C4085251[trait identifier] AND "Genome Diagnostics Laboratory, Amsterd - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 664776	NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)	LOC129995449, SQSTM1 (L47V)	Single nucleotide variant (missense variant +1 more)	SQSTM1-related disorder +2 more	GUncertain significance
Select item 353157	NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)	LOC129995449, SQSTM1	Single nucleotide variant (synonymous variant +1 more)	Paget disease of bone 2, early-onset +3 more	GBenign/Likely benign
Select item 202212	NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)	SQSTM1 (A117V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 475403	NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)	SQSTM1 (K238E +1 more)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +4 more	GBenign/Likely benign
Select item 259188	NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp)	SQSTM1 (E190D +1 more)	Single nucleotide variant (missense variant)	Paget disease of bone 3 +4 more	GBenign/Likely benign
Select item 259189	NM_003900.5(SQSTM1):c.876C>T (p.Asp292=)	SQSTM1	Single nucleotide variant (synonymous variant)	Myopathy, distal, with rimmed vacuoles +7 more	GBenign
Select item 259190	NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)	SQSTM1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 259191	NM_003900.5(SQSTM1):c.936G>A (p.Arg312=)	SQSTM1	Single nucleotide variant (synonymous variant)	Myopathy, distal, with rimmed vacuoles +7 more	GBenign
Select item 259192	NM_003900.5(SQSTM1):c.954C>T (p.Ser318=)	SQSTM1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 475410	NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)	SQSTM1	Single nucleotide variant (synonymous variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +7 more	GBenign/Likely benign
Select item 448531	NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)	SQSTM1	Single nucleotide variant (synonymous variant)	Paget disease of bone 2, early-onset +3 more	GConflicting classifications of pathogenicity
Select item 448529	NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)	SQSTM1 (S286P +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 475398	NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=)	SQSTM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign