"Ambry Genetics"[submitter] AND "DMTN"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3083182	NM_001387751.1(DMTN):c.70C>T (p.Pro24Ser)	DMTN (P24S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083183	NM_001387751.1(DMTN):c.79C>T (p.Pro27Ser)	DMTN (P27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083179	NM_001387751.1(DMTN):c.107A>T (p.Asn36Ile)	DMTN (N36I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238210	NM_001387751.1(DMTN):c.281C>A (p.Pro94Gln)	DMTN (P69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083180	NM_001387751.1(DMTN):c.449G>A (p.Arg150Lys)	DMTN (R150K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588605	NM_001387751.1(DMTN):c.457G>A (p.Val153Met)	DMTN (V128M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083181	NM_001387751.1(DMTN):c.622C>T (p.Arg208Trp)	DMTN (R193W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218174	NM_001387751.1(DMTN):c.634C>T (p.Arg212Trp)	DMTN (R172W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232734	NM_001387751.1(DMTN):c.673G>A (p.Asp225Asn)	DMTN (D200N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346496	NM_001387751.1(DMTN):c.707G>T (p.Arg236Leu)	DMTN (R221L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272444	NM_001387751.1(DMTN):c.788T>C (p.Ile263Thr)	DMTN (I238T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395044	NM_001387751.1(DMTN):c.803G>A (p.Arg268His)	DMTN (R243H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508846	NM_001387751.1(DMTN):c.896G>C (p.Ser299Thr)	DMTN (S274T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083184	NM_001387751.1(DMTN):c.950G>A (p.Gly317Asp)	DMTN (G292D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224588	NM_001387751.1(DMTN):c.975G>T (p.Arg325Ser)	DMTN (R310S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550601	NM_001387751.1(DMTN):c.1095G>A (p.Met365Ile)	DMTN (M318I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455000	NM_001387751.1(DMTN):c.1097G>A (p.Arg366Gln)	DMTN (R304Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance