ClinVar (all) for Orgtrack (Select 500285) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208199	NM_172250.3(MMAA):c.370C>T (p.Gln124Ter)	MMAA (Q124*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblB type	Gnot provided
Select item 208198	NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1])	MMAB, MVK	Microsatellite (inframe_deletion +1 more)	Methylmalonic aciduria, cblB type	GUncertain significance
Select item 208197	NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)	MMACHC	Deletion (inframe_deletion)	Disorders of Intracellular Cobalamin Metabolism +1 more	GConflicting classifications of pathogenicity
Select item 208196	NM_005957.5(MTHFR):c.197C>T (p.Pro66Leu)	MTHFR (P66L +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Gnot provided
Select item 208195	NM_005957.5(MTHFR):c.1611T>A (p.Asn537Lys)	MTHFR (N537K +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Gnot provided
Select item 208194	NM_005957.5(MTHFR):c.1606G>A (p.Val536Ile)	MTHFR (V536I +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	Gnot provided
Select item 208193	NM_005956.4(MTHFD1):c.826G>C (p.Gly276Arg)	MTHFD1 (G276R)	Single nucleotide variant (missense variant)	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	GPathogenic
Select item 208192	NM_005142.3(CBLIF):c.432GAA[1] (p.Lys145del)	CBLIF (K145del)	Microsatellite (inframe_deletion)	Hereditary intrinsic factor deficiency	GLikely benign
Select item 208191	NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter)	CBLIF (Q116*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 208190	NM_005142.2(CBLIF):c.-376A>T	CBLIF	Single nucleotide variant	Hereditary intrinsic factor deficiency	Gnot provided
Select item 208189	NM_001330311.2(DVL1):c.1507+1_1508-1del	DVL1	Deletion (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 208188	NM_001713.3(BHMT):c.1200del (p.Lys400fs)	BHMT (K400fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 208187	NM_001081.4(CUBN):c.1000C>T (p.Gln334Ter)	CUBN (Q334*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome	Gnot provided
Select item 208186	NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr)	SLC6A19 (C49Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 208185	NM_000783.4(CYP26A1):c.905A>G (p.His302Arg)	CYP26A1 (H302R +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 208183	NM_000355.4(TCN2):c.626C>G (p.Ser209Ter)	TCN2 (S209* +1 more)	Single nucleotide variant (nonsense)	Transcobalamin II deficiency	Gnot provided
Select item 208182	NM_000277.3(PAH):c.895T>C (p.Phe299Leu)	LOC126861615, PAH (F299L)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 208181	NM_000277.3(PAH):c.836C>T (p.Pro279Leu)	PAH (P279L)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic
Select item 208180	NM_000277.3(PAH):c.242C>A (p.Thr81Asn)	PAH (T81N)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 208179	NM_000277.3(PAH):c.1025C>A (p.Ala342Glu)	PAH (A342E)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 208178	NM_000168.6(GLI3):c.1812+3A>T	GLI3	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 208177	NM_000071.3(CBS):c.362G>T (p.Arg121Leu)	CBS (R121L +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
Select item 203827	NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)	MMACHC (W140* +1 more)	Single nucleotide variant (nonsense)	Cobalamin C disease	GPathogenic
Select item 133314	NM_000277.3(PAH):c.781C>G (p.Arg261Gly)	PAH (R261G)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 125436	NM_000277.3(PAH):c.505C>T (p.Arg169Cys)	PAH (R169C)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120310	NM_000277.3(PAH):c.155del (p.Leu52fs)	PAH (L52fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120298	NM_000277.3(PAH):c.970-1G>A	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120297	NM_000277.3(PAH):c.931_932del (p.Leu311fs)	PAH (L311fs)	Microsatellite (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120296	NM_000277.3(PAH):c.916del (p.Ile306fs)	PAH (I306fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120295	NM_000277.3(PAH):c.913-8A>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120294	NM_000277.3(PAH):c.913-3C>G	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120293	NM_000277.3(PAH):c.912+3A>C	PAH, LOC126861615	Single nucleotide variant (intron variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120292	NM_000277.3(PAH):c.912+2T>C	LOC126861615, PAH	Single nucleotide variant (splice donor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120291	NM_000277.3(PAH):c.887A>G (p.Asp296Gly)	LOC126861615, PAH (D296G)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120290	NM_000277.3(PAH):c.869A>T (p.His290Leu)	LOC126861615, PAH (H290L)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120289	NM_000277.3(PAH):c.841C>G (p.Pro281Ala)	PAH (P281A)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic
Select item 120288	NM_000277.3(PAH):c.837del (p.Glu280fs)	PAH (E280fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120287	NM_000277.3(PAH):c.812A>T (p.His271Leu)	PAH (H271L)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120286	NM_000277.3(PAH):c.796A>C (p.Thr266Pro)	PAH (T266P)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120285	NM_000277.3(PAH):c.785T>G (p.Val262Gly)	PAH (V262G)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120284	NM_000277.3(PAH):c.682G>A (p.Glu228Lys)	PAH (E228K)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120283	NM_000277.3(PAH):c.632C>T (p.Pro211Leu)	PAH (P211L)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 120282	NM_000277.3(PAH):c.612T>C (p.Tyr204=)	PAH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 120281	NM_000277.3(PAH):c.60+5G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic
Select item 120280	NM_000277.3(PAH):c.591G>C (p.Leu197Phe)	PAH (L197F)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120279	NM_000277.3(PAH):c.568G>A (p.Val190Met)	PAH (V190M)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120278	NM_000277.3(PAH):c.547_548delinsTT (p.Glu183Leu)	PAH (E183L)	Indel (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120277	NM_000277.3(PAH):c.504C>A (p.Tyr168Ter)	PAH (Y168*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120276	NM_000277.3(PAH):c.442-2A>C	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120275	NM_000277.3(PAH):c.441+6T>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120274	NM_000277.3(PAH):c.350del (p.Thr117fs)	PAH (T117fs)	Deletion (frameshift variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120273	NM_000277.3(PAH):c.350C>T (p.Thr117Ile)	PAH (T117I)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120272	NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr)	PAH (I95T)	Indel (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120271	NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer)	PAH	Duplication (inframe_insertion)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120270	NM_000277.3(PAH):c.196G>T (p.Glu66Ter)	PAH (E66*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120269	NM_000277.3(PAH):c.183C>A (p.Asn61Lys)	PAH (N61K)	Single nucleotide variant (missense variant)	Phenylketonuria	GPathogenic/Likely pathogenic
Select item 120268	NM_000277.3(PAH):c.169G>T (p.Glu57Ter)	PAH (E57*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120267	NM_000277.3(PAH):c.169-42T>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 120266	NM_000277.3(PAH):c.164T>C (p.Phe55Ser)	PAH (F55S)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120265	NM_000277.3(PAH):c.1240T>C (p.Tyr414His)	PAH (Y414H)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120264	NM_000277.3(PAH):c.1199+70G>A	PAH	Single nucleotide variant (intron variant)	Phenylketonuria	GLikely benign
Select item 120263	NM_000277.3(PAH):c.1196T>C (p.Val399Ala)	PAH (V399A)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120262	NM_000277.3(PAH):c.1180G>T (p.Asp394Tyr)	PAH (D394Y)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120261	NM_000277.3(PAH):c.1171A>G (p.Ser391Gly)	PAH (S391G)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 120260	NM_000277.3(PAH):c.1163T>C (p.Val388Ala)	PAH (V388A)	Single nucleotide variant (missense variant)	Phenylketonuria	GLikely pathogenic FDA Recognized database
Select item 120259	NM_000277.3(PAH):c.1152C>G (p.Pro384=)	PAH	Single nucleotide variant (synonymous variant)	Phenylketonuria	GLikely benign
Select item 120258	NM_000277.3(PAH):c.1066-2A>T	PAH	Single nucleotide variant (splice acceptor variant)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 120257	NM_000277.3(PAH):c.1004A>C (p.Lys335Thr)	PAH (K335T)	Single nucleotide variant (missense variant)	Phenylketonuria	GUncertain significance FDA Recognized database
Select item 56759	NM_030943.4(AMN):c.742C>T (p.Gln248Ter)	AMN (Q248*)	Single nucleotide variant (nonsense)	Imerslund-Grasbeck syndrome	GPathogenic
Select item 56751	NM_030943.4(AMN):c.208-2A>G	AMN, CDC42BPB +1 more	Single nucleotide variant (splice acceptor variant)	Imerslund-Grasbeck syndrome type 2 +2 more	GPathogenic
Select item 96	NM_000355.4(TCN2):c.927_930del (p.Cys309fs)	TCN2 (C282fs +1 more)	Deletion (frameshift variant)	Transcobalamin II deficiency	GPathogenic

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Items: 71