"DNAJB11-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3034430	NM_016306.6(DNAJB11):c.69-7T>G	DNAJB11	Single nucleotide variant (intron variant)	DNAJB11-related disorder	GLikely benign
Select item 3031564	NM_016306.6(DNAJB11):c.407T>C (p.Val136Ala)	DNAJB11 (V136A)	Single nucleotide variant (missense variant +2 more)	DNAJB11-related disorder	GUncertain significance
Select item 3038966	NM_016306.6(DNAJB11):c.579C>T (p.Cys193=)	DNAJB11	Single nucleotide variant (synonymous variant +2 more)	DNAJB11-related disorder	GLikely benign
Select item 3047011	NM_016306.6(DNAJB11):c.582C>T (p.Asp194=)	DNAJB11	Single nucleotide variant (synonymous variant +2 more)	DNAJB11-related disorder	GLikely benign
Select item 1611489	NM_016306.6(DNAJB11):c.683-8C>G	DNAJB11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3055099	NM_016306.6(DNAJB11):c.685G>A (p.Glu229Lys)	DNAJB11 (E137K +1 more)	Single nucleotide variant (missense variant +1 more)	DNAJB11-related disorder	GUncertain significance
Select item 1588264	NM_016306.6(DNAJB11):c.768T>A (p.Asp256Glu)	DNAJB11 (D164E +1 more)	Single nucleotide variant (missense variant +1 more)	DNAJB11-related disorder +1 more	GLikely benign
Select item 1559823	NM_016306.6(DNAJB11):c.923A>G (p.Asn308Ser)	DNAJB11 (N216S +1 more)	Single nucleotide variant (missense variant +1 more)	DNAJB11-related disorder +1 more	GLikely benign
Select item 2635423	NM_016306.6(DNAJB11):c.935A>G (p.Asn312Ser)	DNAJB11 (N220S +1 more)	Single nucleotide variant (missense variant +1 more)	DNAJB11-related disorder	GUncertain significance
Select item 3056471	NM_016306.6(DNAJB11):c.1013-7_1013-4del	DNAJB11	Microsatellite (intron variant)	DNAJB11-related disorder	GLikely benign