ClinVar for MedGen (Select 863270) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023753	NM_006904.7(PRKDC):c.4689C>T (p.Phe1563=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3023654	NM_006904.7(PRKDC):c.5844C>T (p.Ala1948=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3023585	NM_006904.7(PRKDC):c.6466-18T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3023521	NM_006904.7(PRKDC):c.1113+7C>T	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3023294	NM_006904.7(PRKDC):c.7101G>T (p.Val2367=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3022546	NM_006904.7(PRKDC):c.11370C>T (p.Thr3790=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3020431	NM_006904.7(PRKDC):c.9922+7T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3018846	NM_006904.7(PRKDC):c.2419+15A>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3018845	NM_006904.7(PRKDC):c.4071+17A>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3018844	NM_006904.7(PRKDC):c.5068-19T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3017762	NM_006904.7(PRKDC):c.3364+18G>A	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3017127	NM_006904.7(PRKDC):c.3847+17T>G	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3016928	NM_006904.7(PRKDC):c.10298-18C>T	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3016485	NM_006904.7(PRKDC):c.10053C>T (p.Ile3351=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3016403	NM_006904.7(PRKDC):c.339T>C (p.Ser113=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3016242	NM_006904.7(PRKDC):c.4138G>T (p.Ala1380Ser)	PRKDC (A1380S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 3016105	NM_006904.7(PRKDC):c.3844C>G (p.Leu1282Val)	PRKDC (L1282V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 3015087	NM_006904.7(PRKDC):c.3615T>C (p.Asn1205=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3014009	NM_006904.7(PRKDC):c.231+10C>T	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3013199	NM_006904.7(PRKDC):c.7044A>G (p.Gln2348=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3011802	NM_006904.7(PRKDC):c.5750+15_5750+16insAG	PRKDC	Insertion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3011521	NM_006904.7(PRKDC):c.4011T>C (p.Val1337=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3009989	NM_006904.7(PRKDC):c.1221T>A (p.Val407=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3009439	NM_006904.7(PRKDC):c.8466A>G (p.Lys2822=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3008920	NM_006904.7(PRKDC):c.5920-16T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3008917	NM_006904.7(PRKDC):c.5571+10G>A	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3008641	NM_006904.7(PRKDC):c.10670+16G>A	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3006577	NM_006904.7(PRKDC):c.10752C>T (p.Leu3584=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3005934	NM_006904.7(PRKDC):c.6062G>T (p.Gly2021Val)	PRKDC (G2021V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 3004606	NM_006904.7(PRKDC):c.1447+10C>T	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3004605	NM_006904.7(PRKDC):c.1447+11_1447+12insTTTATTGTATTTATGAGT	PRKDC	Insertion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3003590	NM_006904.7(PRKDC):c.9112-19A>G	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 3001060	NM_006904.7(PRKDC):c.5750+17_5750+21del	PRKDC	Deletion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2999356	NM_006904.7(PRKDC):c.9443A>G (p.Gln3148Arg)	PRKDC (Q3148R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2997497	NM_006904.7(PRKDC):c.9083A>G (p.Asn3028Ser)	PRKDC (N3028S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2995903	NM_006904.7(PRKDC):c.10903-15T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2995018	NM_006904.7(PRKDC):c.2053-15T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2994754	NM_006904.7(PRKDC):c.10575C>T (p.Tyr3525=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2994679	NM_006904.7(PRKDC):c.9806G>A (p.Arg3269Lys)	PRKDC (R3269K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2991061	NM_006904.7(PRKDC):c.9153G>A (p.Leu3051=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2990892	NM_006904.7(PRKDC):c.62C>T (p.Ala21Val)	LOC129929030, PRKDC (A21V)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2983347	NM_006904.7(PRKDC):c.12150G>A (p.Lys4050=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2981632	NM_006904.7(PRKDC):c.10863G>A (p.Lys3621=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2981015	NM_006904.7(PRKDC):c.8398-10T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2979506	NM_006904.7(PRKDC):c.5340C>T (p.Ser1780=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2978301	NM_006904.7(PRKDC):c.4038G>A (p.Thr1346=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2978117	NM_006904.7(PRKDC):c.509-20G>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2975506	NM_006904.7(PRKDC):c.5986-20T>G	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2971997	NM_006904.7(PRKDC):c.5236-11A>G	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2967340	NM_006904.7(PRKDC):c.1447+17T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2966531	NM_006904.7(PRKDC):c.4053C>G (p.Thr1351=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2965153	NM_006904.7(PRKDC):c.4697C>T (p.Thr1566Met)	PRKDC (T1566M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2963455	NM_006904.7(PRKDC):c.7344A>G (p.Pro2448=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2963437	NM_006904.7(PRKDC):c.8004C>A (p.Val2668=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2963062	NM_006904.7(PRKDC):c.11490-13del	PRKDC	Deletion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GBenign
Select item 2962581	NM_006904.7(PRKDC):c.10570A>G (p.Asn3524Asp)	PRKDC (N3524D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2961366	NM_006904.7(PRKDC):c.6058+17_6058+20del	PRKDC	Deletion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2961229	NM_006904.7(PRKDC):c.11190G>A (p.Ala3730=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2959764	NM_006904.7(PRKDC):c.1696G>A (p.Asp566Asn)	PRKDC (D566N)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2957215	NM_006904.7(PRKDC):c.2618-20dup	PRKDC	Duplication (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2956955	NM_006904.7(PRKDC):c.3724T>C (p.Leu1242=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2956078	NM_006904.7(PRKDC):c.6505C>T (p.Leu2169=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2955863	NM_006904.7(PRKDC):c.6033C>T (p.Ala2011=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2955100	NM_006904.7(PRKDC):c.5677G>A (p.Glu1893Lys)	PRKDC (E1893K)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2954621	NM_006904.7(PRKDC):c.5481G>A (p.Leu1827=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2954574	NM_006904.7(PRKDC):c.1113+12T>G	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2920557	NM_006904.7(PRKDC):c.8664G>A (p.Val2888=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2920512	NM_006904.7(PRKDC):c.9705G>A (p.Lys3235=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2920510	NM_006904.7(PRKDC):c.9111+17T>G	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2920336	NM_006904.7(PRKDC):c.1278+8A>G	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2919482	NM_006904.7(PRKDC):c.232-22_232-20del	PRKDC	Deletion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2917737	NM_006904.7(PRKDC):c.6699C>T (p.His2233=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2916805	NM_006904.7(PRKDC):c.7689C>T (p.Leu2563=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2916621	NM_006904.7(PRKDC):c.4614G>C (p.Leu1538=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2916397	NM_006904.7(PRKDC):c.5955G>A (p.Lys1985=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2915349	NM_006904.7(PRKDC):c.231+20T>A	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2915327	NM_006904.7(PRKDC):c.2879A>G (p.Gln960Arg)	PRKDC (Q960R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2915101	NM_006904.7(PRKDC):c.10759-10C>T	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2914713	NM_006904.7(PRKDC):c.10450A>T (p.Thr3484Ser)	PRKDC (T3484S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2912512	NM_006904.7(PRKDC):c.9111+14T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2911409	NM_006904.7(PRKDC):c.7951+19G>A	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2910983	NM_006904.7(PRKDC):c.8578-18G>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2910812	NM_006904.7(PRKDC):c.3975A>G (p.Gln1325=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2909407	NM_006904.7(PRKDC):c.8373C>T (p.Ile2791=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2908688	NM_006904.7(PRKDC):c.6258C>T (p.Asp2086=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2908512	NM_006904.7(PRKDC):c.10458+14T>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2904248	NM_006904.7(PRKDC):c.12000C>T (p.Asn4000=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2904116	NM_006904.7(PRKDC):c.11265C>T (p.Gly3755=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2903405	NM_006904.7(PRKDC):c.4158C>T (p.Ile1386=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2903200	NM_006904.7(PRKDC):c.7032G>C (p.Leu2344=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2902075	NM_006904.7(PRKDC):c.6285G>T (p.Ala2095=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2901619	NM_006904.7(PRKDC):c.8538C>T (p.Thr2846=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2901367	NM_006904.7(PRKDC):c.2052+18del	PRKDC	Deletion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2901189	NM_006904.7(PRKDC):c.11083C>T (p.Leu3695=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2900896	NM_006904.7(PRKDC):c.8658G>A (p.Gln2886=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2899487	NM_006904.7(PRKDC):c.155-14A>G	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2898176	NM_006904.7(PRKDC):c.1670G>T (p.Ser557Ile)	PRKDC (S557I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2897689	NM_006904.7(PRKDC):c.3270-19C>T	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2896999	NM_006904.7(PRKDC):c.11107+15A>G	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2895515	NM_006904.7(PRKDC):c.5874G>A (p.Glu1958=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign

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