738[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 1290391	NM_001354304.2(PAH):c.-96+704del	ASCL1, PAH	Deletion (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 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 18332	NM_004316.4(ASCL1):c.52C>A (p.Pro18Thr)	ASCL1, PAH (P18T)	Single nucleotide variant (missense variant +1 more)	Congenital central hypoventilation	GUncertain significance
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 18333	NM_004316.4(ASCL1):c.114_128del (p.Ala43_Ala47del)	ASCL1, PAH	Deletion (inframe_deletion +1 more)	Congenital central hypoventilation	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 18334	NM_004316.4(ASCL1):c.111_134del (p.Ala40_Ala47del)	ASCL1, PAH	Deletion (inframe_deletion +1 more)	Haddad syndrome	GUncertain significance
Select item 802888	NM_004316.4(ASCL1):c.121G>T (p.Ala41Ser)	ASCL1, PAH (A41S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +1 more	GLikely benign
Select item 193279	NM_004316.4(ASCL1):c.123A>G (p.Ala41=)	ASCL1, PAH	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
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 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 227178	NM_004316.4(ASCL1):c.138A>T (p.Ala46=)	ASCL1, PAH	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
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 228442	NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln)	ASCL1, PAH	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 179579	NM_004316.4(ASCL1):c.151CAG[14] (p.Gln62_Ala63insGlnGln)	ASCL1, PAH	Microsatellite (inframe_insertion +1 more)	not specified	GBenign/Likely benign
Select item 179366	NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln)	ASCL1, PAH	Microsatellite (inframe_insertion +1 more)	not specified +2 more	GBenign
Select item 162757	NM_004316.4(ASCL1):c.151CAG[15] (p.Gln62_Ala63insGlnGlnGln)	ASCL1, PAH	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GBenign
Select item 162756	NM_004316.4(ASCL1):c.151CAG[17] (p.Gln62_Ala63insGlnGlnGlnGlnGln)	ASCL1, PAH	Microsatellite (inframe_insertion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 597419	NM_004316.4(ASCL1):c.151CAG[4] (p.Gln55_Gln62del)	ASCL1, PAH	Microsatellite (inframe_deletion +1 more)	not specified	GLikely benign
Select item 259285	NM_004316.4(ASCL1):c.151CAG[9] (p.Gln60_Gln62del)	ASCL1, PAH	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign
Select item 259284	NM_004316.4(ASCL1):c.151CAG[8] (p.Gln59_Gln62del)	ASCL1, PAH	Microsatellite (inframe_deletion +2 more)	Phenylketonuria +1 more	GLikely benign
Select item 227179	NM_004316.4(ASCL1):c.151CAG[11] (p.Gln62del)	ASCL1, PAH (Q62del)	Microsatellite (inframe_deletion +1 more)	not specified	GLikely benign
Select item 193277	NM_004316.4(ASCL1):c.151CAG[7] (p.Gln58_Gln62del)	ASCL1, PAH	Microsatellite (inframe_deletion +1 more)	not specified +1 more	GLikely benign
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 2558303	NM_004316.4(ASCL1):c.200G>T (p.Arg67Ile)	ASCL1 (R67I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218022	NM_004316.4(ASCL1):c.206C>T (p.Ala69Val)	ASCL1 (A69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540946	NM_004316.4(ASCL1):c.245C>A (p.Ala82Glu)	ASCL1 (A82E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271007	NM_004316.4(ASCL1):c.291G>A (p.Met97Ile)	ASCL1 (M97I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616464	NM_004316.4(ASCL1):c.416C>T (p.Ala139Val)	ASCL1 (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130273	NM_004316.4(ASCL1):c.525C>A (p.Asp175Glu)	ASCL1 (D175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130274	NM_004316.4(ASCL1):c.583C>T (p.Pro195Ser)	ASCL1 (P195S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 162758	NM_004316.4(ASCL1):c.627C>G (p.Val209=)	ASCL1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3244235	NC_000012.11:g.(?_103232953)_(103352733_?)del	ASCL1, PAH	Deletion	Phenylketonuria	GPathogenic
Select item 2422790	NC_000012.11:g.(?_103288493)_(103352733_?)dup	ASCL1, PAH	Duplication	Phenylketonuria	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 688485	GRCh37/hg19 12q23.2(chr12:103318822-103751173)x3	ASCL1, C12orf42	Copy number gain	not provided	GUncertain significance
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 45