ClinVar for MedGen (Select 376211) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382706	NM_181458.4(PAX3):c.452-1G>A	PAX3	Single nucleotide variant (splice acceptor variant)	Craniofacial-deafness-hand syndrome +3 more	GLikely pathogenic
Select item 3382692	NM_181458.4(PAX3):c.709G>C (p.Ala237Pro)	PAX3 (A236P +1 more)	Single nucleotide variant (missense variant)	Craniofacial-deafness-hand syndrome +3 more	GUncertain significance
Select item 3377037	NM_181458.4(PAX3):c.86-2A>C	PAX3	Single nucleotide variant (splice acceptor variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 3376858	NM_181458.4(PAX3):c.1253del (p.Gly418fs)	PAX3 (G417fs +1 more)	Deletion (intron variant +1 more)	Waardenburg syndrome type 1	GPathogenic
Select item 3353601	NM_181458.4(PAX3):c.232G>A (p.Val78Met)	PAX3 (V78M)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GPathogenic
Select item 3255589	NM_181458.4(PAX3):c.526del (p.Glu176fs)	PAX3 (E175fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 2664999	NM_181458.4(PAX3):c.809G>A (p.Arg270His)	PAX3 (R269H +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 2664327	NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)	PAX3 (R144* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 2585308	NM_181458.4(PAX3):c.509C>A (p.Ala170Asp)	PAX3 (A170D +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GUncertain significance
Select item 2579126	NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)	PAX3 (S200* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 2136213	NM_181458.4(PAX3):c.238C>T (p.His80Tyr)	PAX3 (H80Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1708138	NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)	PAX3 (Q229K +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1703585	GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516)	ACSL3, AP1S3 +13 more	Copy number loss	Waardenburg syndrome type 1	GPathogenic
Select item 1696489	NM_181458.4(PAX3):c.683C>T (p.Ala228Val)	PAX3 (A227V +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +2 more	GUncertain significance
Select item 1687163	NM_181458.4(PAX3):c.768del (p.Lys257fs)	PAX3 (K256fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1684545	NM_181458.4(PAX3):c.713T>C (p.Phe238Ser)	PAX3 (F237S +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GPathogenic
Select item 1677250	NM_181458.4(PAX3):c.809G>C (p.Arg270Pro)	PAX3 (R269P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1364757	NM_181458.4(PAX3):c.707G>A (p.Arg236His)	PAX3 (R236H +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +1 more	GUncertain significance
Select item 1306788	NM_181458.4(PAX3):c.1036T>C (p.Ser346Pro)	LOC126806529, PAX3 (S345P +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1299308	NM_181458.4(PAX3):c.202C>T (p.Arg68Trp)	PAX3 (R68W)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +1 more	GLikely pathogenic
Select item 1202632	NM_181458.4(PAX3):c.586+2T>A	PAX3	Single nucleotide variant (splice donor variant +1 more)	Waardenburg syndrome type 1	GPathogenic
Select item 1202630	NM_181458.4(PAX3):c.281G>T (p.Gly94Val)	PAX3 (G94V)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1185059	NM_181458.4(PAX3):c.372_373del (p.Asn125fs)	PAX3 (N124fs +1 more)	Microsatellite (frameshift variant)	Waardenburg syndrome	GPathogenic
Select item 1065839	NM_006941.4(SOX10):c.267del (p.Met90fs)	POLR2F, SOX10 (M90fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 1 +1 more	GPathogenic
Select item 1065838	NM_006941.4(SOX10):c.299_300insA (p.Ser100fs)	POLR2F, SOX10 (S100fs)	Insertion (frameshift variant +1 more)	Waardenburg syndrome type 1	GPathogenic
Select item 1065837	NM_006941.4(SOX10):c.422T>C (p.Leu141Pro)	POLR2F, SOX10 (L141P)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1065836	NM_006941.4(SOX10):c.336G>A (p.Met112Ile)	POLR2F, SOX10 (M112I)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 1	GPathogenic
Select item 1065835	NM_006941.4(SOX10):c.366_376del (p.Ala123fs)	POLR2F, SOX10 (A123fs)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 1	GPathogenic
Select item 1065834	NM_006941.4(SOX10):c.335T>C (p.Met112Thr)	POLR2F, SOX10 (M112T)	Single nucleotide variant (missense variant +1 more)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1064868	NM_181458.4(PAX3):c.366_367del (p.Asn125fs)	PAX3 (N124fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 1064866	NM_181458.4(PAX3):c.166C>T (p.Arg56Cys)	PAX3 (R56C)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 1048553	NM_181458.4(PAX3):c.123del (p.Gly42fs)	PAX3 (G42fs)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 1048552	NM_181458.4(PAX3):c.*175C>T	PAX3 (Q487*)	Single nucleotide variant (3 prime UTR variant +2 more)	Waardenburg syndrome type 1	GPathogenic
Select item 995921	NM_181458.4(PAX3):c.143del (p.Gly48fs)	PAX3 (G48fs)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 995917	GRCh37/hg19 2q36.1(chr2:222199886-222298997)	EPHA4, PAX3	Copy number loss	Waardenburg syndrome type 1	GPathogenic
Select item 995916	NM_181458.4(PAX3):c.925dup (p.Glu309fs)	PAX3 (E308fs +1 more)	Duplication (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 995915	NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)	PAX3 (L251P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 995914	NM_181458.4(PAX3):c.706C>A (p.Arg236Ser)	PAX3 (R235S +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GPathogenic
Select item 995913	NM_181458.4(PAX3):c.671C>T (p.Thr224Ile)	PAX3 (T223I +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GPathogenic
Select item 995912	NM_181458.4(PAX3):c.264del (p.Leu87_Cys88insTer)	PAX3	Deletion (nonsense)	Waardenburg syndrome type 1	GPathogenic
Select item 995911	NM_181458.4(PAX3):c.241G>C (p.Gly81Arg)	PAX3 (G81R)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GPathogenic
Select item 975974	NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)	PAX3 (Y90*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 827652	NM_181458.4(PAX3):c.127G>T (p.Gly43Cys)	PAX3 (G43C)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GPathogenic
Select item 817744	NM_006941.4(SOX10):c.1160_1179dup (p.Ser394fs)	POLR2F, SOX10 (S394fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 801902	NM_181458.4(PAX3):c.239A>G (p.His80Arg)	PAX3 (H80R)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 800739	NM_181458.4(PAX3):c.*3G>C	PAX3	Single nucleotide variant (3 prime UTR variant +2 more)	Waardenburg syndrome type 1	GUncertain significance
Select item 800731	NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs)	LOC126806529, PAX3 (T359fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 547753	NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs)	PAX3 (S459fs +1 more)	Duplication (frameshift variant +1 more)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547752	NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)	PAX3 (S426* +1 more)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547751	NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter)	LOC126806529, PAX3 (Q341* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547750	NM_181458.4(PAX3):c.921del (p.Ser308fs)	PAX3 (S307fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547749	NM_181458.4(PAX3):c.818G>A (p.Arg273Lys)	PAX3 (R273K +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GUncertain significance
Select item 547748	NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)	PAX3 (R271C +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +2 more	GPathogenic
Select item 547747	NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)	PAX3 (R270C +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +1 more	GPathogenic
Select item 547746	NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)	PAX3 (Q264P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547745	NM_181458.4(PAX3):c.730C>T (p.Pro244Ser)	PAX3 (P244S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 547744	NM_181458.4(PAX3):c.692T>C (p.Leu231Pro)	PAX3 (L231P +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547743	NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer)	PAX3	Insertion (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547742	NM_181458.4(PAX3):c.524dup (p.Glu176fs)	PAX3 (E176fs +1 more)	Duplication (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547741	NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs)	PAX3 (K161fs +1 more)	Indel (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547740	NM_181458.4(PAX3):c.452-9C>A	PAX3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 547739	NM_181458.4(PAX3):c.293C>T (p.Pro98Leu)	PAX3 (P98L)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GUncertain significance
Select item 547738	NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys)	PAX3 (Y90C)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547737	NM_181458.4(PAX3):c.246C>A (p.Cys82Ter)	PAX3 (C82*)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547735	NM_181458.4(PAX3):c.232G>T (p.Val78Leu)	PAX3 (V78L)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 547734	NM_181458.4(PAX3):c.227T>G (p.Leu76Arg)	PAX3 (L76R)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GUncertain significance
Select item 547733	NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)	PAX3 (S73L)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +1 more	GPathogenic
Select item 547732	NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)	PAX3 (C70*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 547731	NM_181458.4(PAX3):c.136dup (p.Ile46fs)	PAX3 (I46fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 547730	NM_181458.4(PAX3):c.86-2A>G	PAX3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 545018	NM_181458.4(PAX3):c.256A>T (p.Ile86Phe)	PAX3 (I86F)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 545017	NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)	PAX3 (Y410* +1 more)	Single nucleotide variant (nonsense +1 more)	Waardenburg syndrome type 1	GPathogenic
Select item 545015	NM_001354604.2(MITF):c.1031+1G>A	MITF	Single nucleotide variant (splice donor variant)	Tietz syndrome +3 more	GPathogenic
Select item 505425	NM_181458.4(PAX3):c.879dup (p.Phe294fs)	PAX3 (F294fs +1 more)	Duplication (frameshift variant)	Waardenburg syndrome +3 more	GPathogenic
Select item 504788	NM_181458.4(PAX3):c.540C>G (p.Ser180Arg)	PAX3 (S180R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 504786	NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)	PAX3 (E194K +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome +6 more	GConflicting classifications of pathogenicity
Select item 503680	NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)	PAX3 (R223* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 488039	NM_181458.4(PAX3):c.1195C>G (p.His399Asp)	PAX3 (H399D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 488038	NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)	PAX3 (G48R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 488037	NM_181458.4(PAX3):c.464del (p.Ser155fs)	PAX3 (S155fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 488036	NM_181458.4(PAX3):c.790C>T (p.Gln264Ter)	PAX3 (Q264* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 488035	NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del)	PAX3	Deletion (inframe_deletion)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 488034	NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)	PAX3 (G42R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 488033	NM_181458.4(PAX3):c.727_739del (p.Tyr243fs)	PAX3 (Y242fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GLikely pathogenic
Select item 488032	NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)	PAX3 (G48C)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 280007	NM_181458.4(PAX3):c.784C>T (p.Arg262Ter)	PAX3 (R262* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 279964	NM_181458.4(PAX3):c.812G>A (p.Arg271His)	PAX3 (R271H +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +4 more	GPathogenic
Select item 235094	NM_181458.4(PAX3):c.415A>T (p.Lys139Ter)	PAX3 (K139* +1 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 1	GPathogenic
Select item 226992	NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)	PAX3 (K175N +1 more)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +4 more	GBenign/Likely benign
Select item 218940	NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)	PAX3 (T315K +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 195432	NM_181458.4(PAX3):c.129T>C (p.Gly43=)	PAX3	Single nucleotide variant (synonymous variant)	Waardenburg syndrome +5 more	GBenign
Select item 133308	NM_181458.4(PAX3):c.241G>T (p.Gly81Cys)	PAX3 (G81C)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +1 more	GConflicting classifications of pathogenicity
Select item 30596	NM_181458.4(PAX3):c.556del (p.His186fs)	PAX3 (H186fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 30595	NM_181458.4(PAX3):c.238C>G (p.His80Asp)	PAX3 (H80D)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1	GPathogenic
Select item 4217	NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)	PAX3 (R56L)	Single nucleotide variant (missense variant)	Waardenburg syndrome +1 more	GPathogenic/Likely pathogenic
Select item 4212	NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)	PAX3 (S84F)	Single nucleotide variant (missense variant)	Waardenburg syndrome type 1 +1 more	GPathogenic
Select item 4211	NM_181458.4(PAX3):c.365_369del (p.Lys122fs)	PAX3 (K122fs +1 more)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic
Select item 4210	NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)	PAX3 (G81A)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 4209	NM_181458.4(PAX3):c.558_559del (p.His186fs)	PAX3 (H185fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 4208	NM_181458.4(PAX3):c.288del (p.Arg97fs)	PAX3 (R97fs)	Deletion (frameshift variant)	Waardenburg syndrome type 1	GPathogenic

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