"PreventionGenetics, part of Exact Sciences"[submitter] AND "DYM"[gene - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036336	NM_001353214.3(DYM):c.2021T>C (p.Leu674Pro)	DYM (L368P +15 more)	Single nucleotide variant (missense variant +1 more)	DYM-related disorder	GUncertain significance
Select item 3053278	NM_001353214.3(DYM):c.2020C>T (p.Leu674=)	DYM	Single nucleotide variant (synonymous variant +1 more)	DYM-related disorder	GLikely benign
Select item 284211	NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)	DYM (Q593R +15 more)	Single nucleotide variant (missense variant +1 more)	Dyggve-Melchior-Clausen syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3047442	NM_001353214.3(DYM):c.1728+7_1728+8insTACT	DYM	Insertion (intron variant)	DYM-related disorder	GLikely benign
Select item 3017181	NM_001353214.3(DYM):c.1413G>A (p.Ser471=)	DYM	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1355227	NM_001353214.3(DYM):c.1196T>C (p.Ile399Thr)	DYM (I209T +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1953555	NM_001353214.3(DYM):c.1106G>A (p.Arg369His)	DYM (R367H +7 more)	Single nucleotide variant (missense variant)	DYM-related disorder +1 more	GUncertain significance
Select item 982866	NM_001353214.3(DYM):c.947-2A>G	DYM	Single nucleotide variant (splice acceptor variant)	DYM-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 281352	NM_001353214.3(DYM):c.946+7G>A	DYM	Single nucleotide variant (intron variant)	DYM-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 326900	NM_001353214.3(DYM):c.920C>T (p.Ala307Val)	DYM (A307V +6 more)	Single nucleotide variant (missense variant +1 more)	Dyggve-Melchior-Clausen syndrome +2 more	GUncertain significance
Select item 287525	NM_001353214.3(DYM):c.620+4T>G	DYM	Single nucleotide variant (intron variant)	Dyggve-Melchior-Clausen syndrome +4 more	GConflicting classifications of pathogenicity
Select item 198570	NM_001353214.3(DYM):c.500T>A (p.Ile167Asn)	DYM (I167N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1628166	NM_001353214.3(DYM):c.348G>C (p.Val116=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 290755	NM_001353214.3(DYM):c.288-10G>A	DYM	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1149447	NM_001353214.3(DYM):c.207T>C (p.Pro69=)	DYM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 786661	NM_017653.6(DYM):c.140+8A>T	DYM	Single nucleotide variant	DYM-related disorder +1 more	GBenign/Likely benign
Select item 326908	NM_001353214.3(DYM):c.42T>G (p.Asn14Lys)	DYM (N14K)	Single nucleotide variant (missense variant)	Dyggve-Melchior-Clausen syndrome +2 more	GUncertain significance