ClinVar for MedGen (Select 332940) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441655	NM_005857.5(ZMPSTE24):c.1133_1137del (p.Gly377_Phe378insTer)	ZMPSTE24	Deletion (nonsense)	Mandibuloacral dysplasia with type B lipodystrophy	GPathogenic
Select item 1514530	NM_005857.5(ZMPSTE24):c.260C>T (p.Thr87Ile)	ZMPSTE24 (T87I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1386345	NM_005857.5(ZMPSTE24):c.1416G>T (p.Met472Ile)	ZMPSTE24 (M472I)	Single nucleotide variant (missense variant)	Mandibuloacral dysplasia with type B lipodystrophy +2 more	GUncertain significance
Select item 877069	NM_005857.5(ZMPSTE24):c.*1240A>G	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GLikely benign
Select item 877016	NM_005857.5(ZMPSTE24):c.*248G>A	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Mandibuloacral dysplasia with type B lipodystrophy +1 more	GUncertain significance
Select item 876968	NM_005857.5(ZMPSTE24):c.467A>G (p.Asn156Ser)	ZMPSTE24 (N156S)	Single nucleotide variant (missense variant)	Mandibuloacral dysplasia with type B lipodystrophy +1 more	GUncertain significance
Select item 876120	NM_005857.5(ZMPSTE24):c.*1042G>A	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 876119	NM_005857.5(ZMPSTE24):c.*909G>A	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 876118	NM_005857.5(ZMPSTE24):c.*800T>C	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 876058	NM_005857.5(ZMPSTE24):c.*38T>C	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Mandibuloacral dysplasia with type B lipodystrophy +1 more	GUncertain significance
Select item 876057	NM_005857.5(ZMPSTE24):c.1277G>A (p.Gly426Glu)	ZMPSTE24 (G426E)	Single nucleotide variant (missense variant)	Mandibuloacral dysplasia with type B lipodystrophy +1 more	GUncertain significance
Select item 876056	NM_005857.5(ZMPSTE24):c.1259C>G (p.Ala420Gly)	ZMPSTE24 (A420G)	Single nucleotide variant (missense variant)	Lethal tight skin contracture syndrome +2 more	GUncertain significance
Select item 875987	NM_005857.5(ZMPSTE24):c.52C>T (p.Arg18Cys)	LOC129930253, ZMPSTE24 (R18C)	Single nucleotide variant (missense variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 875156	NM_005857.5(ZMPSTE24):c.*733A>G	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GLikely benign
Select item 875155	NM_005857.5(ZMPSTE24):c.*710T>C	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 875107	NM_005857.5(ZMPSTE24):c.1028G>A (p.Gly343Glu)	ZMPSTE24 (G343E)	Single nucleotide variant (missense variant)	Lethal tight skin contracture syndrome +2 more	GUncertain significance
Select item 874277	NM_005857.5(ZMPSTE24):c.*1503G>A	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 874276	NM_005857.5(ZMPSTE24):c.*1462A>C	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 874230	NM_005857.5(ZMPSTE24):c.*663T>G	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 874177	NM_005857.5(ZMPSTE24):c.715G>A (p.Glu239Lys)	ZMPSTE24 (E239K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 874176	NM_005857.5(ZMPSTE24):c.474G>A (p.Gln158=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 779855	NM_005857.5(ZMPSTE24):c.1338T>C (p.Pro446=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	Mandibuloacral dysplasia with type B lipodystrophy +2 more	GLikely benign
Select item 731062	NM_005857.5(ZMPSTE24):c.954+3G>A	ZMPSTE24	Single nucleotide variant (intron variant)	Lethal tight skin contracture syndrome +2 more	GBenign/Likely benign
Select item 729079	NM_005857.5(ZMPSTE24):c.453A>G (p.Glu151=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	Lethal tight skin contracture syndrome +2 more	GBenign/Likely benign
Select item 725823	NM_005857.5(ZMPSTE24):c.1165T>C (p.Leu389=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 297277	NM_005857.5(ZMPSTE24):c.*1492A>G	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297276	NM_005857.5(ZMPSTE24):c.*1313T>C	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297275	NM_005857.5(ZMPSTE24):c.*1140T>C	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297273	NM_005857.5(ZMPSTE24):c.*696A>G	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297272	NM_005857.5(ZMPSTE24):c.*678G>C	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GLikely benign
Select item 297271	NM_005857.5(ZMPSTE24):c.*536C>T	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297270	NM_005857.5(ZMPSTE24):c.*521A>G	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GBenign
Select item 297269	NM_005857.5(ZMPSTE24):c.*296T>C	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297268	NM_005857.5(ZMPSTE24):c.*212G>T	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297266	NM_005857.5(ZMPSTE24):c.*59C>A	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GBenign
Select item 297265	NM_005857.5(ZMPSTE24):c.1106G>A (p.Arg369Gln)	ZMPSTE24 (R369Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 297264	NM_005857.5(ZMPSTE24):c.1050T>C (p.Ile350=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297263	NM_005857.5(ZMPSTE24):c.951_954+2del	ZMPSTE24	Microsatellite (splice donor variant)	ZMPSTE24-related condition +4 more	GConflicting classifications of pathogenicity
Select item 297262	NM_005857.5(ZMPSTE24):c.770-14T>C	ZMPSTE24	Single nucleotide variant (intron variant)	Mandibuloacral dysplasia with type B lipodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 297261	NM_005857.5(ZMPSTE24):c.555A>G (p.Leu185=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 297260	NM_005857.5(ZMPSTE24):c.237C>T (p.Phe79=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 297259	NM_005857.5(ZMPSTE24):c.30G>T (p.Leu10Phe)	LOC129930253, ZMPSTE24 (L10F)	Single nucleotide variant (missense variant)	Lethal tight skin contracture syndrome +2 more	GUncertain significance
Select item 297258	NM_005857.5(ZMPSTE24):c.-13G>A	LOC129930253, ZMPSTE24	Single nucleotide variant (5 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GUncertain significance
Select item 140543	NM_005857.5(ZMPSTE24):c.990C>T (p.Leu330=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 140537	NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter)	ZMPSTE24 (E237*)	Single nucleotide variant (nonsense)	Mandibuloacral dysplasia with type B lipodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 140536	NM_005857.5(ZMPSTE24):c.691G>T (p.Glu231Ter)	ZMPSTE24 (E231*)	Single nucleotide variant (nonsense)	Mandibuloacral dysplasia with type B lipodystrophy	GPathogenic
Select item 140501	NM_005857.5(ZMPSTE24):c.*890A>G	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GBenign
Select item 140500	NM_005857.5(ZMPSTE24):c.*723C>T	ZMPSTE24	Single nucleotide variant (3 prime UTR variant)	Lethal tight skin contracture syndrome +1 more	GBenign
Select item 130790	NM_005857.5(ZMPSTE24):c.325T>G (p.Cys109Gly)	ZMPSTE24 (C109G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95316	NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=)	ZMPSTE24	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 30586	NM_005857.5(ZMPSTE24):c.1349G>A (p.Trp450Ter)	ZMPSTE24 (W450*)	Single nucleotide variant (nonsense)	Mandibuloacral dysplasia with type B lipodystrophy	GPathogenic
Select item 4275	NM_005857.5(ZMPSTE24):c.743C>T (p.Pro248Leu)	ZMPSTE24 (P248L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 4274	NM_005857.5(ZMPSTE24):c.121C>T (p.Gln41Ter)	LOC129930253, ZMPSTE24 (Q41*)	Single nucleotide variant (nonsense)	Mandibuloacral dysplasia with type B lipodystrophy	GPathogenic
Select item 4272	NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg)	ZMPSTE24 (W340R)	Single nucleotide variant (missense variant)	Mandibuloacral dysplasia with type B lipodystrophy	GPathogenic
Select item 4271	NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs)	ZMPSTE24 (L362fs)	Duplication (frameshift variant)	ZMPSTE24-Related Disorders +3 more	GPathogenic

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Items: 55