Related gene-specific medical variations for Gene (Select 5053) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317868	NM_004316.4(ASCL1):c.51G>T (p.Gln17His)	ASCL1, PAH (Q17H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244241	NC_000012.11:g.(?_103232953)_(103240749_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3244240	NC_000012.11:g.(?_103288493)_(103310908_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3244239	NC_000012.11:g.(?_103248894)_(103249131_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3244237	NC_000012.12:g.(?_102894715)_(102894938_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3244236	NC_000012.11:g.(?_103306549)_(103306696_?)del	PAH	Deletion	Phenylketonuria	GPathogenic
Select item 3240004	NM_000277.3(PAH):c.1179_1180del (p.Asn393fs)	PAH (N393fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 3240003	NM_000277.3(PAH):c.130G>T (p.Glu44Ter)	PAH (E44*)	Single nucleotide variant (nonsense)	Phenylketonuria	GLikely pathogenic
Select item 3240001	NM_000277.3(PAH):c.745_755del (p.Leu249fs)	PAH (L249fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 3045630	NM_004316.4(ASCL1):c.151CAG[21] (p.Gln62_Ala63insGlnGlnGlnGlnGlnGlnGlnGlnGln)	ASCL1, PAH	Microsatellite (inframe_insertion +1 more)	ASCL1-related disorder	GLikely benign
Select item 3004256	NM_000277.3(PAH):c.912+20G>T	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2910718	NM_000277.3(PAH):c.912+18dup	LOC126861615, PAH	Duplication (intron variant)	Phenylketonuria	GBenign
Select item 2839508	NM_000277.3(PAH):c.912+15T>G	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2763129	NM_000277.3(PAH):c.888T>C (p.Asp296=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2733328	NM_000277.3(PAH):c.843-11C>G	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 2696437	NM_000277.3(PAH):c.901del (p.Gln301fs)	LOC126861615, PAH (Q301fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic
Select item 2689650	NM_000277.3(PAH):c.720C>T (p.Phe240=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance
Select item 2688611	NM_004316.4(ASCL1):c.102_114delinsC (p.Ala44_Ala47del)	ASCL1, PAH	Indel (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2682033	NM_000277.3(PAH):c.374T>C (p.Ile125Thr)	PAH (I125T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682032	NM_000277.3(PAH):c.1273G>A (p.Asp425Asn)	PAH (D425N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2677442	NM_000277.3(PAH):c.929C>G (p.Ser310Cys)	PAH (S310C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 2677441	NM_000277.3(PAH):c.578C>T (p.Thr193Ile)	PAH (T193I)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 2677440	NM_000277.3(PAH):c.618_625del (p.Asn207fs)	PAH (N207fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 2677439	NM_000277.3(PAH):c.1334del (p.Cys445fs)	PAH (C445fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 2677438	NM_000277.3(PAH):c.973_976del (p.Tyr325fs)	PAH (Y325fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 2677437	NM_000277.3(PAH):c.256del (p.Arg86fs)	PAH (R86fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 2677435	NM_000277.3(PAH):c.797C>T (p.Thr266Ile)	PAH (T266I)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 2677434	NM_000277.3(PAH):c.792del (p.Cys265fs)	PAH (C265fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic
Select item 2677433	NM_000277.3(PAH):c.693del (p.Gln232fs)	PAH (Q232fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 2677431	NM_000277.3(PAH):c.72T>A (p.Tyr24Ter)	PAH (Y24*)	Single nucleotide variant (nonsense)	Phenylketonuria	GLikely pathogenic
Select item 2643248	NM_004316.4(ASCL1):c.101C>G (p.Thr34Arg)	ASCL1, PAH (T34R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2601447	NM_004316.4(ASCL1):c.134C>T (p.Ala45Val)	ASCL1, PAH (A45V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548874	NM_004316.4(ASCL1):c.188C>A (p.Ala63Glu)	ASCL1, PAH (A63E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2432429	NM_000277.3(PAH):c.350_351del (p.Thr117fs)	PAH (T117fs)	Microsatellite (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 2432412	NM_000277.3(PAH):c.946G>T (p.Glu316Ter)	PAH (E316*)	Single nucleotide variant (nonsense)	Phenylketonuria	GLikely pathogenic
Select item 2397272	NM_004316.4(ASCL1):c.127G>A (p.Ala43Thr)	ASCL1, PAH (A43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292141	NM_004316.4(ASCL1):c.47C>A (p.Pro16His)	ASCL1, PAH (P16H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2104422	NM_000277.3(PAH):c.873_880del (p.Pro292fs)	LOC126861615, PAH (P292fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic
Select item 2070899	NM_000277.3(PAH):c.899C>G (p.Ala300Gly)	LOC126861615, PAH (A300G)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 2036025	NM_000277.3(PAH):c.870T>A (p.His290Gln)	LOC126861615, PAH (H290Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 2032348	NM_000277.3(PAH):c.876C>A (p.Pro292=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 2013096	NM_000277.3(PAH):c.867A>T (p.Gly289=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 1905507	NM_000277.3(PAH):c.912+9T>C	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 1810394	NM_000277.3(PAH):c.843T>A (p.Pro281=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 1726205	NM_000277.3(PAH):c.878del (p.Leu293fs)	LOC126861615, PAH (L293fs)	Deletion (frameshift variant)	Phenylketonuria	GLikely pathogenic
Select item 1708753	NM_000277.1:c.169_171del	PAH	Deletion	not provided	GLikely pathogenic
Select item 1693240	NM_000277.3(PAH):c.843-13_843-10del	LOC126861615, PAH	Deletion (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 1693234	NM_000277.3(PAH):c.935del (p.Gly312fs)	PAH (G312fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 1693230	NM_000277.3(PAH):c.753_754del (p.Arg252fs)	PAH (R252fs)	Microsatellite (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 1686519	NM_004316.4(ASCL1):c.151CAG[10] (p.Gln61_Gln62del)	ASCL1, PAH	Microsatellite (inframe_deletion +1 more)	not specified	GBenign
Select item 1619025	NM_000277.3(PAH):c.843-9G>C	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 1607065	NM_000277.3(PAH):c.858G>A (p.Glu286=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 1493384	NM_000277.3(PAH):c.886G>A (p.Asp296Asn)	LOC126861615, PAH (D296N)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 1350724	NM_000277.3(PAH):c.843-8T>C	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance
Select item 1279334	NM_000277.3(PAH):c.912+229C>G	LOC126861615, PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269142	NM_000277.3(PAH):c.843-268T>C	LOC126861615, PAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229581	NM_004316.4(ASCL1):c.-197T>C	ASCL1, PAH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1185009	NM_000277.3(PAH):c.910C>A (p.Gln304Lys)	LOC126861615, PAH (Q304K)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 1159667	NM_000277.3(PAH):c.861G>T (p.Leu287=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 1120178	NM_000277.3(PAH):c.706+368T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic
Select item 1120177	NM_000277.3(PAH):c.1065+241C>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic
Select item 1120176	NM_000277.3(PAH):c.1199+502A>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic
Select item 1119093	NM_000277.3(PAH):c.861G>A (p.Leu287=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 1068222	NM_000277.3(PAH):c.859C>A (p.Leu287Met)	LOC126861615, PAH (L287M)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 1065381	NM_000277.3(PAH):c.847A>G (p.Ile283Val)	LOC126861615, PAH (I283V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 1065377	NM_000277.3(PAH):c.843-6T>C	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 1065376	NM_000277.3(PAH):c.843-1G>A	LOC126861615, PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 1012830	NM_000277.3(PAH):c.843-16G>A	LOC126861615, PAH	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 991625	NM_000277.3(PAH):c.105A>G (p.Ile35Met)	PAH (I35M)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 991622	NM_000277.3(PAH):c.509+21G>T	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance
Select item 991621	NM_000277.3(PAH):c.538A>G (p.Met180Val)	PAH (M180V)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 991620	NM_000277.3(PAH):c.870T>C (p.His290=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 991619	NM_000277.3(PAH):c.970-10T>C	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance
Select item 991616	NM_000277.3(PAH):c.1120A>G (p.Ile374Val)	PAH (I374V)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 991615	NM_000277.3(PAH):c.1334G>T (p.Cys445Phe)	PAH (C445F)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance
Select item 987772	NM_000277.3(PAH):c.912+16T>A	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 987764	NM_000277.3(PAH):c.912+1G>C	LOC126861615, PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 987762	NM_000277.3(PAH):c.912+1G>T	LOC126861615, PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 984532	NM_000277.3(PAH):c.843-5T>C	LOC126861615, PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 975468	NM_000277.3(PAH):c.166del (p.Glu56fs)	PAH (E56fs)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 932267	NM_000277.3(PAH):c.896T>C (p.Phe299Ser)	LOC126861615, PAH (F299S)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 932255	NM_000277.3(PAH):c.871G>T (p.Val291Leu)	LOC126861615, PAH (V291L)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 815551	GRCh37/hg19 12q23.2(chr12:102929882-103248872)x3	PAH	Copy number gain	not provided	GUncertain significance
Select item 805826	NM_000277.3(PAH):c.903G>T (p.Gln301His)	LOC126861615, PAH (Q301H)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 805825	NM_000277.3(PAH):c.902A>C (p.Gln301Pro)	LOC126861615, PAH (Q301P)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 805824	NM_000277.3(PAH):c.901C>T (p.Gln301Ter)	LOC126861615, PAH (Q301*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 805823	NM_000277.3(PAH):c.890G>T (p.Arg297Leu)	LOC126861615, PAH (R297L)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 805822	NM_000277.3(PAH):c.886G>C (p.Asp296His)	LOC126861615, PAH (D296H)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 805807	NM_000277.3(PAH):c.868C>T (p.His290Tyr)	LOC126861615, PAH (H290Y)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 802888	NM_004316.4(ASCL1):c.121G>T (p.Ala41Ser)	ASCL1, PAH (A41S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 797163	NM_000277.3(PAH):c.894C>T (p.Ser298=)	PAH, LOC126861615	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 626282	NM_000277.3(PAH):c.875C>T (p.Pro292Leu)	LOC126861615, PAH (P292L)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 619164	NM_000277.3(PAH):c.859C>G (p.Leu287Val)	LOC126861615, PAH (L287V)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 597419	NM_004316.4(ASCL1):c.151CAG[4] (p.Gln55_Gln62del)	ASCL1, PAH	Microsatellite (inframe_deletion +1 more)	not specified	GLikely benign
Select item 578020	NM_000277.3(PAH):c.880T>A (p.Phe294Ile)	LOC126861615, PAH (F294I)	Single nucleotide variant (missense variant)	Phenylketonuria +1 more	GUncertain significance
Select item 558612	NM_000277.3(PAH):c.870T>G (p.His290Gln)	LOC126861615, PAH (H290Q)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 558132	NM_000277.3(PAH):c.910C>T (p.Gln304Ter)	LOC126861615, PAH (Q304*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 458082	NM_000277.3(PAH):c.865G>A (p.Gly289Arg)	PAH, LOC126861615 (G289R)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 379788	NM_000277.3(PAH):c.901C>A (p.Gln301Lys)	LOC126861615, PAH (Q301K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 306913	NM_000277.3(PAH):c.897T>C (p.Phe299=)	LOC126861615, PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GUncertain significance

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