1723[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	LOC126862439, LOC126862440 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 1250989	NC_000016.10:g.72008529T>C	DHODH	Single nucleotide variant	not provided	GBenign
Select item 1250402	NC_000016.10:g.72008534C>T	DHODH	Single nucleotide variant	not provided	GBenign
Select item 1231356	NC_000016.10:g.72008543T>C	DHODH	Single nucleotide variant	not provided	GBenign
Select item 369126	NM_001361.4(DHODH):c.-29A>G	DHODH	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 3050686	NM_001361.5(DHODH):c.6G>A (p.Ala2=)	DHODH	Single nucleotide variant (synonymous variant)	DHODH-related disorder	GLikely benign
Select item 887617	NM_001361.5(DHODH):c.14A>G (p.His5Arg)	DHODH (H5R)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 128895	NM_001361.5(DHODH):c.19A>C (p.Lys7Gln)	DHODH (K7Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1229459	NM_001361.5(DHODH):c.21+141T>G	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242015	NM_001361.5(DHODH):c.21+276G>A	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 320418	NM_001361.5(DHODH):c.22-11C>T	DHODH	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1400640	NM_001361.5(DHODH):c.26G>A (p.Arg9Gln)	DHODH (R9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16802	NM_001361.5(DHODH):c.56G>A (p.Gly19Glu)	DHODH (G19E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884464	NM_001361.5(DHODH):c.72C>G (p.Phe24Leu)	DHODH (F24L)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 320419	NM_001361.5(DHODH):c.72C>T (p.Phe24=)	DHODH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 884465	NM_001361.5(DHODH):c.73G>A (p.Ala25Thr)	DHODH (A25T)	Single nucleotide variant (missense variant)	Miller syndrome +2 more	GConflicting classifications of pathogenicity
Select item 713428	NM_001361.5(DHODH):c.90C>A (p.Ala30=)	DHODH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3055724	NM_001361.5(DHODH):c.93G>C (p.Thr31=)	DHODH	Single nucleotide variant (synonymous variant)	DHODH-related disorder	GLikely benign
Select item 2585293	NM_001361.5(DHODH):c.95G>T (p.Gly32Val)	DHODH (G32V)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 1375227	NM_001361.5(DHODH):c.104G>A (p.Arg35His)	DHODH (R35H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2633586	NM_001361.5(DHODH):c.107del (p.Phe36fs)	DHODH (F36fs)	Deletion (frameshift variant)	DHODH-related disorder	GUncertain significance
Select item 2056660	NM_001361.5(DHODH):c.140G>A (p.Gly47Glu)	DHODH (G47E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 789337	NM_001361.5(DHODH):c.153G>A (p.Pro51=)	DHODH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 320420	NM_001361.5(DHODH):c.154G>C (p.Glu52Gln)	DHODH (E52Q)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 3082024	NM_001361.5(DHODH):c.178C>G (p.Arg60Gly)	DHODH (R60G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356412	NM_001361.5(DHODH):c.179G>A (p.Arg60His)	DHODH (R60H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2118803	NM_001361.5(DHODH):c.188C>T (p.Ser63Phe)	DHODH (S63F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065326	NM_001361.5(DHODH):c.205C>T (p.Arg69Trp)	DHODH (R69W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1186659	NM_001361.5(DHODH):c.234+40G>A	DHODH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290824	NM_001361.5(DHODH):c.234+50G>T	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264429	NM_001361.5(DHODH):c.234+107C>G	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289542	NM_001361.5(DHODH):c.234+144T>G	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295427	NM_001361.5(DHODH):c.235-292G>T	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269609	NM_001361.5(DHODH):c.235-40T>C	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1075250	NM_001361.5(DHODH):c.248_261del (p.Leu83fs)	DHODH (L83fs)	Deletion (frameshift variant)	Miller syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2440760	NM_001361.5(DHODH):c.262C>T (p.Arg88Ter)	DHODH (R88*)	Single nucleotide variant (nonsense)	Miller syndrome	GUncertain significance
Select item 3082025	NM_001361.5(DHODH):c.263G>C (p.Arg88Pro)	DHODH (R88P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 257967	NM_001361.5(DHODH):c.294C>T (p.Asp98=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome +2 more	GBenign/Likely benign
Select item 2174377	NM_001361.5(DHODH):c.300T>A (p.His100Gln)	DHODH (H100Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940621	NM_001361.5(DHODH):c.315C>T (p.Asp105=)	DHODH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934758	NM_001361.5(DHODH):c.316G>A (p.Gly106Arg)	DHODH (G106R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101562	NM_001361.5(DHODH):c.355A>G (p.Ser119Gly)	DHODH (S119G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787787	NM_001361.5(DHODH):c.379G>A (p.Gly127Arg)	DHODH (G127R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 16801	NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	DHODH (R135C)	Single nucleotide variant (missense variant)	Miller syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1707231	NM_001361.5(DHODH):c.434+25G>A	DHODH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244647	NM_001361.5(DHODH):c.434+61A>G	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255481	NM_001361.5(DHODH):c.435-38G>C	DHODH	Single nucleotide variant (intron variant)	Miller syndrome +1 more	GBenign
Select item 2967739	NM_001361.5(DHODH):c.435-20C>T	DHODH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599352	NM_001361.5(DHODH):c.435-19G>A	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 796848	NM_001361.5(DHODH):c.453C>T (p.His151=)	DHODH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 16803	NM_001361.5(DHODH):c.454G>A (p.Gly152Arg)	DHODH (G152R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 320421	NM_001361.5(DHODH):c.457C>A (p.Leu153Ile)	DHODH (L153I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2221732	NM_001361.5(DHODH):c.481C>T (p.Arg161Trp)	DHODH (R161W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 320422	NM_001361.5(DHODH):c.492G>T (p.Gln164His)	DHODH (Q164H)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 2792143	NM_001361.5(DHODH):c.494A>T (p.Gln165Leu)	DHODH (Q165L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 885401	NM_001361.5(DHODH):c.498G>A (p.Lys166=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome	GUncertain significance
Select item 885402	NM_001361.5(DHODH):c.505A>C (p.Lys169Gln)	DHODH (K169Q)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 320423	NM_001361.5(DHODH):c.517+8G>A	DHODH	Single nucleotide variant (intron variant)	Miller syndrome	GUncertain significance
Select item 1222191	NM_001361.5(DHODH):c.518-39G>T	DHODH	Single nucleotide variant (intron variant)	Miller syndrome +1 more	GBenign
Select item 885403	NM_001361.5(DHODH):c.518-11G>A	DHODH	Single nucleotide variant (intron variant)	Miller syndrome +1 more	GConflicting classifications of pathogenicity
Select item 733670	NM_001361.5(DHODH):c.541T>C (p.Leu181=)	DHODH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 885404	NM_001361.5(DHODH):c.546G>T (p.Gly182=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome	GUncertain significance
Select item 3082026	NM_001361.5(DHODH):c.566A>G (p.Asp189Gly)	DHODH (D189G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2889840	NM_001361.5(DHODH):c.567C>T (p.Asp189=)	DHODH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 320424	NM_001361.5(DHODH):c.570C>T (p.Ala190=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2402956	NM_001361.5(DHODH):c.571G>A (p.Ala191Thr)	DHODH (A191T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 257968	NM_001361.5(DHODH):c.573G>A (p.Ala191=)	DHODH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2831703	NM_001361.5(DHODH):c.574G>T (p.Glu192Ter)	DHODH (E192*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2711756	NM_001361.5(DHODH):c.582C>T (p.Tyr194=)	DHODH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895262	NM_001361.5(DHODH):c.583G>A (p.Ala195Thr)	DHODH (A195T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2628465	NM_001361.5(DHODH):c.590G>T (p.Gly197Val)	DHODH (G197V)	Single nucleotide variant (missense variant)	DHODH-related disorder	GUncertain significance
Select item 16808	NM_001361.5(DHODH):c.595C>T (p.Arg199Cys)	DHODH (R199C)	Single nucleotide variant (missense variant)	Miller syndrome	GPathogenic
Select item 16805	NM_001361.5(DHODH):c.605G>A (p.Gly202Asp)	DHODH (G202D)	Single nucleotide variant (missense variant)	Miller syndrome	GPathogenic
Select item 16804	NM_001361.5(DHODH):c.605G>C (p.Gly202Ala)	DHODH (G202A)	Single nucleotide variant (missense variant)	Miller syndrome	GPathogenic
Select item 887488	NM_001361.5(DHODH):c.606C>T (p.Gly202=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome	GUncertain significance
Select item 16807	NM_001361.5(DHODH):c.611del (p.Leu204fs)	DHODH (L204fs)	Deletion (frameshift variant)	Miller syndrome	GPathogenic
Select item 1802208	NM_001361.5(DHODH):c.616G>A (p.Asp206Asn)	DHODH (D206N)	Single nucleotide variant (missense variant)	Miller syndrome +1 more	GUncertain significance
Select item 320425	NM_001361.5(DHODH):c.655G>A (p.Gly219Arg)	DHODH (G219R)	Single nucleotide variant (missense variant)	Miller syndrome +2 more	GUncertain significance
Select item 320426	NM_001361.5(DHODH):c.666C>G (p.Ser222Arg)	DHODH (S222R)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 320427	NM_001361.5(DHODH):c.681C>T (p.Ala227=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome	GUncertain significance
Select item 320428	NM_001361.5(DHODH):c.682G>A (p.Glu228Lys)	DHODH (E228K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1242682	NM_001361.5(DHODH):c.705+126C>A	DHODH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262000	NM_001361.5(DHODH):c.706-250del	DHODH	Deletion (intron variant)	not provided	GBenign
Select item 1528049	NM_001361.5(DHODH):c.706-7G>A	DHODH	Single nucleotide variant (intron variant)	DHODH-related disorder +1 more	GLikely benign
Select item 16806	NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)	DHODH (R244W)	Single nucleotide variant (missense variant)	Miller syndrome	GPathogenic
Select item 2440759	NM_001361.5(DHODH):c.731G>A (p.Arg244Gln)	DHODH (R244Q)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 3082027	NM_001361.5(DHODH):c.740A>G (p.His247Arg)	DHODH (H247R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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