Related gene-specific medical variations for Gene (Select 51726) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055021	NM_016306.6(DNAJB11):c.51C>T (p.Ile17=)	DNAJB11, LOC129938103	Single nucleotide variant (synonymous variant +1 more)	DNAJB11-related disorder	GLikely benign
Select item 3041513	NM_016306.6(DNAJB11):c.-6G>A	DNAJB11, LOC129938103	Single nucleotide variant (5 prime UTR variant +1 more)	DNAJB11-related disorder	GLikely benign
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 2420612	NM_016306.6(DNAJB11):c.39G>A (p.Leu13=)	DNAJB11, LOC129938103	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2419130	NM_016306.6(DNAJB11):c.60G>A (p.Val20=)	DNAJB11, LOC129938103	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2212422	NM_016306.6(DNAJB11):c.23C>T (p.Thr8Ile)	DNAJB11, LOC129938103 (T8I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1477431	NM_016306.6(DNAJB11):c.27T>A (p.Phe9Leu)	DNAJB11, LOC129938103 (F9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1431018	NM_016306.6(DNAJB11):c.42A>G (p.Leu14=)	DNAJB11, LOC129938103	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1294633	NM_016306.6(DNAJB11):c.-122A>G	DNAJB11, LOC129938103	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign