-related disorder +2 more	GBenign
Select item 1997098	NM_018060.4(IARS2):c.275G>A (p.Gly92Glu)	IARS2 (G92E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3285149	NM_018060.4(IARS2):c.283G>C (p.Glu95Gln)	IARS2 (E95Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1353205	NM_018060.4(IARS2):c.286C>G (p.Leu96Val)	IARS2 (L96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925086	NM_018060.4(IARS2):c.288_289del (p.Tyr97fs)	IARS2 (Y97fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 515886	NM_018060.4(IARS2):c.300A>G (p.Gln100=)	IARS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2158656	NM_018060.4(IARS2):c.314_318del (p.Val105fs)	IARS2 (V105fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2737464	NM_018060.4(IARS2):c.324A>G (p.Glu108=)	IARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1468343	NM_018060.4(IARS2):c.351T>G (p.Tyr117Ter)	IARS2 (Y117*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2443457	NM_018060.4(IARS2):c.353C>T (p.Ala118Val)	IARS2 (A118V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994367	NM_018060.4(IARS2):c.372T>A (p.Val124=)	IARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2022781	NM_018060.4(IARS2):c.390G>A (p.Lys130=)	IARS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 382420	NM_018060.4(IARS2):c.390+7A>G	IARS2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 386616	NM_018060.4(IARS2):c.390+10A>G	IARS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2028596	NM_018060.4(IARS2):c.390+14A>G	IARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680665	NM_018060.4(IARS2):c.390+232C>T	IARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680610	NM_018060.4(IARS2):c.391-268T>G	IARS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218058	NM_018060.4(IARS2):c.391-113G>T	IARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609352	NM_018060.4(IARS2):c.391-5T>C	IARS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1468323	NM_018060.4(IARS2):c.406G>A (p.Ala136Thr)	IARS2 (A136T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431229	NM_018060.4(IARS2):c.417C>G (p.Phe139Leu)	IARS2 (F139L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831739	NM_018060.4(IARS2):c.419del (p.His140fs)	IARS2 (H140fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1932614	NM_018060.4(IARS2):c.435C>T (p.Ser145=)	IARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 507136	NM_018060.4(IARS2):c.453C>T (p.Pro151=)	IARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2639907	NM_018060.4(IARS2):c.454G>A (p.Gly152Ser)	IARS2 (G152S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434474	NM_018060.4(IARS2):c.479T>C (p.Ile160Thr)	IARS2 (I160T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2285724	NM_018060.4(IARS2):c.490G>A (p.Val164Ile)	IARS2 (V164I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 383514	NM_018060.4(IARS2):c.492A>G (p.Val164=)	IARS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1362997	NM_018060.4(IARS2):c.515C>G (p.Ala172Gly)	IARS2 (A172G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1376981	NM_018060.4(IARS2):c.526T>G (p.Ser176Ala)	IARS2 (S176A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2081309	NM_018060.4(IARS2):c.527C>T (p.Ser176Leu)	IARS2 (S176L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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