"Ambry Genetics"[submitter] AND "PRKDC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2453356	NM_006904.7(PRKDC):c.12371G>T (p.Trp4124Leu)	PRKDC (W4093L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310192	NM_006904.7(PRKDC):c.12365A>G (p.Glu4122Gly)	PRKDC (E4091G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756792	NM_006904.7(PRKDC):c.12363G>C (p.Trp4121Cys)	PRKDC (W4090C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756780	NM_006904.7(PRKDC):c.12362G>C (p.Trp4121Ser)	PRKDC (W4090S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756584	NM_006904.7(PRKDC):c.12357A>T (p.Arg4119Ser)	PRKDC (R4119S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453365	NM_006904.7(PRKDC):c.12352G>C (p.Gly4118Arg)	PRKDC (G4118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453335	NM_006904.7(PRKDC):c.12350T>A (p.Leu4117His)	PRKDC (L4117H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 852672	NM_006904.7(PRKDC):c.12343A>G (p.Asn4115Asp)	PRKDC (N4115D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1756305	NM_006904.7(PRKDC):c.12340C>T (p.Pro4114Ser)	PRKDC (P4083S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1756002	NM_006904.7(PRKDC):c.12333A>G (p.Ala4111=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2449862	NM_006904.7(PRKDC):c.12313A>C (p.Lys4105Gln)	PRKDC (K4105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1755327	NM_006904.7(PRKDC):c.12308A>G (p.Gln4103Arg)	PRKDC (Q4103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1754230	NM_006904.7(PRKDC):c.12262A>G (p.Asn4088Asp)	PRKDC (N4088D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1753733	NM_006904.7(PRKDC):c.12240G>T (p.Val4080=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1753078	NM_006904.7(PRKDC):c.12218C>T (p.Ala4073Val)	PRKDC (A4073V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1753064	NM_006904.7(PRKDC):c.12214C>T (p.Pro4072Ser)	PRKDC (P4072S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1753061	NM_006904.7(PRKDC):c.12213C>T (p.Ala4071=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1753054	NM_006904.7(PRKDC):c.12213C>G (p.Ala4071=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225734	NM_006904.7(PRKDC):c.12199G>C (p.Gly4067Arg)	PRKDC (G4036R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1752344	NM_006904.7(PRKDC):c.12195C>G (p.Leu4065=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1751587	NM_006904.7(PRKDC):c.12163A>G (p.Asn4055Asp)	PRKDC (N4024D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626359	NM_006904.7(PRKDC):c.12119C>T (p.Pro4040Leu)	PRKDC (P4009L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1750411	NM_006904.7(PRKDC):c.12118C>A (p.Pro4040Thr)	PRKDC (P4040T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225733	NM_006904.7(PRKDC):c.12108A>G (p.Lys4036=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1749423	NM_006904.7(PRKDC):c.12098T>G (p.Val4033Gly)	PRKDC (V4033G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1749414	NM_006904.7(PRKDC):c.12094A>G (p.Asn4032Asp)	PRKDC (N4001D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1749395	NM_006904.7(PRKDC):c.12090A>G (p.Glu4030=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1749186	NM_006904.7(PRKDC):c.12089A>G (p.Glu4030Gly)	PRKDC (E3999G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1497737	NM_006904.7(PRKDC):c.12073G>A (p.Gly4025Arg)	PRKDC (G3994R +1 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 1748985	NM_006904.7(PRKDC):c.12070G>A (p.Gly4024Arg)	PRKDC (G3993R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2560681	NM_006904.7(PRKDC):c.12068A>G (p.Lys4023Arg)	PRKDC (K3992R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561910	NM_006904.7(PRKDC):c.12066A>G (p.Lys4022=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564563	NM_006904.7(PRKDC):c.12064A>C (p.Lys4022Gln)	PRKDC (K3991Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1748753	NM_006904.7(PRKDC):c.12064A>G (p.Lys4022Glu)	PRKDC (K4022E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225731	NM_006904.7(PRKDC):c.12057A>G (p.Lys4019=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1747301	NM_006904.7(PRKDC):c.12006G>A (p.Met4002Ile)	PRKDC (M3971I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 961473	NM_006904.7(PRKDC):c.11998A>G (p.Asn4000Asp)	PRKDC (N3969D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1746470	NM_006904.7(PRKDC):c.11988C>G (p.Gly3996=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746466	NM_006904.7(PRKDC):c.11986G>A (p.Gly3996Ser)	PRKDC (G3996S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746175	NM_006904.7(PRKDC):c.11973C>T (p.Phe3991=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3310164	NM_006904.7(PRKDC):c.11969C>T (p.Ala3990Val)	PRKDC (A3990V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745982	NM_006904.7(PRKDC):c.11967G>T (p.Arg3989=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745965	NM_006904.7(PRKDC):c.11966G>A (p.Arg3989Gln)	PRKDC (R3989Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225730	NM_006904.7(PRKDC):c.11964C>T (p.Leu3988=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745747	NM_006904.7(PRKDC):c.11952G>T (p.Met3984Ile)	PRKDC (M3953I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745379	NM_006904.7(PRKDC):c.11934C>T (p.Gly3978=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564553	NM_006904.7(PRKDC):c.11927A>T (p.Glu3976Val)	PRKDC (E3976V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1744862	NM_006904.7(PRKDC):c.11919A>C (p.Pro3973=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1620318	NM_006904.7(PRKDC):c.11919A>G (p.Pro3973=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1744683	NM_006904.7(PRKDC):c.11905A>G (p.Asn3969Asp)	PRKDC (N3938D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1744671	NM_006904.7(PRKDC):c.11900T>G (p.Phe3967Cys)	PRKDC (F3936C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1743877	NM_006904.7(PRKDC):c.11880T>C (p.Pro3960=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1743084	NM_006904.7(PRKDC):c.11854T>G (p.Phe3952Val)	PRKDC (F3952V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497389	NM_006904.7(PRKDC):c.11843C>G (p.Ser3948Cys)	PRKDC (S3917C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453177	NM_006904.7(PRKDC):c.11843C>T (p.Ser3948Phe)	PRKDC (S3948F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1742436	NM_006904.7(PRKDC):c.11828G>A (p.Gly3943Glu)	PRKDC (G3943E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225727	NM_006904.7(PRKDC):c.11827G>T (p.Gly3943Trp)	PRKDC (G3912W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225726	NM_006904.7(PRKDC):c.11824T>G (p.Phe3942Val)	PRKDC (F3911V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497412	NM_006904.7(PRKDC):c.11792C>T (p.Ala3931Val)	PRKDC (A3900V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624564	NM_006904.7(PRKDC):c.11790G>A (p.Val3930=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1741168	NM_006904.7(PRKDC):c.11787G>A (p.Met3929Ile)	PRKDC (M3898I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310094	NM_006904.7(PRKDC):c.11783T>C (p.Phe3928Ser)	PRKDC (F3897S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225724	NM_006904.7(PRKDC):c.11779A>G (p.Asn3927Asp)	PRKDC (N3896D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449887	NM_006904.7(PRKDC):c.11759T>G (p.Ile3920Ser)	PRKDC (I3920S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1740460	NM_006904.7(PRKDC):c.11759T>C (p.Ile3920Thr)	PRKDC (I3920T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1740455	NM_006904.7(PRKDC):c.11756G>A (p.Gly3919Glu)	PRKDC (G3919E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1740444	NM_006904.7(PRKDC):c.11751C>G (p.Ile3917Met)	PRKDC (I3917M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1740244	NM_006904.7(PRKDC):c.11742C>T (p.Ser3914=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3225723	NM_006904.7(PRKDC):c.11714C>T (p.Ala3905Val)	PRKDC (A3874V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449835	NM_006904.7(PRKDC):c.11705C>G (p.Ser3902Cys)	PRKDC (S3871C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225722	NM_006904.7(PRKDC):c.11700C>T (p.Leu3900=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1738652	NM_006904.7(PRKDC):c.11688T>C (p.Ala3896=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1107801	NM_006904.7(PRKDC):c.11685G>A (p.Glu3895=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2453240	NM_006904.7(PRKDC):c.11666G>A (p.Arg3889Lys)	PRKDC (R3889K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3225721	NM_006904.7(PRKDC):c.11655G>A (p.Arg3885=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225720	NM_006904.7(PRKDC):c.11650A>G (p.Lys3884Glu)	PRKDC (K3853E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1737358	NM_006904.7(PRKDC):c.11630A>C (p.Lys3877Thr)	PRKDC (K3877T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225719	NM_006904.7(PRKDC):c.11581G>A (p.Gly3861Ser)	PRKDC (G3830S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453236	NM_006904.7(PRKDC):c.11581G>T (p.Gly3861Cys)	PRKDC (G3830C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310052	NM_006904.7(PRKDC):c.11580G>A (p.Lys3860=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1734066	NM_006904.7(PRKDC):c.11513A>C (p.Glu3838Ala)	PRKDC (E3807A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1733897	NM_006904.7(PRKDC):c.11506C>T (p.Pro3836Ser)	PRKDC (P3805S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1733865	NM_006904.7(PRKDC):c.11503C>T (p.Pro3835Ser)	PRKDC (P3804S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225718	NM_006904.7(PRKDC):c.11494C>T (p.Pro3832Ser)	PRKDC (P3801S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1733185	NM_006904.7(PRKDC):c.11494C>G (p.Pro3832Ala)	PRKDC (P3832A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1602887	NM_006904.7(PRKDC):c.11478G>A (p.Ala3826=)	PRKDC	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 3310143	NM_006904.7(PRKDC):c.11475G>A (p.Lys3825=)	PRKDC	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1732776	NM_006904.7(PRKDC):c.11473A>G (p.Lys3825Glu)	PRKDC (K3825E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1732463	NM_006904.7(PRKDC):c.11465A>C (p.Gln3822Pro)	PRKDC (Q3822P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1732453	NM_006904.7(PRKDC):c.11462C>T (p.Ser3821Phe)	PRKDC (S3821F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218847	NM_006904.7(PRKDC):c.11452A>G (p.Asn3818Asp)	PRKDC (N3818D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1731342	NM_006904.7(PRKDC):c.11414G>C (p.Trp3805Ser)	PRKDC (W3805S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1729918	NM_006904.7(PRKDC):c.11378T>C (p.Val3793Ala)	PRKDC (V3793A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 2497391	NM_006904.7(PRKDC):c.11369C>G (p.Thr3790Ser)	PRKDC (T3790S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2452970	NM_006904.7(PRKDC):c.11369C>T (p.Thr3790Ile)	PRKDC (T3790I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1729457	NM_006904.7(PRKDC):c.11352G>A (p.Arg3784=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GLikely benign
Select item 1729455	NM_006904.7(PRKDC):c.11351G>A (p.Arg3784Lys)	PRKDC (R3784K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1728929	NM_006904.7(PRKDC):c.11336C>T (p.Ser3779Phe)	PRKDC (S3779F)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1107352	NM_006904.7(PRKDC):c.11322C>T (p.Ile3774=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3310173	NM_006904.7(PRKDC):c.11292G>A (p.Val3764=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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