PAAF1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58165	GRCh38/hg38 11q13.4(chr11:73403238-73935284)x3	COA4, FAM168A +20 more	Copy number gain	See cases	GUncertain significance
Select item 144545	GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3	C2CD3, COA4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58182	GRCh38/hg38 11q13.4(chr11:73647348-73927680)x3	COA4, LOC116216151 +15 more	Copy number gain	See cases	GUncertain significance
Select item 152835	GRCh38/hg38 11q13.4(chr11:73859172-73977160)x3	COA4, DNAJB13 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2401045	NM_025155.3(PAAF1):c.91A>G (p.Lys31Glu)	PAAF1 (K31E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207785	NM_025155.3(PAAF1):c.127A>G (p.Ile43Val)	PAAF1 (I26V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531750	NM_025155.3(PAAF1):c.221A>G (p.Glu74Gly)	PAAF1 (E57G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642144	NM_025155.3(PAAF1):c.276A>G (p.Thr92=)	PAAF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2540483	NM_025155.3(PAAF1):c.350A>G (p.Lys117Arg)	PAAF1 (K117R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459175	NM_025155.3(PAAF1):c.442G>T (p.Val148Leu)	PAAF1 (V33L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293126	NM_025155.3(PAAF1):c.471G>C (p.Gln157His)	PAAF1 (Q140H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207786	NM_025155.3(PAAF1):c.521G>A (p.Gly174Asp)	PAAF1 (G174D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207787	NM_025155.3(PAAF1):c.553G>A (p.Val185Ile)	PAAF1 (V185I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484685	NM_025155.3(PAAF1):c.568A>T (p.Asn190Tyr)	PAAF1 (N173Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207788	NM_025155.3(PAAF1):c.602G>A (p.Arg201Gln)	PAAF1 (R201Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207789	NM_025155.3(PAAF1):c.620G>C (p.Arg207Pro)	PAAF1 (R190P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471190	NM_025155.3(PAAF1):c.620G>A (p.Arg207His)	PAAF1 (R208H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297668	NM_025155.3(PAAF1):c.844G>A (p.Ala282Thr)	PAAF1 (A282T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356193	NM_025155.3(PAAF1):c.941C>T (p.Pro314Leu)	PAAF1 (P199L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207790	NM_025155.3(PAAF1):c.947A>G (p.Gln316Arg)	PAAF1 (Q316R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207791	NM_025155.3(PAAF1):c.980C>A (p.Ser327Tyr)	PAAF1 (S310Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207783	NM_025155.3(PAAF1):c.1049A>T (p.Asp350Val)	PAAF1 (D333V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365843	NM_025155.3(PAAF1):c.1114G>C (p.Glu372Gln)	PAAF1 (E355Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618651	NM_025155.3(PAAF1):c.1129A>G (p.Thr377Ala)	PAAF1 (T262A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463050	NM_025155.3(PAAF1):c.1139G>A (p.Arg380Gln)	PAAF1 (R265Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388937	NM_025155.3(PAAF1):c.1156C>T (p.Arg386Cys)	PAAF1 (R271C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207784	NM_025155.3(PAAF1):c.1157G>A (p.Arg386His)	PAAF1 (R369H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 157207	NM_001267803.1(PAAF1):c.451_70114dup	DNAJB13, LOC130006402 +8 more	Duplication	Preeclampsia	Gnot provided
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527650	GRCh37/hg19 11q13.4(chr11:73444963-73777547)	C2CD3, COA4 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527649	GRCh37/hg19 11q13.4(chr11:73323208-73593392)	COA4, MRPL48 +3 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815440	GRCh37/hg19 11q13.4(chr11:73314584-73658201)x3	COA4, RAB6A +3 more	Copy number gain	not provided	GUncertain significance
Select item 686318	GRCh37/hg19 11q13.4(chr11:73395712-73788461)x3	C2CD3, COA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686083	GRCh37/hg19 11q13.4(chr11:73128157-73788461)x4	C2CD3, COA4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563850	GRCh37/hg19 11q13.4(chr11:73254213-73770541)x3	COA4, UCP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563843	GRCh37/hg19 11q13.4(chr11:73276899-73615810)x3	PLEKHB1, RAB6A +4 more	Copy number gain	not provided	GLikely benign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 395265	GRCh37/hg19 11q13.4(chr11:73570217-73687662)x3	COA4, DNAJB13 +3 more	Copy number gain	See cases	GLikely benign
Select item 394189	GRCh37/hg19 11q13.4(chr11:73197127-73712308)x3	UCP3, COA4 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 47