"PreventionGenetics, part of Exact Sciences"[submitter] AND "DLST"[gen - ClinVar - NCBI

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

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3043396	NM_001933.5(DLST):c.-10C>T	DLST	Single nucleotide variant (5 prime UTR variant +1 more)	DLST-related disorder	GLikely benign
Select item 3036089	NM_001933.5(DLST):c.-7C>A	DLST	Single nucleotide variant (5 prime UTR variant +1 more)	DLST-related disorder	GLikely benign
Select item 2714996	NM_001933.5(DLST):c.12A>G (p.Arg4=)	DLST	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3032362	NM_001933.5(DLST):c.74C>T (p.Pro25Leu)	DLST (P25L)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GUncertain significance
Select item 2741849	NM_001933.5(DLST):c.145G>A (p.Val49Ile)	DLST (V49I)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder +1 more	GLikely benign
Select item 2634746	NM_001933.5(DLST):c.316A>G (p.Ile106Val)	DLST (I106V)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GUncertain significance
Select item 2337791	NM_001933.5(DLST):c.386C>T (p.Pro129Leu)	DLST (P129L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3051680	NM_001933.5(DLST):c.440G>A (p.Gly147Asp)	DLST (G147D)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GLikely benign
Select item 3054284	NM_001933.5(DLST):c.442+39C>G	DLST (P161A)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GLikely benign
Select item 3047827	NM_001933.5(DLST):c.465G>A (p.Pro155=)	DLST	Single nucleotide variant (synonymous variant +1 more)	DLST-related disorder	GLikely benign
Select item 2636917	NM_001933.5(DLST):c.512C>T (p.Ala171Val)	DLST (A171V)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GUncertain significance
Select item 2788063	NM_001933.5(DLST):c.576G>A (p.Gln192=)	DLST	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3031177	NM_001933.5(DLST):c.697C>T (p.Arg233Cys)	DLST (R233C)	Single nucleotide variant (missense variant +1 more)	DLST-related disorder	GUncertain significance
Select item 2855675	NM_001933.5(DLST):c.752T>A (p.Phe251Tyr)	DLST (F251Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2788064	NM_001933.5(DLST):c.771-10A>G	DLST	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 916159	NM_001933.5(DLST):c.783G>A (p.Glu261=)	DLST	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2788065	NM_001933.5(DLST):c.1098C>T (p.Gly366=)	DLST	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign