ClinVar for MedGen (Select 1648469) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237351	NM_016306.6(DNAJB11):c.544_550del (p.Pro182fs)	DNAJB11 (P182fs)	Deletion (frameshift variant +2 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic
Select item 3236224	NM_016306.6(DNAJB11):c.635_636del (p.Ile212fs)	DNAJB11 (I120fs +1 more)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic
Select item 3068379	NM_016306.6(DNAJB11):c.226-17C>G	DNAJB11	Single nucleotide variant (intron variant)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 2688959	NM_016306.6(DNAJB11):c.600-7A>G	DNAJB11	Single nucleotide variant (intron variant)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 2440926	NM_016306.6(DNAJB11):c.452T>G (p.Val151Gly)	DNAJB11 (V151G)	Single nucleotide variant (missense variant +2 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 1805387	NM_016306.6(DNAJB11):c.151C>T (p.Gln51Ter)	DNAJB11 (Q51*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GPathogenic
Select item 1250834	NM_016306.6(DNAJB11):c.324-27dup	DNAJB11	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1098713	NM_016306.6(DNAJB11):c.456+3A>G	DNAJB11	Single nucleotide variant (intron variant)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 992421	NM_016306.6(DNAJB11):c.743A>T (p.His248Leu)	DNAJB11 (H156L +1 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 987515	NM_016306.6(DNAJB11):c.800T>C (p.Val267Ala)	DNAJB11 (V175A +1 more)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GUncertain significance
Select item 549851	NM_016306.6(DNAJB11):c.616C>T (p.Arg206Ter)	DNAJB11 (R206* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 549850	NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro)	DNAJB11 (L77P)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic
Select item 549849	NM_016306.6(DNAJB11):c.479del (p.Ala160fs)	DNAJB11 (A160fs)	Deletion (frameshift variant +2 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GPathogenic
Select item 549848	NM_016306.6(DNAJB11):c.166_167insTT (p.Arg56fs)	DNAJB11 (R56fs)	Insertion (frameshift variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GPathogenic
Select item 549847	NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg)	DNAJB11 (P54R)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 6 with or without polycystic liver disease	GLikely pathogenic