PAF1[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2237472	NM_019088.4(PAF1):c.1540G>A (p.Asp514Asn)	PAF1, SAMD4B (D514N)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2470952	NM_019088.4(PAF1):c.1499C>G (p.Ala500Gly)	PAF1, SAMD4B (A500G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618151	NM_019088.4(PAF1):c.1465G>A (p.Gly489Ser)	PAF1, SAMD4B (G489S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3064783	NM_019088.4(PAF1):c.1445C>T (p.Ser482Leu)	PAF1, SAMD4B (Q411* +1 more)	Single nucleotide variant (nonsense +2 more)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 2476567	NM_019088.4(PAF1):c.1432A>G (p.Ser478Gly)	PAF1, SAMD4B (S478G)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2481318	NM_019088.4(PAF1):c.1423C>G (p.Gln475Glu)	PAF1, SAMD4B (Q475E)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3303934	NM_019088.4(PAF1):c.1419G>C (p.Gln473His)	PAF1, SAMD4B (Q473H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207994	NM_019088.4(PAF1):c.1402G>C (p.Asp468His)	PAF1, SAMD4B (M396I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273726	NM_019088.4(PAF1):c.1316G>A (p.Ser439Asn)	PAF1, SAMD4B (S439N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2360351	NM_019088.4(PAF1):c.1241C>T (p.Ser414Leu)	PAF1, SAMD4B (S414L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407901	NM_019088.4(PAF1):c.1170A>C (p.Glu390Asp)	PAF1, SAMD4B (E380D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207993	NM_019088.4(PAF1):c.1168G>A (p.Glu390Lys)	PAF1, SAMD4B (E390K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1245904	NM_019088.4(PAF1):c.987-166A>G	PAF1, SAMD4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244822	NM_019088.4(PAF1):c.987-297A>G	SAMD4B, PAF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247004	NM_019088.4(PAF1):c.986+22G>C	PAF1, SAMD4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3303936	NM_019088.4(PAF1):c.953G>A (p.Gly318Asp)	PAF1, SAMD4B (G308D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303935	NM_019088.4(PAF1):c.911G>C (p.Ser304Thr)	PAF1, SAMD4B (S304T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207997	NM_019088.4(PAF1):c.869A>G (p.Lys290Arg)	PAF1, SAMD4B (K290R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1240530	NM_019088.4(PAF1):c.858-37G>A	PAF1, SAMD4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2522905	NM_019088.4(PAF1):c.845C>T (p.Ala282Val)	PAF1, SAMD4B (A282V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1253651	NM_019088.4(PAF1):c.568-8T>C	PAF1, SAMD4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288018	NM_019088.4(PAF1):c.372C>T (p.His124=)	PAF1, SAMD4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2649831	NM_019088.4(PAF1):c.322T>C (p.Leu108=)	PAF1, SAMD4B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2473025	NM_019088.4(PAF1):c.290A>G (p.Asn97Ser)	PAF1, SAMD4B (N87S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605101	NM_019088.4(PAF1):c.280A>C (p.Ile94Leu)	PAF1, SAMD4B (I94L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207996	NM_019088.4(PAF1):c.278G>T (p.Arg93Leu)	PAF1, SAMD4B (R93L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272323	NM_019088.4(PAF1):c.48-87_48-86insCTT	PAF1, SAMD4B	Insertion (intron variant)	not provided	GBenign
Select item 2618869	NM_019088.4(PAF1):c.40G>A (p.Gly14Ser)	PAF1 (G14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 591899	NM_019088.4(PAF1):c.28C>T (p.Gln10Ter)	PAF1 (Q10*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2612565	NM_019088.4(PAF1):c.13A>G (p.Ile5Val)	PAF1 (I5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 221542	GRCh37/hg19 19q13.2(chr19:39879621-39944079)x3	MED29, PAF1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 40