"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRKDC"[ge - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1015416	NM_006904.7(PRKDC):c.10274G>T (p.Arg3425Leu)	PRKDC (R3425L)	Single nucleotide variant (missense variant)	PRKDC-related disorder +1 more	GUncertain significance
Select item 3036065	NM_006904.7(PRKDC):c.10123G>A (p.Ala3375Thr)	PRKDC (A3375T)	Single nucleotide variant (missense variant)	PRKDC-related disorder	GLikely benign
Select item 2629986	NM_006904.7(PRKDC):c.9407C>G (p.Thr3136Arg)	PRKDC (T3136R)	Single nucleotide variant (missense variant)	PRKDC-related disorder	GUncertain significance
Select item 1766248	NM_006904.7(PRKDC):c.9225G>A (p.Lys3075=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +1 more	GLikely benign
Select item 967823	NM_006904.7(PRKDC):c.9170C>A (p.Ala3057Asp)	PRKDC (A3057D)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 656998	NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu)	LOC121740717, PRKDC (V2888L)	Single nucleotide variant (missense variant)	PRKDC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1764227	NM_006904.7(PRKDC):c.8660C>T (p.Pro2887Leu)	LOC121740717, PRKDC (P2887L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1089256	NM_006904.7(PRKDC):c.8325C>T (p.Tyr2775=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +2 more	GLikely benign
Select item 475236	NM_006904.7(PRKDC):c.7405T>C (p.Cys2469Arg)	PRKDC (C2469R)	Single nucleotide variant (missense variant)	PRKDC-related disorder +1 more	GLikely benign
Select item 1756074	NM_006904.7(PRKDC):c.6900C>G (p.Phe2300Leu)	PRKDC (F2300L)	Single nucleotide variant (missense variant)	PRKDC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3057245	NM_006904.7(PRKDC):c.6341A>G (p.Glu2114Gly)	PRKDC (E2114G)	Single nucleotide variant (missense variant)	PRKDC-related disorder	GLikely benign
Select item 773908	NM_006904.7(PRKDC):c.5837A>G (p.Asn1946Ser)	PRKDC (N1946S)	Single nucleotide variant (missense variant)	PRKDC-related disorder +1 more	GLikely benign
Select item 429510	NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln)	PRKDC (L1707Q)	Single nucleotide variant (missense variant)	PRKDC-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3056741	NM_006904.7(PRKDC):c.5087T>G (p.Leu1696Arg)	PRKDC (L1696R)	Single nucleotide variant (missense variant)	PRKDC-related disorder	GBenign
Select item 966549	NM_006904.7(PRKDC):c.5081C>G (p.Thr1694Ser)	PRKDC (T1694S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GUncertain significance
Select item 1743077	NM_006904.7(PRKDC):c.4788T>C (p.Val1596=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +1 more	GLikely benign
Select item 1031107	NM_006904.7(PRKDC):c.4773A>G (p.Lys1591=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 379448	NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu)	PRKDC (V1479L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1736357	NM_006904.7(PRKDC):c.3940G>T (p.Gly1314Cys)	PRKDC (G1314C)	Single nucleotide variant (missense variant)	PRKDC-related disorder +1 more	GBenign/Likely benign
Select item 1157214	NM_006904.7(PRKDC):c.3834G>A (p.Ala1278=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +1 more	GLikely benign
Select item 379416	NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr)	PRKDC (A1237T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 475225	NM_006904.7(PRKDC):c.3315G>T (p.Val1105=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +2 more	GBenign/Likely benign
Select item 3035699	NM_006904.7(PRKDC):c.3270-11_3270-10dup	PRKDC	Duplication (intron variant)	PRKDC-related disorder	GLikely benign
Select item 1161475	NM_006904.7(PRKDC):c.3264A>G (p.Glu1088=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +2 more	GLikely benign
Select item 379644	NM_006904.7(PRKDC):c.2934+5G>C	PRKDC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1543506	NM_006904.7(PRKDC):c.2919G>A (p.Ala973=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 475222	NM_006904.7(PRKDC):c.1911A>G (p.Lys637=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +3 more	GBenign/Likely benign
Select item 542020	NM_006904.7(PRKDC):c.1818A>G (p.Ser606=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +2 more	GLikely benign
Select item 154324	NM_006904.7(PRKDC):c.1777-710dup	PRKDC	Duplication (intron variant)	PRKDC-related disorder	GLikely benign
Select item 709437	NM_006904.7(PRKDC):c.1728T>G (p.Val576=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +2 more	GBenign/Likely benign
Select item 797310	NM_006904.7(PRKDC):c.1581C>T (p.Tyr527=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 732074	NM_006904.7(PRKDC):c.1539A>G (p.Glu513=)	PRKDC	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 957608	NM_006904.7(PRKDC):c.1497+5A>C	PRKDC	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +1 more	GConflicting classifications of pathogenicity
Select item 513590	NM_006904.7(PRKDC):c.594C>T (p.Arg198=)	PRKDC	Single nucleotide variant (synonymous variant)	PRKDC-related disorder +2 more	GLikely benign
Select item 656702	NM_006904.7(PRKDC):c.496dup (p.Ile166fs)	PRKDC (I166fs)	Duplication (frameshift variant)	PRKDC-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 542024	NM_006904.7(PRKDC):c.422C>G (p.Ser141Cys)	PRKDC (S141C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +2 more	GConflicting classifications of pathogenicity
Select item 740374	NM_006904.7(PRKDC):c.393T>C (p.Leu131=)	PRKDC	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to DNA-PKcs deficiency +2 more	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39