"GeneDx"[submitter] AND "MARS2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 1213265	NC_000002.12:g.197705211C>T	LOC129935364, MARS2	Single nucleotide variant	not provided	GLikely benign
Select item 1209283	NC_000002.12:g.197705227G>T	MARS2, LOC129935364	Single nucleotide variant	not provided	GLikely benign
Select item 1286037	NM_138395.4(MARS2):c.-26T>G	LOC129935364, MARS2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 214631	NM_138395.4(MARS2):c.5T>G (p.Leu2Arg)	LOC129935364, MARS2 (L2R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138169	NM_138395.4(MARS2):c.12G>A (p.Thr4=)	LOC129935364, MARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 138170	NM_138395.4(MARS2):c.24C>G (p.Arg8=)	MARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1195683	NM_138395.4(MARS2):c.43G>A (p.Ala15Thr)	MARS2 (A15T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 516163	NM_138395.4(MARS2):c.60C>T (p.Leu20=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 389996	NM_138395.4(MARS2):c.87C>T (p.Tyr29=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 681427	NM_138395.4(MARS2):c.93G>T (p.Ser31=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 379723	NM_138395.4(MARS2):c.124G>A (p.Asp42Asn)	MARS2 (D42N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 214632	NM_138395.4(MARS2):c.145A>G (p.Thr49Ala)	MARS2 (T49A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3370078	NM_138395.4(MARS2):c.169G>A (p.Ala57Thr)	LOC129935365, MARS2 (A57T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418288	NM_138395.4(MARS2):c.175C>T (p.His59Tyr)	LOC129935365, MARS2 (H59Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1327164	NM_138395.4(MARS2):c.182G>A (p.Gly61Glu)	LOC129935365, MARS2 (G61E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3364143	NM_138395.4(MARS2):c.194C>T (p.Ser65Leu)	LOC129935365, MARS2 (S65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707918	NM_138395.4(MARS2):c.247A>G (p.Thr83Ala)	MARS2 (T83A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 379170	NM_138395.4(MARS2):c.322C>T (p.Leu108=)	MARS2, LOC129935366	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1315819	NM_138395.4(MARS2):c.368A>T (p.Gln123Leu)	MARS2 (Q123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372977	NM_138395.4(MARS2):c.389T>C (p.Ile130Thr)	MARS2 (I130T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385094	NM_138395.4(MARS2):c.408C>G (p.Ile136Met)	MARS2 (I136M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546310	NM_138395.4(MARS2):c.409C>T (p.Arg137Cys)	MARS2 (R137C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316553	NM_138395.4(MARS2):c.410_411delinsTA (p.Arg137Leu)	MARS2 (R137L)	Indel (missense variant)	not provided	GUncertain significance
Select item 138167	NM_138395.4(MARS2):c.471C>T (p.Arg157=)	MARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1206926	NM_138395.4(MARS2):c.549C>T (p.Thr183=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214625	NM_138395.4(MARS2):c.606A>G (p.Pro202=)	MARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 516164	NM_138395.4(MARS2):c.697A>G (p.Ile233Val)	MARS2 (I233V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1179556	NM_138395.4(MARS2):c.720C>T (p.His240=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318165	NM_138395.4(MARS2):c.740A>G (p.Asp247Gly)	MARS2 (D247G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443547	NM_138395.4(MARS2):c.746A>T (p.Glu249Val)	MARS2 (E249V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378110	NM_138395.4(MARS2):c.748C>T (p.Leu250=)	MARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2721918	NM_138395.4(MARS2):c.763G>A (p.Val255Met)	MARS2 (V255M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373304	NM_138395.4(MARS2):c.778A>G (p.Ser260Gly)	MARS2 (S260G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392497	NM_138395.4(MARS2):c.801G>C (p.Pro267=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 449936	NM_138395.4(MARS2):c.872del (p.Gly291fs)	MARS2 (G291fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 3343252	NM_138395.4(MARS2):c.929A>T (p.Lys310Met)	MARS2 (K310M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 510579	NM_138395.4(MARS2):c.933C>T (p.Asp311=)	MARS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214629	NM_138395.4(MARS2):c.1094A>G (p.Tyr365Cys)	MARS2 (Y365C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316130	NM_138395.4(MARS2):c.1151G>A (p.Cys384Tyr)	MARS2 (C384Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571951	NM_138395.4(MARS2):c.1159T>A (p.Tyr387Asn)	MARS2 (Y387N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 748613	NM_138395.4(MARS2):c.1173G>C (p.Val391=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 758671	NM_138395.4(MARS2):c.1207T>C (p.Leu403=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526290	NM_138395.4(MARS2):c.1226G>A (p.Arg409Gln)	MARS2 (R409Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620396	NM_138395.4(MARS2):c.1240A>T (p.Arg414Ter)	MARS2 (R414*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1321148	NM_138395.4(MARS2):c.1241G>T (p.Arg414Ile)	MARS2 (R414I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 214630	NM_138395.4(MARS2):c.1247A>C (p.Asn416Thr)	MARS2 (N416T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199887	NM_138395.4(MARS2):c.1253C>T (p.Ser418Phe)	MARS2 (S418F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379648	NM_138395.4(MARS2):c.1287C>T (p.Phe429=)	MARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 513503	NM_138395.4(MARS2):c.1297C>G (p.Pro433Ala)	MARS2 (P433A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 388153	NM_138395.4(MARS2):c.1410T>C (p.Tyr470=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 138168	NM_138395.4(MARS2):c.1580T>C (p.Val527Ala)	MARS2 (V527A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 214627	NM_138395.4(MARS2):c.1615C>T (p.Leu539=)	MARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1316136	NM_138395.4(MARS2):c.1721G>T (p.Gly574Val)	MARS2 (G574V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 378111	NM_138395.4(MARS2):c.1761G>T (p.Leu587=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 379325	NM_138395.4(MARS2):c.1775G>A (p.Arg592Gln)	MARS2 (R592Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1247687	NM_138395.4(MARS2):c.166_168dup	MARS2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1317498	NM_138395.4(MARS2):c.248_261del	MARS2	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61