"Ambry Genetics"[submitter] AND "DM1-AS"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2189994	NM_175875.5(SIX5):c.704C>T (p.Ala235Val)	DM1-AS, LOC107075317 +1 more (A235V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2331161	NM_175875.5(SIX5):c.698G>A (p.Arg233His)	DM1-AS, LOC107075317 +1 more (R233H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336439	NM_175875.5(SIX5):c.671G>C (p.Arg224Pro)	DM1-AS, LOC107075317 +1 more (R224P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162586	NM_175875.5(SIX5):c.653C>G (p.Ala218Gly)	LOC107075317, SIX5 +1 more (A218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473471	NM_175875.5(SIX5):c.457C>T (p.Pro153Ser)	DM1-AS, LOC107075317 +1 more (P153S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1367847	NM_175875.5(SIX5):c.258C>G (p.Phe86Leu)	DM1-AS, LOC107075317 +2 more (F86L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2534567	NM_175875.5(SIX5):c.232T>G (p.Ser78Ala)	DM1-AS, LOC107075317 +2 more (S78A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548932	NM_175875.5(SIX5):c.230C>T (p.Ala77Val)	DM1-AS, LOC107075317 +2 more (A77V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2243357	NM_175875.5(SIX5):c.224A>C (p.Glu75Ala)	DM1-AS, LOC107075317 +2 more (E75A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2083786	NM_175875.5(SIX5):c.224A>T (p.Glu75Val)	DM1-AS, LOC107075317 +2 more (E75V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2534566	NM_175875.5(SIX5):c.221C>G (p.Pro74Arg)	DM1-AS, LOC107075317 +2 more (P74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302707	NM_175875.5(SIX5):c.209C>G (p.Pro70Arg)	DM1-AS, LOC107075317 +2 more (P70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162585	NM_175875.5(SIX5):c.197C>T (p.Ser66Phe)	LOC107075317, LOC129929037 +2 more (S66F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162584	NM_175875.5(SIX5):c.197C>A (p.Ser66Tyr)	SIX5, LOC129929037 +2 more (S66Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2085283	NM_175875.5(SIX5):c.161C>T (p.Ala54Val)	DM1-AS, LOC107075317 +2 more (A54V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2569521	NM_175875.5(SIX5):c.73A>G (p.Thr25Ala)	DM1-AS, LOC107075317 +1 more (T25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283790	NM_175875.5(SIX5):c.22C>T (p.Pro8Ser)	DM1-AS, LOC107075317 +1 more (P8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534565	NM_175875.5(SIX5):c.16G>T (p.Ala6Ser)	DM1-AS, LOC107075317 +1 more (A6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613036	NM_004409.5(DMPK):c.1836C>T (p.His612=)	DM1-AS, DMPK +2 more (T637M +4 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2594840	NM_004409.5(DMPK):c.1820T>C (p.Ile607Thr)	DM1-AS, DMPK +2 more (I572T +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2386701	NM_004409.5(DMPK):c.1775T>A (p.Leu592His)	DM1-AS, DMPK +1 more (L587H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083102	NM_004409.5(DMPK):c.1752C>T (p.Gly584=)	DM1-AS, DMPK +1 more (A494V +4 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2320253	NM_004409.5(DMPK):c.1729C>G (p.Pro577Ala)	DM1-AS, DMPK +2 more (P587A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3083101	NM_004409.5(DMPK):c.1662G>A (p.Pro554=)	DM1-AS, DMPK +2 more (G539S +5 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2370644	NM_004409.5(DMPK):c.1660C>T (p.Pro554Ser)	DM1-AS, DMPK +2 more (P549S +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2538885	NM_004409.5(DMPK):c.1595C>T (p.Ala532Val)	DM1-AS, DMPK +1 more (A443V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334127	NM_004409.5(DMPK):c.1520A>G (p.Glu507Gly)	DM1-AS, DMPK +1 more (E502G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3083100	NM_004409.5(DMPK):c.1498G>A (p.Ala500Thr)	DM1-AS, DMPK +1 more (A411T +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 28