"Ambry Genetics"[submitter] AND "MTARC1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3213315	NM_022746.4(MTARC1):c.11C>T (p.Ala4Val)	MTARC1 (A4V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213357	NM_022746.4(MTARC1):c.37G>A (p.Val13Ile)	MTARC1 (V13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213363	NM_022746.4(MTARC1):c.44T>A (p.Leu15His)	MTARC1 (L15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213320	NM_022746.4(MTARC1):c.124C>T (p.Arg42Cys)	MTARC1 (R42C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470170	NM_022746.4(MTARC1):c.152T>C (p.Leu51Pro)	MTARC1 (L51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213327	NM_022746.4(MTARC1):c.178C>G (p.Gln60Glu)	MTARC1 (Q60E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213332	NM_022746.4(MTARC1):c.212G>C (p.Gly71Ala)	MTARC1 (G71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213334	NM_022746.4(MTARC1):c.227A>T (p.Glu76Val)	MTARC1 (E76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213337	NM_022746.4(MTARC1):c.269G>A (p.Arg90Gln)	MTARC1 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213344	NM_022746.4(MTARC1):c.313A>T (p.Thr105Ser)	MTARC1 (T105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480096	NM_022746.4(MTARC1):c.329C>T (p.Pro110Leu)	MTARC1 (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542159	NM_022746.4(MTARC1):c.332G>A (p.Arg111His)	MTARC1 (R111H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213351	NM_022746.4(MTARC1):c.374C>T (p.Thr125Ile)	MTARC1 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213356	NM_022746.4(MTARC1):c.376C>T (p.Leu126Phe)	MTARC1 (L126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213365	NM_022746.4(MTARC1):c.457G>A (p.Gly153Ser)	MTARC1 (G153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213367	NM_022746.4(MTARC1):c.499C>A (p.Gln167Lys)	MTARC1 (Q167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213371	NM_022746.4(MTARC1):c.535C>T (p.Arg179Cys)	MTARC1 (R179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213373	NM_022746.4(MTARC1):c.572G>T (p.Arg191Leu)	MTARC1 (R191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213378	NM_022746.4(MTARC1):c.662T>C (p.Leu221Pro)	MTARC1 (L221P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213380	NM_022746.4(MTARC1):c.665C>T (p.Ala222Val)	MTARC1 (A222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213384	NM_022746.4(MTARC1):c.737G>C (p.Cys246Ser)	MTARC1 (C246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213388	NM_022746.4(MTARC1):c.745T>C (p.Tyr249His)	MTARC1 (Y249H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213393	NM_022746.4(MTARC1):c.749C>T (p.Ala250Val)	MTARC1 (A250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545215	NM_022746.4(MTARC1):c.799G>C (p.Val267Leu)	MTARC1 (V267L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3213398	NM_022746.4(MTARC1):c.890A>G (p.Tyr297Cys)	LOC126806018, MTARC1 (Y297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513503	NM_022746.4(MTARC1):c.892C>T (p.Arg298Cys)	LOC126806018, MTARC1 (R298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213405	NM_022746.4(MTARC1):c.893G>A (p.Arg298His)	LOC126806018, MTARC1 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213410	NM_022746.4(MTARC1):c.914G>A (p.Arg305Gln)	LOC126806018, MTARC1 (R305Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 28