"GeneDx"[submitter] AND "MVK"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96243	NM_052845.4(MMAB):c.288T>C (p.Ile96=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Hyperimmunoglobulin D with periodic fever +5 more	GBenign/Likely benign
Select item 203817	NM_052845.4(MMAB):c.185C>T (p.Thr62Met)	MMAB, MVK (T62M)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 763309	NM_052845.4(MMAB):c.99G>A (p.Gln33=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 262247	NM_052845.4(MMAB):c.57C>A (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GBenign
Select item 219003	NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)	MMAB, MVK (R19Q)	Indel (missense variant +1 more)	not provided +1 more	GBenign
Select item 262246	NM_052845.4(MMAB):c.56G>A (p.Arg19His)	MMAB, MVK (R19H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 550793	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	MMAB, MVK (C4*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 307082	NM_052845.4(MMAB):c.-4G>C	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 513728	NM_052845.4(MMAB):c.-7C>G	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 307083	NM_052845.4(MMAB):c.-9G>T	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 516274	NM_052845.3(MMAB):c.-30G>T	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	not specified	GLikely benign
Select item 1326625	NC_000012.12:g.109573541T>C	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1219415	NC_000012.12:g.109573563A>G	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1211163	NC_000012.12:g.109573681T>A	MVK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 307086	NM_000431.3(MVK):c.-178A>G	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	Hyperimmunoglobulin D with periodic fever +4 more	GConflicting classifications of pathogenicity
Select item 391960	NM_000431.4(MVK):c.-29C>T	MVK	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 307090	NM_000431.4(MVK):c.-15+11G>A	MVK	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 389976	NM_000431.4(MVK):c.-15+16C>T	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +3 more	GLikely benign
Select item 1278576	NM_000431.4(MVK):c.-15+61G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287574	NM_000431.4(MVK):c.-14-147G>T	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292732	NM_000431.4(MVK):c.-14-104C>G	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669086	NM_000431.4(MVK):c.-14-17T>C	MVK	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 510281	NM_000431.4(MVK):c.-14-8C>T	MVK	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 234376	NM_000431.4(MVK):c.14T>C (p.Val5Ala)	MVK (V5A)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GUncertain significance
Select item 234377	NM_000431.4(MVK):c.32C>T (p.Pro11Leu)	MVK (P11L)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +3 more	GUncertain significance
Select item 1188196	NM_000431.4(MVK):c.78G>A (p.Lys26=)	MVK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 246309	NM_000431.4(MVK):c.78+7_78+10del	MVK	Deletion (intron variant)	not provided +4 more	GLikely benign
Select item 439924	NM_000431.4(MVK):c.78+61A>G	MVK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1224579	NM_000431.4(MVK):c.78+105A>G	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225628	NM_000431.4(MVK):c.78+141G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 97622	NM_000431.4(MVK):c.78+177G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212758	NM_000431.4(MVK):c.78+265A>G	MVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205653	NM_000431.4(MVK):c.79-176G>A	MVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 439921	NM_000431.4(MVK):c.79-164T>G	MVK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 129638	NM_000431.4(MVK):c.155G>A (p.Ser52Asn)	MMAB, MVK (S52N)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 97576	NM_000431.4(MVK):c.185G>A (p.Trp62Ter)	MVK (W62*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1430226	NM_000431.4(MVK):c.197G>A (p.Arg66Lys)	MVK (R66K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 234378	NM_000431.4(MVK):c.226+4A>G	MVK	Single nucleotide variant (intron variant)	Mevalonic aciduria +4 more	GConflicting classifications of pathogenicity
Select item 1246432	NM_000431.4(MVK):c.226+8C>T	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265816	NM_000431.4(MVK):c.226+105C>T	MVK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1229234	NM_000431.4(MVK):c.226+106G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220291	NM_000431.4(MVK):c.226+180A>G	MVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241340	NM_000431.4(MVK):c.227-40C>G	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 234493	NM_000431.4(MVK):c.227-18T>C	MVK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 97578	NM_000431.4(MVK):c.238G>A (p.Val80Ile)	MVK (V80I)	Single nucleotide variant (missense variant)	Hyperimmunoglobulin D with periodic fever +4 more	GConflicting classifications of pathogenicity
Select item 1801199	NM_000431.4(MVK):c.249del (p.Thr84fs)	MVK (T84fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 736383	NM_000431.4(MVK):c.297C>T (p.Asp99=)	MVK	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 97581	NM_000431.4(MVK):c.346T>C (p.Tyr116His)	MVK (Y116H)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 546721	NM_000431.4(MVK):c.349C>T (p.Leu117=)	MVK	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 837299	NM_000431.4(MVK):c.361C>T (p.Arg121Trp)	MVK (R121W)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GUncertain significance
Select item 1214350	NM_000431.4(MVK):c.362G>A (p.Arg121Gln)	MVK (R121Q)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +3 more	GUncertain significance
Select item 256113	NM_000431.4(MVK):c.371+8C>T	MVK	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 307095	NM_000431.4(MVK):c.371+13T>C	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +3 more	GConflicting classifications of pathogenicity
Select item 680656	NM_000431.4(MVK):c.371+313_371+314insCC	MVK	Insertion (intron variant)	not provided	GLikely benign
Select item 680643	NM_000431.4(MVK):c.372-302C>T	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812109	NM_000431.4(MVK):c.380C>T (p.Pro127Leu)	MVK (P127L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 138313	NM_000431.4(MVK):c.381G>A (p.Pro127=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GBenign/Likely benign
Select item 129639	NM_000431.4(MVK):c.405G>A (p.Ser135=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GBenign
Select item 39727	NM_000431.4(MVK):c.417dup (p.Gly140fs)	MVK (G140fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 138314	NM_000431.4(MVK):c.441C>T (p.Ala147=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GConflicting classifications of pathogenicity
Select item 97592	NM_000431.4(MVK):c.442G>A (p.Ala148Thr)	MVK (A148T)	Single nucleotide variant (missense variant +1 more)	Mevalonic aciduria +3 more	GPathogenic
Select item 432821	NM_000431.4(MVK):c.498C>A (p.Asn166Lys)	MVK (N166K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 39725	NM_000431.4(MVK):c.500C>T (p.Pro167Leu)	MVK (P167L)	Single nucleotide variant (missense variant +1 more)	Hyperimmunoglobulin D with periodic fever +3 more	GPathogenic/Likely pathogenic
Select item 129640	NM_000431.4(MVK):c.510C>T (p.Asp170=)	MVK	Single nucleotide variant (synonymous variant +1 more)	Hyperimmunoglobulin D with periodic fever +6 more	GBenign
Select item 546722	NM_000431.4(MVK):c.518G>A (p.Cys173Tyr)	MVK (C173Y)	Single nucleotide variant (missense variant +1 more)	Mevalonic aciduria +3 more	GUncertain significance
Select item 1257442	NM_000431.4(MVK):c.527+53C>T	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228523	NM_000431.4(MVK):c.528-254dup	MVK	Duplication (intron variant)	not provided	GBenign
Select item 1219621	NM_000431.4(MVK):c.528-226C>T	MVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246893	NM_000431.4(MVK):c.528-155G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234326	NM_000431.4(MVK):c.528-138G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203836	NM_000431.4(MVK):c.528-100A>G	MVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271588	NM_000431.4(MVK):c.528-18G>A	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +3 more	GBenign/Likely benign
Select item 97597	NM_000431.4(MVK):c.564G>A (p.Trp188Ter)	MVK (W188* +1 more)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +4 more	GPathogenic
Select item 1016754	NM_000431.4(MVK):c.565G>T (p.Ala189Ser)	MVK (A137S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 97599	NM_000431.4(MVK):c.591C>T (p.His197=)	MVK	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 39726	NM_000431.4(MVK):c.604G>A (p.Gly202Arg)	MVK (G202R +1 more)	Single nucleotide variant (missense variant)	Mevalonic aciduria +3 more	GPathogenic/Likely pathogenic
Select item 97601	NM_000431.4(MVK):c.608T>C (p.Val203Ala)	MVK (V203A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 97603	NM_000431.4(MVK):c.613A>G (p.Asn205Asp)	MVK (N205D +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GPathogenic/Likely pathogenic
Select item 515729	NM_000431.4(MVK):c.618T>A (p.Ala206=)	MVK	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 246131	NM_000431.4(MVK):c.624C>T (p.Ser208=)	MVK	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 234379	NM_000431.4(MVK):c.643C>T (p.Arg215Ter)	MVK (R215* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1274650	NM_000431.4(MVK):c.677+103T>C	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273144	NM_000431.4(MVK):c.678-243A>G	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236278	NM_000431.4(MVK):c.678-38T>C	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221395	NM_000431.4(MVK):c.678-7C>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388141	NM_000431.4(MVK):c.700C>T (p.Leu234=)	MVK	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 97612	NM_000431.4(MVK):c.709A>T (p.Thr237Ser)	MVK (T237S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1204237	NM_000431.4(MVK):c.718C>T (p.Pro240Ser)	MVK (P188S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1258465	NM_000431.4(MVK):c.768+12T>G	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260199	NM_000431.4(MVK):c.768+24C>T	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218712	NM_000431.4(MVK):c.768+86G>C	MVK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249728	NM_000431.4(MVK):c.768+101T>G	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271630	NM_000431.4(MVK):c.768+117C>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291362	NM_000431.4(MVK):c.768+182T>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258227	NM_000431.4(MVK):c.769-181G>A	MVK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439922	NM_000431.4(MVK):c.769-38C>T	MVK	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 97620	NM_000431.4(MVK):c.769-7T>G	MVK	Single nucleotide variant (intron variant)	Hyperimmunoglobulin D with periodic fever +5 more	GBenign/Likely benign
Select item 307099	NM_000431.4(MVK):c.780C>A (p.Ile260=)	MVK	Single nucleotide variant (synonymous variant)	Hyperimmunoglobulin D with periodic fever +4 more	GBenign/Likely benign
Select item 450567	NM_000431.4(MVK):c.785C>T (p.Ala262Val)	MVK (A262V +1 more)	Single nucleotide variant (missense variant)	Porokeratosis 3, disseminated superficial actinic type +4 more	GUncertain significance
Select item 1143237	NM_000431.4(MVK):c.789C>A (p.Pro263=)	MVK	Single nucleotide variant (synonymous variant)	Mevalonic aciduria +3 more	GBenign/Likely benign

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