Related gene-specific medical variations for Gene (Select 2186) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3134897	NM_182641.4(BPTF):c.475G>A (p.Glu159Lys)	BPTF, LOC130061496 (E159K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3032982	NM_182641.4(BPTF):c.456C>T (p.Ala152=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 2855584	NM_182641.4(BPTF):c.429GGA[5] (p.Glu148del)	BPTF, LOC130061496 (E148del)	Microsatellite (inframe_deletion)	BPTF-related disorder +1 more	GLikely benign
Select item 2783197	NM_182641.4(BPTF):c.555C>T (p.Asp185=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758645	NM_182641.4(BPTF):c.613+4C>T	BPTF, LOC130061496	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2709186	NM_182641.4(BPTF):c.399G>A (p.Glu133=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2662991	NM_182641.4(BPTF):c.592A>G (p.Ser198Gly)	BPTF, LOC130061496 (S198G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662798	NM_182641.4(BPTF):c.490G>A (p.Asp164Asn)	BPTF, LOC130061496 (D164N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648125	NM_182641.4(BPTF):c.468G>C (p.Gln156His)	BPTF, LOC130061496 (Q156H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648124	NM_182641.4(BPTF):c.450C>T (p.Gly150=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 2241792	NM_182641.4(BPTF):c.512A>G (p.Asp171Gly)	BPTF, LOC130061496 (D171G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2122109	NM_182641.4(BPTF):c.608C>T (p.Thr203Ile)	BPTF, LOC130061496 (T203I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977301	NM_182641.4(BPTF):c.556G>A (p.Ala186Thr)	BPTF, LOC130061496 (A186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973253	NM_182641.4(BPTF):c.429GGA[4] (p.Glu147_Glu148del)	BPTF, LOC130061496	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1972455	NM_182641.4(BPTF):c.455C>G (p.Ala152Gly)	BPTF, LOC130061496 (A152G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971921	NM_182641.4(BPTF):c.486GGA[1] (p.Glu163del)	BPTF, LOC130061496 (E163del)	Microsatellite (inframe_deletion)	not provided	GBenign/Likely benign
Select item 1971726	NM_182641.4(BPTF):c.604A>G (p.Ser202Gly)	BPTF, LOC130061496 (S202G)	Single nucleotide variant (missense variant)	BPTF-related disorder +2 more	GBenign/Likely benign
Select item 1971447	NM_182641.4(BPTF):c.451G>A (p.Asp151Asn)	BPTF, LOC130061496 (D151N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971346	NM_182641.4(BPTF):c.542ACG[6] (p.Asp185_Ala186insAsp)	BPTF, LOC130061496	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1971233	NM_182641.4(BPTF):c.429GGA[8] (p.Glu148_Asp149insGluGlu)	BPTF, LOC130061496	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1970967	NM_182641.4(BPTF):c.480C>G (p.Asp160Glu)	BPTF, LOC130061496 (D160E)	Single nucleotide variant (missense variant)	BPTF-related disorder +1 more	GBenign
Select item 1970951	NM_182641.4(BPTF):c.570G>A (p.Thr190=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1970928	NM_182641.4(BPTF):c.396GGA[1] (p.Glu136_Glu138del)	BPTF, LOC130061496	Microsatellite (inframe_deletion)	BPTF-related disorder +1 more	GLikely benign
Select item 1806224	NM_182641.4(BPTF):c.542ACG[4] (p.Asp185del)	BPTF, LOC130061496 (D185del)	Microsatellite (inframe_deletion)	not provided +2 more	GBenign
Select item 1710657	NM_182641.4(BPTF):c.417_440del (p.Asp139_Glu146del)	BPTF, LOC130061496	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1700070	NM_182641.4(BPTF):c.7582C>T (p.Gln2528Ter)	BPTF (Q2528*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696619	NM_182641.4(BPTF):c.543C>G (p.Asp181Glu)	BPTF, LOC130061496 (D181E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 1686605	NM_182641.4(BPTF):c.581T>G (p.Phe194Cys)	BPTF, LOC130061496 (F194C)	Single nucleotide variant (missense variant)	not specified	GBenign
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 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 1315408	NM_182641.4(BPTF):c.565T>A (p.Cys189Ser)	BPTF, LOC130061496 (C189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 992744	NM_182641.4(BPTF):c.4927A>C (p.Ser1643Arg)	BPTF (S1643R +1 more)	Single nucleotide variant (missense variant)	Microcephaly +1 more	GUncertain significance
Select item 983346	NM_182641.4(BPTF):c.5587C>T (p.Arg1863Ter)	BPTF (R1863* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 977329	NM_182641.4(BPTF):c.4918A>G (p.Thr1640Ala)	BPTF (T1640A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 813654	NM_182641.4(BPTF):c.3400G>A (p.Glu1134Lys)	BPTF (E1260K +1 more)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 559556	NM_182641.4(BPTF):c.5282del (p.Pro1761fs)	BPTF (P1761fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 431068	Single allele	BPTF	Deletion	Global developmental delay +2 more	GPathogenic

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Items: 54