ClinVar for MedGen (Select 1627464) - ClinVar

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Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258092	NM_182641.4(BPTF):c.7960_7963del (p.Glu2654fs)	BPTF (E2637fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 3254960	NM_182641.4(BPTF):c.3157_3158del (p.Lys1053fs)	BPTF (K1053fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 3254645	NM_182641.4(BPTF):c.5934C>G (p.Phe1978Leu)	BPTF (F1978L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 3238801	NM_182641.4(BPTF):c.5489A>G (p.Tyr1830Cys)	BPTF (Y1830C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 3237505	NM_182641.4(BPTF):c.5186A>C (p.Lys1729Thr)	BPTF (K1729T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 3234905	NM_182641.4(BPTF):c.5980C>G (p.Gln1994Glu)	BPTF (Q1994E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 3068507	NM_182641.4(BPTF):c.7776dup (p.Arg2593fs)	BPTF (R2576fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 3068484	NM_182641.4(BPTF):c.8683G>A (p.Glu2895Lys)	BPTF (E2878K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 3024276	NM_182641.4(BPTF):c.2812+3A>T	BPTF	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2688675	NM_182641.4(BPTF):c.2047G>C (p.Gly683Arg)	BPTF (G683R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2672257	NM_182641.4(BPTF):c.5026A>G (p.Met1676Val)	BPTF (M1676V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2664088	NC_000010.11:g.79055368_79303220del	LOC110121445, LOC111365175 +36 more	Deletion	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 2663908	NM_020706.2(SCAF4):c.1457_1458del (p.Lys486fs)	SCAF4 (K471fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 2582585	NM_182641.4(BPTF):c.7566G>T (p.Lys2522Asn)	BPTF (K2522N)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2577479	NM_000719.7(CACNA1C):c.763C>T (p.Gln255Ter)	CACNA1C (Q255*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 2442215	NM_182641.4(BPTF):c.3107T>C (p.Val1036Ala)	BPTF (V1036A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2441954	NM_182641.4(BPTF):c.1463A>G (p.Glu488Gly)	BPTF (E488G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2439551	NM_182641.4(BPTF):c.3545A>G (p.Gln1182Arg)	BPTF (Q1182R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2439550	NM_182641.4(BPTF):c.3481T>C (p.Tyr1161His)	BPTF (Y1161H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 2439549	NM_182641.4(BPTF):c.6322G>A (p.Ala2108Thr)	BPTF (A2108T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2439548	NM_182641.4(BPTF):c.4592T>A (p.Val1531Glu)	BPTF (V1531E +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2439547	NM_182641.4(BPTF):c.508G>A (p.Asp170Asn)	BPTF, LOC130061496 (D170N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2439546	NM_182641.4(BPTF):c.2437A>T (p.Met813Leu)	BPTF (M813L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2439545	NM_182641.4(BPTF):c.206G>C (p.Gly69Ala)	BPTF (G69A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2439543	NM_182641.4(BPTF):c.2768T>G (p.Leu923Trp)	BPTF (L1049W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2430127	NM_014712.3(SETD1A):c.2825del (p.Pro942fs)	SETD1A (P942fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 2007963	NM_182641.4(BPTF):c.6689C>T (p.Thr2230Met)	BPTF (T2230M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1806224	NM_182641.4(BPTF):c.542ACG[4] (p.Asp185del)	BPTF, LOC130061496 (D185del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +2 more	GBenign
Select item 1805999	NM_182641.4(BPTF):c.5044T>C (p.Tyr1682His)	BPTF (Y1682H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1805920	NM_182641.4(BPTF):c.8201A>G (p.Lys2734Arg)	BPTF (K2717R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1805684	NM_182641.4(BPTF):c.1074G>C (p.Glu358Asp)	BPTF (E358D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 1805140	NM_182641.4(BPTF):c.3905G>A (p.Ser1302Asn)	BPTF (S1302N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GConflicting classifications of pathogenicity
Select item 1801330	NM_001162501.2(TNRC6B):c.1660del (p.Gln554fs)	TNRC6B (Q554fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GPathogenic
Select item 1710190	NM_182641.4(BPTF):c.5644ATT[1] (p.Ile1883del)	BPTF (I1883del +1 more)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1710043	NM_182641.4(BPTF):c.4072G>A (p.Gly1358Ser)	BPTF (G1358S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1709817	NM_182641.4(BPTF):c.5381A>G (p.Asp1794Gly)	BPTF (D1794G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1709265	NM_182641.4(BPTF):c.769G>A (p.Gly257Ser)	BPTF (G257S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1709195	NM_182641.4(BPTF):c.1424G>A (p.Arg475Gln)	BPTF (R475Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GConflicting classifications of pathogenicity
Select item 1708241	NM_182641.4(BPTF):c.5455del (p.Thr1819fs)	BPTF (T1819fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 1699005	NM_182641.4(BPTF):c.3403G>A (p.Asp1135Asn)	BPTF (D1135N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1696619	NM_182641.4(BPTF):c.543C>G (p.Asp181Glu)	BPTF, LOC130061496 (D181E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1693493	NM_182641.4(BPTF):c.209dup (p.Ser71fs)	BPTF (S71fs)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 1679593	NM_182641.4(BPTF):c.3148A>G (p.Ser1050Gly)	BPTF (S1050G +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1341681	NM_182641.4(BPTF):c.1133G>A (p.Arg378Gln)	BPTF (R378Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 1341680	NM_182641.4(BPTF):c.5564del (p.Pro1855fs)	BPTF (P1855fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 1338862	NM_182931.3(KMT2E):c.4336_4340del (p.His1446fs)	KMT2E (H1446fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 1334084	NM_182641.4(BPTF):c.1132C>T (p.Arg378Ter)	BPTF (R378*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 1330710	NM_182641.4(BPTF):c.6562_6563del (p.Val2188fs)	BPTF (V2188fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 1319947	NM_182641.4(BPTF):c.7960_7961del (p.Glu2654fs)	BPTF (E2637fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 1319921	NM_182641.4(BPTF):c.1999C>T (p.Gln667Ter)	BPTF (Q667* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 1290490	NM_182641.4(BPTF):c.36C>G (p.Pro12=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1236203	NM_182641.4(BPTF):c.6179G>C (p.Gly2060Ala)	BPTF (G2060A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1192360	NM_182641.4(BPTF):c.7927-6T>C	BPTF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175512	NM_182641.4(BPTF):c.8035GCCCCTCCA[3] (p.2676APP[4])	BPTF	Microsatellite (inframe_insertion)	not provided +1 more	GBenign
Select item 1174080	NM_182641.4(BPTF):c.5575_5576del (p.Arg1859fs)	BPTF (R1859fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 1172557	NM_182641.4(BPTF):c.1628G>A (p.Gly543Asp)	BPTF (G543D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1031427	NM_182641.4(BPTF):c.8552T>G (p.Met2851Arg)	BPTF (M2834R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 1031426	NM_182641.4(BPTF):c.6952G>A (p.Ala2318Thr)	BPTF (A2318T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1031425	NM_182641.4(BPTF):c.6874G>A (p.Glu2292Lys)	BPTF (E2418K +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1031424	NM_182641.4(BPTF):c.3058G>A (p.Asp1020Asn)	BPTF (D1020N +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 1029320	NM_182641.4(BPTF):c.7426C>G (p.Gln2476Glu)	BPTF (Q2476E)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1028762	NM_182641.4(BPTF):c.961A>G (p.Ile321Val)	BPTF (I321V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1028761	NM_182641.4(BPTF):c.5296A>T (p.Thr1766Ser)	BPTF (T1892S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1028760	NM_182641.4(BPTF):c.469G>A (p.Asp157Asn)	BPTF, LOC130061496 (D157N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 1028759	NM_182641.4(BPTF):c.2798A>T (p.Lys933Met)	BPTF (K933M +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 1028251	NM_182641.4(BPTF):c.1864+607T>G	BPTF (S646A)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 1028250	NM_182641.4(BPTF):c.1355A>G (p.Asn452Ser)	BPTF (N452S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 976787	NM_182641.4(BPTF):c.52_61del (p.Glu18fs)	BPTF (E18fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 973013	NM_182641.4(BPTF):c.898_899del (p.Thr300fs)	BPTF (T300fs)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Gnot provided
Select item 931596	NM_182641.4(BPTF):c.542ACG[7] (p.Asp184_Asp185dup)	BPTF, LOC130061496	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 931495	NM_182641.4(BPTF):c.1568T>C (p.Met523Thr)	BPTF (M523T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 931189	NM_182641.4(BPTF):c.5709-14T>G	BPTF	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 915428	NM_182641.4(BPTF):c.1979A>G (p.Lys660Arg)	BPTF (K660R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 828184	NM_182641.4(BPTF):c.255del (p.Ser86fs)	BPTF (S86fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +2 more	GPathogenic
Select item 800753	NM_182641.4(BPTF):c.3310G>C (p.Glu1104Gln)	BPTF (E1104Q +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 785575	NM_182641.4(BPTF):c.5694G>A (p.Arg1898=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 785574	NM_182641.4(BPTF):c.5385T>C (p.Asp1795=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 690388	NM_182641.4(BPTF):c.2832_2843del (p.941_944NMDE[1])	BPTF	Deletion (inframe_deletion)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 689464	NM_182641.4(BPTF):c.8625dup (p.Asn2876Ter)	BPTF (N2876* +1 more)	Duplication (nonsense)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 617475	NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	EIF3F (F232V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 67 +6 more	GPathogenic/Likely pathogenic
Select item 445285	NM_006908.5(RAC1):c.151G>C (p.Val51Leu)	RAC1 (V51L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GLikely pathogenic
Select item 431072	NM_182641.4(BPTF):c.989del (p.Leu330fs)	BPTF (L330fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 431071	NM_182641.4(BPTF):c.8609T>G (p.Met2870Arg)	BPTF (M2853R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more	GPathogenic/Likely pathogenic
Select item 431066	NM_182641.4(BPTF):c.8701A>T (p.Lys2901Ter)	BPTF (K2884* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more	GPathogenic
Select item 431065	NM_182641.4(BPTF):c.4838_4839del (p.Val1613fs)	BPTF (V1739fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more	GPathogenic
Select item 431064	NM_182641.4(BPTF):c.2482dup (p.Glu828fs)	BPTF (E828fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +3 more	GPathogenic
Select item 373330	NM_182641.4(BPTF):c.8262-2A>G	BPTF	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 236407	NM_000310.4(PPT1):c.713C>T (p.Pro238Leu)	PPT1 (P238L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GPathogenic/Likely pathogenic
Select item 8883	NM_000193.4(SHH):c.676G>A (p.Ala226Thr)	SHH (A226T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 89