Related gene-specific medical variations for Gene (Select 5591) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3225930	NM_006904.7(PRKDC):c.8760C>T (p.Val2920=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225929	NM_006904.7(PRKDC):c.8742C>G (p.Ala2914=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225928	NM_006904.7(PRKDC):c.8649C>A (p.Ser2883Arg)	LOC121740717, PRKDC (S2883R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225883	NM_006904.7(PRKDC):c.60C>A (p.Ser20=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225880	NM_006904.7(PRKDC):c.59C>T (p.Ser20Phe)	LOC129929030, PRKDC (S20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3225749	NM_006904.7(PRKDC):c.144C>G (p.Pro48=)	LOC130000337, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3225716	NM_006904.7(PRKDC):c.112C>T (p.Leu38=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	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 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 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 2840984	NM_006904.7(PRKDC):c.21T>G (p.Gly7=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2820422	NM_006904.7(PRKDC):c.18C>A (p.Ala6=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2761589	NM_006904.7(PRKDC):c.154+14C>G	LOC130000337, PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2742455	NM_006904.7(PRKDC):c.154+8C>T	LOC130000337, PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2723894	NM_006904.7(PRKDC):c.8631C>T (p.Ser2877=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2693293	NM_006904.7(PRKDC):c.8646C>T (p.Ala2882=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2626362	NM_006904.7(PRKDC):c.8716C>G (p.Pro2906Ala)	LOC121740717, PRKDC (P2906A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626350	NM_006904.7(PRKDC):c.93T>C (p.Gly31=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2626349	NM_006904.7(PRKDC):c.105C>G (p.Ile35Met)	LOC129929030, PRKDC (I35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626345	NM_006904.7(PRKDC):c.29G>T (p.Cys10Phe)	LOC129929030, PRKDC (C10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626331	NM_006904.7(PRKDC):c.31T>A (p.Ser11Thr)	LOC129929030, PRKDC (S11T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2586710	NM_006904.7(PRKDC):c.145G>T (p.Ala49Ser)	LOC130000337, PRKDC (A49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2586702	NM_006904.7(PRKDC):c.65C>T (p.Ala22Val)	LOC129929030, PRKDC (A22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564567	NM_006904.7(PRKDC):c.8720C>T (p.Ala2907Val)	LOC121740717, PRKDC (A2907V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564550	NM_006904.7(PRKDC):c.37C>A (p.Leu13Met)	LOC129929030, PRKDC (L13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564532	NM_006904.7(PRKDC):c.17C>G (p.Ala6Gly)	LOC129929030, PRKDC (A6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564531	NM_006904.7(PRKDC):c.8745C>A (p.Arg2915=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564495	NM_006904.7(PRKDC):c.107G>A (p.Arg36His)	LOC129929030, PRKDC (R36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561935	NM_006904.7(PRKDC):c.147G>C (p.Ala49=)	LOC130000337, PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2561931	NM_006904.7(PRKDC):c.135C>T (p.Ser45=)	LOC130000337, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2561909	NM_006904.7(PRKDC):c.12C>T (p.Ser4=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2560668	NM_006904.7(PRKDC):c.153G>C (p.Leu51=)	LOC130000337, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2541108	NM_006904.7(PRKDC):c.14G>T (p.Gly5Val)	LOC129929030, PRKDC (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497429	NM_006904.7(PRKDC):c.5C>T (p.Ala2Val)	LOC129929030, PRKDC (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497396	NM_006904.7(PRKDC):c.7G>A (p.Gly3Ser)	LOC129929030, PRKDC (G3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497377	NM_006904.7(PRKDC):c.117G>A (p.Gly39=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2497363	NM_006904.7(PRKDC):c.8645C>T (p.Ala2882Val)	LOC121740717, PRKDC (A2882V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497360	NM_006904.7(PRKDC):c.89C>T (p.Ala30Val)	LOC129929030, PRKDC (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453377	NM_006904.7(PRKDC):c.88G>T (p.Ala30Ser)	LOC129929030, PRKDC (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453350	NM_006904.7(PRKDC):c.11C>G (p.Ser4Cys)	LOC129929030, PRKDC (S4C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2453266	NM_006904.7(PRKDC):c.6G>A (p.Ala2=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2453000	NM_006904.7(PRKDC):c.24G>C (p.Val8=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2449855	NM_006904.7(PRKDC):c.8610C>G (p.Ser2870Arg)	LOC121740717, PRKDC (S2870R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449836	NM_006904.7(PRKDC):c.42G>C (p.Arg14=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2449832	NM_006904.7(PRKDC):c.36G>T (p.Leu12=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2449814	NM_006904.7(PRKDC):c.8704C>T (p.Pro2902Ser)	LOC121740717, PRKDC (P2902S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435248	NM_006904.7(PRKDC):c.4882A>T (p.Lys1628Ter)	PRKDC (K1628*)	Single nucleotide variant (nonsense)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2435247	NM_006904.7(PRKDC):c.2560A>G (p.Arg854Gly)	PRKDC (R854G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2413374	NM_006904.7(PRKDC):c.24G>A (p.Val8=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2334543	NM_006904.7(PRKDC):c.8741C>T (p.Ala2914Val)	LOC121740717, PRKDC (A2914V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282045	NM_006904.7(PRKDC):c.8649C>G (p.Ser2883Arg)	LOC121740717, PRKDC (S2883R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201652	NM_006904.7(PRKDC):c.8744G>C (p.Arg2915Pro)	LOC121740717, PRKDC (R2915P)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2175387	NM_006904.7(PRKDC):c.8625T>C (p.Ala2875=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2160594	NM_006904.7(PRKDC):c.8672G>A (p.Arg2891His)	LOC121740717, PRKDC (R2891H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2113439	NM_006904.7(PRKDC):c.8661C>A (p.Pro2887=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2112995	NM_006904.7(PRKDC):c.8636G>A (p.Gly2879Asp)	LOC121740717, PRKDC (G2879D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2110599	NM_006904.7(PRKDC):c.8725C>A (p.Arg2909=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2082745	NM_006904.7(PRKDC):c.8671C>G (p.Arg2891Gly)	LOC121740717, PRKDC (R2891G)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2082292	NM_006904.7(PRKDC):c.108C>T (p.Arg36=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GLikely benign
Select item 2081797	NM_006904.7(PRKDC):c.71G>A (p.Arg24His)	LOC129929030, PRKDC (R24H)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 2012040	NM_006904.7(PRKDC):c.63T>C (p.Ala21=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 2008450	NM_006904.7(PRKDC):c.8745C>T (p.Arg2915=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2000468	NM_006904.7(PRKDC):c.8783+17del	LOC121740717, PRKDC	Deletion (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1985461	NM_006904.7(PRKDC):c.8783+15dup	LOC121740717, PRKDC	Duplication (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1966844	NM_006904.7(PRKDC):c.90C>T (p.Ala30=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GLikely benign
Select item 1966311	NM_006904.7(PRKDC):c.8639G>A (p.Cys2880Tyr)	LOC121740717, PRKDC (C2880Y)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1938928	NM_006904.7(PRKDC):c.154+8C>G	LOC130000337, PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GLikely benign
Select item 1916010	NM_006904.7(PRKDC):c.153G>A (p.Leu51=)	LOC130000337, PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1895529	NM_006904.7(PRKDC):c.8632G>A (p.Ala2878Thr)	LOC121740717, PRKDC (A2878T)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency	GUncertain significance
Select item 1797437	NM_006904.7(PRKDC):c.28T>G (p.Cys10Gly)	LOC129929030, PRKDC (C10G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1797235	NM_006904.7(PRKDC):c.111C>T (p.Gly37=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1794908	NM_006904.7(PRKDC):c.26G>C (p.Arg9Pro)	LOC129929030, PRKDC (R9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1794800	NM_006904.7(PRKDC):c.110G>A (p.Gly37Asp)	LOC129929030, PRKDC (G37D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1792234	NM_006904.7(PRKDC):c.24G>T (p.Val8=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1792155	NM_006904.7(PRKDC):c.10T>G (p.Ser4Ala)	LOC129929030, PRKDC (S4A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1785884	NM_006904.7(PRKDC):c.20G>A (p.Gly7Asp)	LOC129929030, PRKDC (G7D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1782270	NM_006904.7(PRKDC):c.18C>T (p.Ala6=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1780353	NM_006904.7(PRKDC):c.17C>A (p.Ala6Asp)	LOC129929030, PRKDC (A6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1776124	NM_006904.7(PRKDC):c.15A>G (p.Gly5=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1774601	NM_006904.7(PRKDC):c.152T>G (p.Leu51Arg)	LOC130000337, PRKDC (L51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1774598	NM_006904.7(PRKDC):c.152T>A (p.Leu51Gln)	LOC130000337, PRKDC (L51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1774390	NM_006904.7(PRKDC):c.151C>G (p.Leu51Val)	LOC130000337, PRKDC (L51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1773969	NM_006904.7(PRKDC):c.149T>G (p.Val50Gly)	LOC130000337, PRKDC (V50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1773132	NM_006904.7(PRKDC):c.145G>C (p.Ala49Pro)	LOC130000337, PRKDC (A49P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1771997	NM_006904.7(PRKDC):c.140G>T (p.Ser47Ile)	LOC130000337, PRKDC (S47I)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 1771713	NM_006904.7(PRKDC):c.139A>G (p.Ser47Gly)	LOC130000337, PRKDC (S47G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1770311	NM_006904.7(PRKDC):c.133A>C (p.Ser45Arg)	LOC130000337, PRKDC (S45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1768923	NM_006904.7(PRKDC):c.9C>T (p.Gly3=)	LOC129929030, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1768873	NM_006904.7(PRKDC):c.99A>G (p.Gln33=)	PRKDC, LOC129929030	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1767915	NM_006904.7(PRKDC):c.96T>G (p.His32Gln)	LOC129929030, PRKDC (H32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1766169	NM_006904.7(PRKDC):c.91G>A (p.Gly31Ser)	LOC129929030, PRKDC (G31S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1764515	NM_006904.7(PRKDC):c.8742C>T (p.Ala2914=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764486	NM_006904.7(PRKDC):c.8739G>A (p.Lys2913=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764479	NM_006904.7(PRKDC):c.8730C>T (p.Val2910=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1764250	NM_006904.7(PRKDC):c.8673C>G (p.Arg2891=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764248	NM_006904.7(PRKDC):c.8670C>T (p.Ile2890=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1764247	NM_006904.7(PRKDC):c.8670C>G (p.Ile2890Met)	LOC121740717, PRKDC (I2890M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764227	NM_006904.7(PRKDC):c.8660C>T (p.Pro2887Leu)	LOC121740717, PRKDC (P2887L)	Single nucleotide variant (missense variant)	PRKDC-related condition +1 more	GBenign/Likely benign
Select item 1764226	NM_006904.7(PRKDC):c.8660C>G (p.Pro2887Arg)	LOC121740717, PRKDC (P2887R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1764148	NM_006904.7(PRKDC):c.8649C>T (p.Ser2883=)	LOC121740717, PRKDC	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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