werner - ClinVar - NCBI

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Showing results for Werneria. Your search for Werneria retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292824	NM_005572.3(LMNA):c.-225C>A	LMNA	Single nucleotide variant (5 prime UTR variant +1 more)	Mandibuloacral dysplasia +9 more	GUncertain significance
Select item 292826	NM_170707.4(LMNA):c.-183C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292827	NM_170707.4(LMNA):c.-142C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292830	NM_170707.4(LMNA):c.-109G>T	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292832	NM_170707.4(LMNA):c.-62C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 292833	NM_170707.4(LMNA):c.-5C>A	LMNA	Single nucleotide variant (5 prime UTR variant)	Familial partial lipodystrophy +9 more	GUncertain significance
Select item 14506	NM_170707.4(LMNA):c.169G>C (p.Ala57Pro)	LMNA (A57P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	GPathogenic
Select item 14508	NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	LMNA, LOC126805877 (R133P +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GLikely pathogenic
Select item 14488	NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	LMNA, LOC126805877 (R133L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 14507	NM_170707.4(LMNA):c.419T>G (p.Leu140Arg)	LMNA, LOC126805877 (L140R +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford progeria syndrome, childhood-onset	GPathogenic
Select item 292837	NM_170707.4(LMNA):c.936+12C>T	LMNA	Single nucleotide variant (intron variant)	Familial partial lipodystrophy +12 more	GConflicting classifications of pathogenicity
Select item 292838	NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)	LMNA (R329S +2 more)	Single nucleotide variant (missense variant)	Mandibuloacral dysplasia +12 more	GUncertain significance
Select item 368833	NM_170707.4(LMNA):c.1698+124C>T	LMNA	Single nucleotide variant (intron variant)	Dilated Cardiomyopathy, Dominant +9 more	GUncertain significance
Select item 13220	NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr)	BCHE (A567T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 559071	NM_000414.4(HSD17B4):c.1210-11C>G	HSD17B4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 155923	NM_022458.4(LMBR1):c.423+4919A>G	LMBR1, ZRS	Single nucleotide variant (intron variant)	Tibia, hypoplasia or aplasia of, with polydactyly	GPathogenic
Select item 155921	NM_022458.4(LMBR1):c.423+4917G>C	LMBR1, ZRS	Single nucleotide variant (intron variant)	Tibia, hypoplasia or aplasia of, with polydactyly	GPathogenic
Select item 4898	NM_022458.4(LMBR1):c.423+4917G>A	LMBR1, ZRS	Single nucleotide variant (intron variant)	Tibia, hypoplasia or aplasia of, with polydactyly	GPathogenic
Select item 126371	NM_022458.4(LMBR1):c.423+4915C>T	LMBR1, ZRS	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 362771	NM_001323311.2(PURG):c.-280C>G	LOC130000177, PURG +1 more	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362772	NM_000553.5(WRN):c.-683G>T	LOC130000177, WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362773	NM_000553.5(WRN):c.-677G>T	LOC130000177, WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362774	NM_000553.5(WRN):c.-636G>C	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 910942	NM_000553.5(WRN):c.-631G>C	WRN	Single nucleotide variant	Werner syndrome	GLikely benign
Select item 362775	NM_000553.5(WRN):c.-618C>G	WRN	Single nucleotide variant	Werner syndrome	GBenign
Select item 362776	NM_000553.5(WRN):c.-605C>A	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362777	NM_000553.5(WRN):c.-519C>A	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362778	NM_000553.5(WRN):c.-437C>T	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362779	NM_000553.5(WRN):c.-408C>T	WRN	Single nucleotide variant	Werner syndrome	GBenign
Select item 362780	NM_000553.5(WRN):c.-380G>A	WRN	Single nucleotide variant	Werner syndrome	GUncertain significance
Select item 362781	NM_000553.5(WRN):c.-297dup	WRN	Duplication	Werner syndrome	GUncertain significance
Select item 362782	NM_000553.5(WRN):c.-295_-294insG	WRN	Insertion	Werner syndrome	GUncertain significance
Select item 362783	NM_000553.5(WRN):c.-289dup	WRN	Duplication	Werner syndrome	GUncertain significance
Select item 362784	NM_000553.5(WRN):c.-289delG	WRN	Deletion	Werner syndrome	GUncertain significance
Select item 362785	NM_000553.5(WRN):c.-284dup	WRN	Duplication	Werner syndrome	GUncertain significance
Select item 362786	NM_000553.5(WRN):c.-278G>C	WRN	Single nucleotide variant	Werner syndrome	GBenign
Select item 362787	NM_000553.6(WRN):c.-240G>A	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362788	NM_000553.6(WRN):c.-234T>A	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362789	NM_000553.6(WRN):c.-213G>A	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GBenign
Select item 362790	NM_000553.6(WRN):c.-209T>G	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362791	NM_000553.6(WRN):c.-197C>T	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362792	NM_000553.6(WRN):c.-163C>G	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GBenign
Select item 362793	NM_000553.6(WRN):c.-152G>A	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 912164	NM_000553.6(WRN):c.-135G>C	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 908156	NM_000553.6(WRN):c.-121C>G	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 362794	NM_000553.6(WRN):c.-37A>G	WRN	Single nucleotide variant (5 prime UTR variant)	Werner syndrome	GUncertain significance
Select item 665630	NC_000008.10:g.(?_30915954)_(31030628_?)dup	WRN, LOC126860342	Duplication	Werner syndrome	GUncertain significance
Select item 528220	NC_000008.10:g.(?_30915958)_(31030624_?)dup	LOC126860342, WRN	Duplication	Werner syndrome	GUncertain significance
Select item 2766120	NM_000553.6(WRN):c.1A>G (p.Met1Val)	WRN (M1V)	Single nucleotide variant (missense variant +1 more)	Werner syndrome	GUncertain significance
Select item 1473754	NM_000553.6(WRN):c.6T>G (p.Ser2Arg)	WRN (S2R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1070898	NM_000553.6(WRN):c.15dup (p.Leu6fs)	WRN (L6fs)	Duplication (frameshift variant)	Werner syndrome	GPathogenic
Select item 238124	NM_000553.6(WRN):c.15del (p.Lys5fs)	WRN (K5fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 1081594	NM_000553.6(WRN):c.12A>G (p.Lys4=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 528099	NM_000553.6(WRN):c.16T>A (p.Leu6Met)	WRN (L6M)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 238126	NM_000553.6(WRN):c.16T>C (p.Leu6=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GConflicting classifications of pathogenicity
Select item 1574586	NM_000553.6(WRN):c.18G>A (p.Leu6=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2880289	NM_000553.6(WRN):c.20A>T (p.Glu7Val)	WRN (E7V)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1452051	NM_000553.6(WRN):c.22del (p.Thr8fs)	WRN (T8fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 2748376	NM_000553.6(WRN):c.21A>G (p.Glu7=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2145847	NM_000553.6(WRN):c.24A>C (p.Thr8=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 458425	NM_000553.6(WRN):c.25A>G (p.Thr9Ala)	WRN (T9A)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 852968	NM_000553.6(WRN):c.26C>T (p.Thr9Ile)	WRN (T9I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2875262	NM_000553.6(WRN):c.27T>C (p.Thr9=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2090594	NM_000553.6(WRN):c.28G>A (p.Ala10Thr)	WRN (A10T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1007438	NM_000553.6(WRN):c.29C>T (p.Ala10Val)	WRN (A10V)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2909555	NM_000553.6(WRN):c.30A>C (p.Ala10=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2861025	NM_000553.6(WRN):c.30A>T (p.Ala10=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1385909	NM_000553.6(WRN):c.31C>T (p.Gln11Ter)	WRN (Q11*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic
Select item 576909	NM_000553.6(WRN):c.32A>C (p.Gln11Pro)	WRN (Q11P)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1152800	NM_000553.6(WRN):c.33G>A (p.Gln11=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2010418	NM_000553.6(WRN):c.35A>C (p.Gln12Pro)	WRN (Q12P)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 664926	NM_000553.6(WRN):c.37C>T (p.Arg13Trp)	WRN (R13W)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2679609	NM_000553.6(WRN):c.39_40dup (p.Lys14fs)	WRN (K14fs)	Duplication (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 864248	NM_000553.6(WRN):c.38G>A (p.Arg13Gln)	WRN (R13Q)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 458483	NM_000553.6(WRN):c.42A>G (p.Lys14=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1006554	NM_000553.6(WRN):c.43T>A (p.Cys15Ser)	WRN (C15S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 967641	NM_000553.6(WRN):c.47C>T (p.Pro16Leu)	WRN (P16L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1063909	NM_000553.6(WRN):c.58A>G (p.Asn20Asp)	WRN (N20D)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1510469	NM_000553.6(WRN):c.59A>G (p.Asn20Ser)	WRN (N20S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 528138	NM_000553.6(WRN):c.59A>T (p.Asn20Ile)	WRN (N20I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 570997	NM_000553.6(WRN):c.60T>G (p.Asn20Lys)	WRN (N20K)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1402446	NM_000553.6(WRN):c.61G>A (p.Val21Met)	WRN (V21M)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2875714	NM_000553.6(WRN):c.63G>T (p.Val21=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1059058	NM_000553.6(WRN):c.66G>T (p.Gln22His)	WRN (Q22H)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 841149	NM_000553.6(WRN):c.68A>G (p.Asn23Ser)	WRN (N23S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1379345	NM_000553.6(WRN):c.69T>A (p.Asn23Lys)	WRN (N23K)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1375433	NM_000553.6(WRN):c.71A>G (p.Lys24Arg)	WRN (K24R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 458499	NM_000553.6(WRN):c.75A>G (p.Arg25=)	WRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 528155	NM_000553.6(WRN):c.77G>A (p.Cys26Tyr)	WRN (C26Y)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1381413	NM_000553.6(WRN):c.79G>A (p.Ala27Thr)	WRN (A27T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 646786	NM_000553.6(WRN):c.82G>A (p.Val28Ile)	WRN (V28I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 528118	NM_000553.6(WRN):c.82G>C (p.Val28Leu)	WRN (V28L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2823158	NM_000553.6(WRN):c.83T>C (p.Val28Ala)	WRN (V28A)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2842058	NM_000553.6(WRN):c.86A>G (p.Glu29Gly)	WRN (E29G)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1606640	NM_000553.6(WRN):c.87A>G (p.Glu29=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 569323	NM_000553.6(WRN):c.88G>T (p.Glu30Ter)	WRN (E30*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 2755388	NM_000553.6(WRN):c.90A>G (p.Glu30=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 1417460	NM_000553.6(WRN):c.92G>A (p.Arg31Lys)	WRN (R31K)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1021575	NM_000553.6(WRN):c.92G>T (p.Arg31Ile)	WRN (R31I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2851125	NM_000553.6(WRN):c.94A>G (p.Lys32Glu)	WRN (K32E)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance

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