"Ambry Genetics"[submitter] AND "NMT2"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2532391	NM_004808.3(NMT2):c.1487T>C (p.Val496Ala)	NMT2 (V483A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300174	NM_004808.3(NMT2):c.1465G>C (p.Asp489His)	NMT2 (D476H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200848	NM_004808.3(NMT2):c.1411A>G (p.Ile471Val)	NMT2 (I458V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200847	NM_004808.3(NMT2):c.1324A>G (p.Ile442Val)	NMT2 (I429V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412509	NM_004808.3(NMT2):c.1319C>T (p.Ala440Val)	NMT2 (A440V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313291	NM_004808.3(NMT2):c.1305C>A (p.Asp435Glu)	NMT2 (D435E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351052	NM_004808.3(NMT2):c.1288G>C (p.Glu430Gln)	NMT2 (E417Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392867	NM_004808.3(NMT2):c.1229T>C (p.Met410Thr)	NMT2 (M397T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515596	NM_004808.3(NMT2):c.1139G>A (p.Arg380Gln)	NMT2 (R380Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312551	NM_004808.3(NMT2):c.1055G>A (p.Arg352Gln)	NMT2 (R339Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300176	NM_004808.3(NMT2):c.1028T>C (p.Met343Thr)	NMT2 (M330T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221119	NM_004808.3(NMT2):c.862G>A (p.Val288Ile)	NMT2 (V275I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200855	NM_004808.3(NMT2):c.854C>T (p.Ala285Val)	NMT2 (A272V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219370	NM_004808.3(NMT2):c.853G>A (p.Ala285Thr)	NMT2 (A285T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511988	NM_004808.3(NMT2):c.851C>T (p.Thr284Ile)	NMT2 (T271I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200854	NM_004808.3(NMT2):c.738A>C (p.Glu246Asp)	NMT2 (E233D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610827	NM_004808.3(NMT2):c.732G>T (p.Met244Ile)	NMT2 (M244I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200853	NM_004808.3(NMT2):c.730A>T (p.Met244Leu)	NMT2 (M231L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200852	NM_004808.3(NMT2):c.729G>T (p.Lys243Asn)	NMT2 (K243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280877	NM_004808.3(NMT2):c.636G>T (p.Trp212Cys)	NMT2 (W212C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280876	NM_004808.3(NMT2):c.635G>T (p.Trp212Leu)	NMT2 (W212L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548634	NM_004808.3(NMT2):c.572G>A (p.Arg191Gln)	NMT2 (R191Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200851	NM_004808.3(NMT2):c.553G>A (p.Asp185Asn)	NMT2 (D185N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300173	NM_004808.3(NMT2):c.547G>A (p.Val183Ile)	NMT2 (V170I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402244	NM_004808.3(NMT2):c.505G>C (p.Glu169Gln)	NMT2 (E156Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200850	NM_004808.3(NMT2):c.443G>A (p.Arg148His)	NMT2 (R135H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200849	NM_004808.3(NMT2):c.442C>T (p.Arg148Cys)	NMT2 (R135C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457489	NM_004808.3(NMT2):c.307G>A (p.Ala103Thr)	NMT2 (A90T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529700	NM_004808.3(NMT2):c.49G>T (p.Asp17Tyr)	LOC130003427, NMT2 (D17Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2273860	NM_004808.3(NMT2):c.32A>T (p.Gln11Leu)	LOC130003427, NMT2 (Q11L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 30