PPFIA4[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC122149345, LOC122149346 +166 more	Copy number loss	See cases	GPathogenic
Select item 730530	NM_001304331.2(PPFIA4):c.249A>G (p.Leu83=)	PPFIA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2639813	NM_001304331.2(PPFIA4):c.406C>T (p.Arg136Cys)	PPFIA4 (R136C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3309138	NM_001304331.2(PPFIA4):c.1541G>A (p.Arg514Gln)	PPFIA4 (R448Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309143	NM_001304331.2(PPFIA4):c.1586G>A (p.Arg529His)	PPFIA4 (R440H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309142	NM_001304331.2(PPFIA4):c.1634C>T (p.Ser545Phe)	PPFIA4 (S536F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217119	NM_001304331.2(PPFIA4):c.1634C>G (p.Ser545Cys)	PPFIA4 (S500C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393832	NM_001304331.2(PPFIA4):c.1687C>T (p.Pro563Ser)	PPFIA4 (P563S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217122	NM_001304331.2(PPFIA4):c.1699G>A (p.Asp567Asn)	PPFIA4 (D558N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217125	NM_001304331.2(PPFIA4):c.1739C>T (p.Ala580Val)	PPFIA4 (A535V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389132	NM_001304331.2(PPFIA4):c.1753C>G (p.Pro585Ala)	PPFIA4 (P519A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478083	NM_001304331.2(PPFIA4):c.1792C>A (p.Leu598Met)	PPFIA4 (L509M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223272	NM_001304331.2(PPFIA4):c.1856C>T (p.Thr619Met)	PPFIA4 (T553M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217126	NM_001304331.2(PPFIA4):c.1885C>T (p.Arg629Cys)	PPFIA4 (R540C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263921	NM_001304331.2(PPFIA4):c.1913T>G (p.Leu638Arg)	PPFIA4 (L593R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217127	NM_001304331.2(PPFIA4):c.1933A>G (p.Lys645Glu)	PPFIA4 (K579E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301197	NM_001304331.2(PPFIA4):c.1952C>A (p.Thr651Asn)	PPFIA4 (T642N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364708	NM_001304331.2(PPFIA4):c.2026C>T (p.Arg676Cys)	PPFIA4 (R587C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551278	NM_001304331.2(PPFIA4):c.2027G>T (p.Arg676Leu)	PPFIA4 (R631L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282588	NM_001304331.2(PPFIA4):c.2039A>G (p.Gln680Arg)	PPFIA4 (Q680R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217128	NM_001304331.2(PPFIA4):c.2099A>G (p.Lys700Arg)	PPFIA4 (K679R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217129	NM_001304331.2(PPFIA4):c.2218C>G (p.Leu740Val)	PPFIA4 (L651V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533869	NM_001304331.2(PPFIA4):c.2342G>A (p.Arg781His)	PPFIA4 (R715H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309137	NM_001304331.2(PPFIA4):c.2396C>T (p.Ala799Val)	PPFIA4 (A733V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309139	NM_001304331.2(PPFIA4):c.2434A>G (p.Met812Val)	PPFIA4 (M767V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379724	NM_001304331.2(PPFIA4):c.2645C>T (p.Ala882Val)	PPFIA4 (A882V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217118	NM_001304331.2(PPFIA4):c.2656G>A (p.Ala886Thr)	PPFIA4 (A820T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466960	NM_001304331.2(PPFIA4):c.2797G>A (p.Val933Ile)	PPFIA4 (V888I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309141	NM_001304331.2(PPFIA4):c.2818A>T (p.Met940Leu)	PPFIA4 (M919L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552532	NM_001304331.2(PPFIA4):c.2908A>T (p.Ile970Phe)	PPFIA4 (I925F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302701	NM_001304331.2(PPFIA4):c.2942C>T (p.Pro981Leu)	PPFIA4 (P892L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309140	NM_001304331.2(PPFIA4):c.2951G>A (p.Arg984His)	PPFIA4 (R963H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217120	NM_001304331.2(PPFIA4):c.3016C>T (p.Arg1006Trp)	PPFIA4 (R961W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639814	NM_001304331.2(PPFIA4):c.3050+8C>T	PPFIA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2475241	NM_001304331.2(PPFIA4):c.3065A>G (p.Tyr1022Cys)	PPFIA4 (Y1013C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217121	NM_001304331.2(PPFIA4):c.3174G>T (p.Gln1058His)	PPFIA4 (Q1013H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602436	NM_001304331.2(PPFIA4):c.3274G>A (p.Asp1092Asn)	PPFIA4 (D1047N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743493	NM_001304331.2(PPFIA4):c.3360G>A (p.Leu1120=)	PPFIA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2548052	NM_001304331.2(PPFIA4):c.3392A>G (p.Asp1131Gly)	PPFIA4 (D1056G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217123	NM_001304331.2(PPFIA4):c.3443G>A (p.Arg1148Gln)	PPFIA4 (R1082Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305519	NM_001304331.2(PPFIA4):c.3478A>T (p.Ser1160Cys)	PPFIA4 (S1094C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217124	NM_001304331.2(PPFIA4):c.3503C>T (p.Ala1168Val)	PPFIA4 (A1079V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309136	NM_001304331.2(PPFIA4):c.3554C>T (p.Pro1185Leu)	PPFIA4 (P1096L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	CFHR5, CHI3L1 +185 more	Deletion	not provided	GPathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	C4BPA, FMOD +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1809047	GRCh37/hg19 1q32.1(chr1:203024864-203078150)x1	MYOG, PPFIA4	Copy number loss	not provided	GUncertain significance
Select item 1808097	GRCh37/hg19 1q32.1(chr1:203023384-203078150)x1	MYOG, PPFIA4	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565213	GRCh37/hg19 1q32.1(chr1:202789375-203058390)x3	RABIF, MYOG +5 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	EGLN1, EIF2D +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 61