PAAF1[gene] and "single gene"[properties] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303844	NM_025155.3(PAAF1):c.40G>T (p.Ala14Ser)	PAAF1 (A14S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	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 3303846	NM_025155.3(PAAF1):c.505G>A (p.Val169Met)	PAAF1 (V170M +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 3303845	NM_025155.3(PAAF1):c.796T>G (p.Leu266Val)	PAAF1 (L249V +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

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Items: 26