ClinVar for MedGen (Select 120522) - ClinVar

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Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2440760	NM_001361.5(DHODH):c.262C>T (p.Arg88Ter)	DHODH (R88*)	Single nucleotide variant (nonsense)	Miller syndrome +1 more	GUncertain significance
Select item 2440759	NM_001361.5(DHODH):c.731G>A (p.Arg244Gln)	DHODH (R244Q)	Single nucleotide variant (missense variant)	Miller syndrome +1 more	GConflicting classifications of pathogenicity
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 1375227	NM_001361.5(DHODH):c.104G>A (p.Arg35His)	DHODH (R35H)	Single nucleotide variant (missense variant)	Miller syndrome +1 more	GUncertain significance
Select item 1301617	NM_001361.5(DHODH):c.952G>T (p.Glu318Ter)	DHODH (E318*)	Single nucleotide variant (nonsense)	Miller syndrome	GLikely pathogenic
Select item 1255481	NM_001361.5(DHODH):c.435-38G>C	DHODH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222191	NM_001361.5(DHODH):c.518-39G>T	DHODH	Single nucleotide variant (intron variant)	Miller syndrome +1 more	GBenign
Select item 1075250	NM_001361.5(DHODH):c.248_261del (p.Leu83fs)	DHODH (L83fs)	Deletion (frameshift variant)	Miller syndrome +1 more	GPathogenic
Select item 887739	NM_001361.5(DHODH):c.*795C>T	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 887738	NM_001361.5(DHODH):c.*645T>C	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
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 887488	NM_001361.5(DHODH):c.606C>T (p.Gly202=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome	GUncertain significance
Select item 886488	NM_001361.5(DHODH):c.*383G>A	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 886487	NM_001361.5(DHODH):c.*372C>T	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 886486	NM_001361.5(DHODH):c.*349A>C	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 886485	NM_001361.5(DHODH):c.*341C>T	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome +1 more	GUncertain significance
Select item 885465	NM_001361.5(DHODH):c.*216G>A	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 885464	NM_001361.5(DHODH):c.*144G>A	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 885463	NM_001361.5(DHODH):c.1048T>G (p.Ser350Ala)	DHODH, LOC126862390 (S350A)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 885404	NM_001361.5(DHODH):c.546G>T (p.Gly182=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome	GUncertain significance
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 885402	NM_001361.5(DHODH):c.505A>C (p.Lys169Gln)	DHODH (K169Q)	Single nucleotide variant (missense variant)	Miller syndrome	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 884596	NM_001361.5(DHODH):c.*936T>C	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 884595	NM_001361.5(DHODH):c.*868A>G	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GLikely benign
Select item 884529	NM_001361.5(DHODH):c.1043G>C (p.Gly348Ala)	DHODH, LOC126862390 (G348A)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 884528	NM_001361.5(DHODH):c.983C>T (p.Pro328Leu)	DHODH, LOC126862390 (P328L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884527	NM_001361.5(DHODH):c.973+11C>T	DHODH	Single nucleotide variant (intron variant)	Miller syndrome	GUncertain significance
Select item 884465	NM_001361.5(DHODH):c.73G>A (p.Ala25Thr)	DHODH (A25T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 769423	NM_001361.5(DHODH):c.1020C>T (p.Asp340=)	DHODH, LOC126862390	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 718632	NM_001361.5(DHODH):c.765C>T (p.Ile255=)	DHODH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 369126	NM_001361.4(DHODH):c.-29A>G	DHODH	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 320462	NM_001361.5(DHODH):c.*1174T>G	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GLikely benign
Select item 320461	NM_001361.5(DHODH):c.*1171T>C	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GBenign
Select item 320460	NM_001361.5(DHODH):c.*1088T>C	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GLikely benign
Select item 320459	NM_001361.5(DHODH):c.*1051A>G	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GBenign
Select item 320458	NM_001361.5(DHODH):c.1035_1038del	DHODH	Deletion (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 320457	NM_001361.5(DHODH):c.*1014C>T	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GBenign
Select item 320456	NM_001361.5(DHODH):c.*980A>G	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 320455	NM_001361.5(DHODH):c.*841G>A	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 320454	NM_001361.5(DHODH):c.*819A>G	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 320453	NM_001361.5(DHODH):c.*783A>G	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome +1 more	GBenign
Select item 320452	NM_001361.5(DHODH):c.*748C>T	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GBenign
Select item 320451	NM_001361.5(DHODH):c.*612T>C	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GBenign
Select item 320450	NM_001361.5(DHODH):c.*595C>T	DHODH	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 320449	NM_001361.5(DHODH):c.*574G>T	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome +1 more	GBenign
Select item 320448	NM_001361.5(DHODH):c.*569G>A	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome +1 more	GBenign
Select item 320447	NM_001361.5(DHODH):c.*500G>A	DHODH	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 320446	NM_001361.5(DHODH):c.*404G>A	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GBenign
Select item 320445	NM_001361.5(DHODH):c.*252C>T	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GLikely benign
Select item 320444	NM_001361.5(DHODH):c.*189C>T	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 320443	NM_001361.5(DHODH):c.*139C>T	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 320442	NM_001361.5(DHODH):c.*64C>G	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GUncertain significance
Select item 320441	NM_001361.5(DHODH):c.*14C>T	DHODH, LOC126862390	Single nucleotide variant (3 prime UTR variant)	Miller syndrome	GLikely benign
Select item 320440	NM_001361.5(DHODH):c.1009A>T (p.Ser337Cys)	LOC126862390, DHODH (S337C)	Single nucleotide variant (missense variant)	Miller syndrome +1 more	GUncertain significance
Select item 320439	NM_001361.5(DHODH):c.959A>G (p.Tyr320Cys)	DHODH (Y320C)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 320438	NM_001361.5(DHODH):c.959A>C (p.Tyr320Ser)	DHODH (Y320S)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 320437	NM_001361.5(DHODH):c.949C>T (p.Arg317Trp)	DHODH (R317W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320436	NM_001361.5(DHODH):c.890G>A (p.Arg297His)	DHODH (R297H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 320435	NM_001361.5(DHODH):c.881G>A (p.Gly294Asp)	DHODH (G294D)	Single nucleotide variant (missense variant)	Miller syndrome +1 more	GUncertain significance
Select item 320434	NM_001361.5(DHODH):c.869C>T (p.Ala290Val)	DHODH (A290V)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 320433	NM_001361.5(DHODH):c.820T>C (p.Leu274=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome	GUncertain significance
Select item 320432	NM_001361.5(DHODH):c.819+10G>A	DHODH	Single nucleotide variant (intron variant)	Miller syndrome +1 more	GBenign/Likely benign
Select item 320431	NM_001361.5(DHODH):c.807T>A (p.Ser269Arg)	DHODH (S269R)	Single nucleotide variant (missense variant)	Miller syndrome	GUncertain significance
Select item 320430	NM_001361.5(DHODH):c.804C>T (p.Ala268=)	DHODH	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320429	NM_001361.5(DHODH):c.753C>A (p.Val251=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome +1 more	GConflicting classifications of pathogenicity
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 320427	NM_001361.5(DHODH):c.681C>T (p.Ala227=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome	GUncertain significance
Select item 320426	NM_001361.5(DHODH):c.666C>G (p.Ser222Arg)	DHODH (S222R)	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 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 320423	NM_001361.5(DHODH):c.517+8G>A	DHODH	Single nucleotide variant (intron variant)	Miller syndrome	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 320421	NM_001361.5(DHODH):c.457C>A (p.Leu153Ile)	DHODH (L153I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 320419	NM_001361.5(DHODH):c.72C>T (p.Phe24=)	DHODH	Single nucleotide variant (synonymous variant)	Miller syndrome +1 more	GBenign/Likely benign
Select item 320418	NM_001361.5(DHODH):c.22-11C>T	DHODH	Single nucleotide variant (intron variant)	Miller syndrome +1 more	GConflicting classifications of pathogenicity
Select item 257968	NM_001361.5(DHODH):c.573G>A (p.Ala191=)	DHODH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 257967	NM_001361.5(DHODH):c.294C>T (p.Asp98=)	DHODH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 128895	NM_001361.5(DHODH):c.19A>C (p.Lys7Gln)	DHODH (K7Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 128894	NM_001361.5(DHODH):c.1022C>T (p.Ala341Val)	DHODH, LOC126862390 (A341V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 16808	NM_001361.5(DHODH):c.595C>T (p.Arg199Cys)	DHODH (R199C)	Single nucleotide variant (missense variant)	Miller syndrome	GPathogenic
Select item 16807	NM_001361.5(DHODH):c.611del (p.Leu204fs)	DHODH (L204fs)	Deletion (frameshift variant)	Miller syndrome	GPathogenic
Select item 16806	NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)	DHODH (R244W)	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 16803	NM_001361.5(DHODH):c.454G>A (p.Gly152Arg)	DHODH (G152R)	Single nucleotide variant (missense variant)	Miller syndrome +1 more	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 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 16800	NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)	DHODH, LOC126862390 (R346W)	Single nucleotide variant (missense variant)	Miller syndrome +1 more	GLikely pathogenic

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Links from MedGen

Items: 92