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

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1352967	NM_000254.3(MTR):c.13C>A (p.Leu5Ile)	LOC129932886, MTR (L5I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2608352	NM_000254.3(MTR):c.56G>A (p.Arg19Gln)	MTR (R19Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2331852	NM_000254.3(MTR):c.163G>C (p.Glu55Gln)	MTR (E55Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1389985	NM_000254.3(MTR):c.349A>G (p.Met117Val)	MTR (M117V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3296753	NM_000254.3(MTR):c.365C>T (p.Ala122Val)	MTR (A122V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238133	NM_000254.3(MTR):c.394G>A (p.Val132Ile)	MTR (V132I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3217496	NM_000254.3(MTR):c.463G>C (p.Val155Leu)	MTR (V155L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520949	NM_000254.3(MTR):c.658C>T (p.Arg220Trp)	MTR (R220W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1700897	NM_000254.3(MTR):c.842A>G (p.Tyr281Cys)	MTR (Y281C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2323827	NM_000254.3(MTR):c.860A>G (p.Asn287Ser)	MTR (N287S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 572316	NM_000254.3(MTR):c.899C>T (p.Thr300Met)	MTR (T300M)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +2 more	GUncertain significance
Select item 2404849	NM_000254.3(MTR):c.907A>G (p.Met303Val)	MTR (M303V)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 970079	NM_000254.3(MTR):c.1039C>T (p.Pro347Ser)	MTR (P347S)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 3217387	NM_000254.3(MTR):c.1141G>T (p.Ala381Ser)	MTR (A381S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273451	NM_000254.3(MTR):c.1256A>G (p.Asp419Gly)	MTR (D419G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298460	NM_000254.3(MTR):c.1291T>G (p.Phe431Val)	MTR (F24V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1311222	NM_000254.3(MTR):c.1325C>A (p.Ala442Glu)	MTR (A35E +1 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG +2 more	GUncertain significance
Select item 3217392	NM_000254.3(MTR):c.1327A>G (p.Lys443Glu)	MTR (K443E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217396	NM_000254.3(MTR):c.1430G>A (p.Gly477Glu)	MTR (G477E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431942	NM_000254.3(MTR):c.1483A>G (p.Met495Val)	MTR (M88V +1 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG +1 more	GConflicting classifications of pathogenicity
Select item 3296756	NM_000254.3(MTR):c.1505A>G (p.Glu502Gly)	MTR (E95G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1429523	NM_000254.3(MTR):c.1583G>C (p.Gly528Ala)	MTR (G528A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3296759	NM_000254.3(MTR):c.1754G>A (p.Arg585Gln)	MTR (R585Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217404	NM_000254.3(MTR):c.1780A>G (p.Met594Val)	MTR (M594V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525340	NM_000254.3(MTR):c.1847A>G (p.Asn616Ser)	MTR (N616S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1431555	NM_000254.3(MTR):c.1855G>C (p.Val619Leu)	MTR (V212L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 579433	NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)	MTR (D621G +1 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG +4 more	GConflicting classifications of pathogenicity
Select item 2176490	NM_000254.3(MTR):c.1871A>C (p.His624Pro)	MTR (H217P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1380450	NM_000254.3(MTR):c.1943G>A (p.Arg648His)	MTR (R241H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511150	NM_000254.3(MTR):c.1982T>C (p.Ile661Thr)	MTR (I254T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2328510	NM_000254.3(MTR):c.2108G>A (p.Arg703Gln)	MTR (R296Q +1 more)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 1380139	NM_000254.3(MTR):c.2117A>G (p.Asn706Ser)	MTR (N299S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1434052	NM_000254.3(MTR):c.2171G>C (p.Gly724Ala)	MTR (G724A +1 more)	Single nucleotide variant (missense variant +1 more)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 2270705	NM_000254.3(MTR):c.2218A>G (p.Met740Val)	MTR (M333V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530276	NM_000254.3(MTR):c.2308C>T (p.Pro770Ser)	MTR (P719S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617116	NM_000254.3(MTR):c.2314C>G (p.Gln772Glu)	MTR (Q772E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1376705	NM_000254.3(MTR):c.2321C>T (p.Thr774Ile)	MTR (T774I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3296757	NM_000254.3(MTR):c.2462A>G (p.Asp821Gly)	MTR (D770G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267226	NM_000254.3(MTR):c.2745T>G (p.Asp915Glu)	MTR (D864E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1928780	NM_000254.3(MTR):c.2822A>T (p.Gln941Leu)	MTR (Q941L +3 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 2493544	NM_000254.3(MTR):c.2858C>G (p.Pro953Arg)	MTR (P902R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319603	NM_000254.3(MTR):c.2911G>A (p.Asp971Asn)	MTR (D564N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3217458	NM_000254.3(MTR):c.2957G>C (p.Gly986Ala)	MTR (G579A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296758	NM_000254.3(MTR):c.3040C>T (p.His1014Tyr)	MTR (H963Y +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217459	NM_000254.3(MTR):c.3127G>A (p.Asp1043Asn)	MTR (D636N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260678	NM_000254.3(MTR):c.3184T>C (p.Phe1062Leu)	MTR (F1062L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3217468	NM_000254.3(MTR):c.3280C>T (p.Arg1094Cys)	MTR (R1043C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1968060	NM_000254.3(MTR):c.3375G>A (p.Met1125Ile)	MTR (M718I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3296752	NM_000254.3(MTR):c.3431G>C (p.Arg1144Thr)	MTR (R737T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1375869	NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly)	MTR (S748G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3217478	NM_000254.3(MTR):c.3493A>G (p.Arg1165Gly)	MTR (R1114G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 14278	NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	MTR (P1173L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 1720617	NM_000254.3(MTR):c.3548A>G (p.His1183Arg)	MTR (H1120R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3296755	NM_000254.3(MTR):c.3656A>G (p.Tyr1219Cys)	MTR (Y1156C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1500678	NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg)	MTR (K1226R +2 more)	Single nucleotide variant (missense variant)	Methylcobalamin deficiency type cblG +1 more	GUncertain significance
Select item 3217485	NM_000254.3(MTR):c.3739A>G (p.Ile1247Val)	MTR (I1184V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876630	NM_000254.3(MTR):c.3770G>T (p.Gly1257Val)	MTR (G1257V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

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Items: 57