"Ambry Genetics"[submitter] AND "PAF1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2612565	NM_019088.4(PAF1):c.13A>G (p.Ile5Val)	PAF1 (I5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 20