9246[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 57584	GRCh38/hg38 12q15-21.31(chr12:70337484-81761145)x1	ACSS3, ATXN7L3B +163 more	Copy number loss	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 152482	GRCh38/hg38 12q21.2-21.31(chr12:76566873-82021089)x1	ACSS3, CSRP2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic
Select item 2308542	NM_003625.5(PPFIA2):c.3677C>A (p.Thr1226Asn)	PPFIA2 (T1205N +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217105	NM_003625.5(PPFIA2):c.3566A>G (p.Lys1189Arg)	PPFIA2 (K1036R +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325181	NM_003625.5(PPFIA2):c.3514A>G (p.Asn1172Asp)	PPFIA2 (N1157D +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624041	NM_003625.5(PPFIA2):c.3472A>G (p.Thr1158Ala)	PPFIA2 (T1005A +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790120	NM_003625.5(PPFIA2):c.3355G>A (p.Ala1119Thr)	PPFIA2 (A655T +8 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2266501	NM_003625.5(PPFIA2):c.3282A>C (p.Arg1094Ser)	PPFIA2 (R1088S +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309129	NM_003625.5(PPFIA2):c.2802A>C (p.Leu934Phe)	PPFIA2, PPFIA2-AS1 (L919F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791363	NM_003625.5(PPFIA2):c.2725-8_2725-5del	PPFIA2, PPFIA2-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2643199	NM_003625.5(PPFIA2):c.2604C>T (p.Leu868=)	PPFIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3217103	NM_003625.5(PPFIA2):c.2600A>G (p.Lys867Arg)	PPFIA2 (K714R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544800	NM_003625.5(PPFIA2):c.2563A>G (p.Thr855Ala)	PPFIA2 (T855A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602152	NM_003625.5(PPFIA2):c.2534G>A (p.Arg845Gln)	PPFIA2 (R62Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236190	NM_003625.5(PPFIA2):c.2434G>C (p.Gly812Arg)	PPFIA2 (G713R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466273	NM_003625.5(PPFIA2):c.2381A>G (p.Asn794Ser)	PPFIA2 (N361S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540829	NM_003625.5(PPFIA2):c.2267C>A (p.Ala756Glu)	PPFIA2 (A603E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475079	NM_003625.5(PPFIA2):c.2217G>A (p.Met739Ile)	PPFIA2 (M640I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217101	NM_003625.5(PPFIA2):c.2212C>T (p.Arg738Trp)	PPFIA2 (R305W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217100	NM_003625.5(PPFIA2):c.2165A>G (p.His722Arg)	PPFIA2 (H569R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217099	NM_003625.5(PPFIA2):c.2156C>T (p.Pro719Leu)	PPFIA2 (P286L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309124	NM_003625.5(PPFIA2):c.2143A>G (p.Ser715Gly)	PPFIA2 (S282G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309126	NM_003625.5(PPFIA2):c.2135C>T (p.Ser712Leu)	PPFIA2 (S613L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790121	NM_003625.5(PPFIA2):c.2082T>C (p.Asn694=)	PPFIA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3217098	NM_003625.5(PPFIA2):c.1943C>T (p.Thr648Met)	PPFIA2 (T549M +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309122	NM_003625.5(PPFIA2):c.1927C>T (p.His643Tyr)	PPFIA2 (H569Y +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212727	NM_003625.5(PPFIA2):c.1889C>T (p.Thr630Ile)	PPFIA2 (T477I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209696	NM_003625.5(PPFIA2):c.1881C>A (p.Asp627Glu)	PPFIA2 (D474E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255300	NM_003625.5(PPFIA2):c.1837C>G (p.Pro613Ala)	PPFIA2 (P180A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546864	NM_003625.5(PPFIA2):c.1808C>T (p.Thr603Ile)	PPFIA2 (T170I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526491	NM_003625.5(PPFIA2):c.1802A>C (p.Asn601Thr)	PPFIA2 (N502T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309127	NM_003625.5(PPFIA2):c.1768C>T (p.Pro590Ser)	PPFIA2 (P157S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309125	NM_003625.5(PPFIA2):c.1745G>T (p.Arg582Leu)	PPFIA2 (R564L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217097	NM_003625.5(PPFIA2):c.1720G>A (p.Val574Ile)	PPFIA2 (V421I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217096	NM_003625.5(PPFIA2):c.1667G>A (p.Arg556Gln)	PPFIA2 (R403Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462904	NM_003625.5(PPFIA2):c.1573C>G (p.Leu525Val)	PPFIA2 (L372V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279566	NM_003625.5(PPFIA2):c.1562A>G (p.Glu521Gly)	PPFIA2 (E368G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 762351	NM_003625.5(PPFIA2):c.1374T>C (p.Asn458=)	PPFIA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2258997	NM_003625.5(PPFIA2):c.1298G>A (p.Arg433His)	PPFIA2 (R359H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643200	NM_003625.5(PPFIA2):c.1267-8del	PPFIA2	Deletion (intron variant)	not provided	GBenign
Select item 2509621	NM_003625.5(PPFIA2):c.933T>A (p.Asp311Glu)	PPFIA2 (D158E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 798042	NM_003625.5(PPFIA2):c.929A>G (p.Lys310Arg)	PPFIA2 (K157R +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2286893	NM_003625.5(PPFIA2):c.910G>A (p.Glu304Lys)	PPFIA2 (E304K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309128	NM_003625.5(PPFIA2):c.904G>A (p.Glu302Lys)	PPFIA2 (E302K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410362	NM_003625.5(PPFIA2):c.890G>A (p.Arg297Gln)	PPFIA2 (R198Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309121	NM_003625.5(PPFIA2):c.809T>C (p.Ile270Thr)	PPFIA2 (I196T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309120	NM_003625.5(PPFIA2):c.782T>C (p.Ile261Thr)	PPFIA2 (I261T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1025548	NM_003625.5(PPFIA2):c.781A>G (p.Ile261Val)	PPFIA2 (I108V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3217107	NM_003625.5(PPFIA2):c.764G>A (p.Arg255His)	PPFIA2 (R181H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480258	NM_003625.5(PPFIA2):c.743G>T (p.Gly248Val)	PPFIA2 (G95V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217106	NM_003625.5(PPFIA2):c.707C>T (p.Ser236Phe)	PPFIA2 (S236F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315561	NM_003625.5(PPFIA2):c.703G>A (p.Gly235Arg)	PPFIA2 (G136R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745994	NM_003625.5(PPFIA2):c.465G>A (p.Thr155=)	PPFIA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3217104	NM_003625.5(PPFIA2):c.278C>T (p.Ala93Val)	PPFIA2 (A93V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341103	NM_003625.5(PPFIA2):c.266C>G (p.Thr89Arg)	PPFIA2 (T89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643201	NM_003625.5(PPFIA2):c.256G>A (p.Glu86Lys)	PPFIA2 (E86K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3217102	NM_003625.5(PPFIA2):c.251A>G (p.Asp84Gly)	PPFIA2 (D84G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233722	NM_003625.5(PPFIA2):c.215C>T (p.Ser72Leu)	PPFIA2 (S72L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371460	NM_003625.5(PPFIA2):c.143C>G (p.Thr48Ser)	PPFIA2 (T48S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403688	NM_003625.5(PPFIA2):c.130C>T (p.Arg44Cys)	PPFIA2 (R44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607386	NM_003625.5(PPFIA2):c.55G>C (p.Gly19Arg)	PPFIA2 (G19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485572	NM_003625.5(PPFIA2):c.40C>G (p.Pro14Ala)	PPFIA2 (P14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063254	GRCh37/hg19 12q21.1-21.31(chr12:73466055-82398026)x1	ACSS3, ATXN7L3B +23 more	Copy number loss	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 3027393	GRCh37/hg19 12q21.31(chr12:82070570-82070623)x1	PPFIA2	Copy number loss	not provided	GUncertain significance
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 815539	GRCh37/hg19 12q21.2-21.31(chr12:79302790-82128250)x1	OTOGL, ACSS3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 689025	GRCh37/hg19 12q21.31(chr12:81327644-82029969)x1	ACSS3, LIN7A +1 more	Copy number loss	not provided	GUncertain significance
Select item 688721	GRCh37/hg19 12q21.31(chr12:81733516-81785112)x3	PPFIA2	Copy number gain	not provided	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 685899	GRCh37/hg19 12q21.31(chr12:81643220-81734161)x1	ACSS3, PPFIA2	Copy number loss	not provided	GUncertain significance
Select item 685239	GRCh37/hg19 12q21.31(chr12:82093845-82205711)x1	PPFIA2	Copy number loss	not provided	GUncertain significance
Select item 563970	GRCh37/hg19 12q21.31(chr12:81666797-82808748)x3	METTL25, PPFIA2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 79