"GeneDx"[submitter] AND "MTSS2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 3367916	NM_138383.3(MTSS2):c.2044del (p.Val682fs)	MTSS2 (V682fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3375723	NM_138383.3(MTSS2):c.1790C>A (p.Thr597Lys)	MTSS2 (T597K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373375	NM_138383.3(MTSS2):c.1739G>T (p.Ser580Ile)	MTSS2 (S580I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372478	NM_138383.3(MTSS2):c.1690_1719del (p.Ile564_Thr573del)	MTSS2	Deletion	not provided	GUncertain significance
Select item 2580838	NM_138383.3(MTSS2):c.1574A>C (p.Gln525Pro)	MTSS2 (Q525P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252268	NM_138383.3(MTSS2):c.1307A>C (p.His436Pro)	MTSS2 (H436P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369296	NM_138383.3(MTSS2):c.1150C>A (p.His384Asn)	MTSS2 (H384N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366211	NM_138383.3(MTSS2):c.1142T>G (p.Val381Gly)	MTSS2 (V381G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580836	NM_138383.3(MTSS2):c.1073C>T (p.Ser358Phe)	MTSS2 (S358F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1288286	NM_138383.3(MTSS2):c.756G>A (p.Ser252=)	MTSS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2662774	NM_138383.3(MTSS2):c.536A>G (p.Glu179Gly)	MTSS2 (E179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377970	NM_138383.3(MTSS2):c.487C>T (p.Gln163Ter)	MTSS2 (Q163*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3372274	NM_138383.3(MTSS2):c.330_334dup (p.Glu112fs)	MTSS2 (E112fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2580834	NM_138383.3(MTSS2):c.235A>G (p.Thr79Ala)	MTSS2 (T79A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370691	NM_138383.3(MTSS2):c.206G>A (p.Gly69Glu)	MTSS2 (G69E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359822	NM_138383.3(MTSS2):c.101C>G (p.Ser34Cys)	MTSS2 (S34C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance