ClinVar for Gene (Select 57128) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309477	NM_001145115.3(PPP1R3G):c.976C>A (p.His326Asn)	LYRM4, LYRM4-AS1 +1 more (H326N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292398	NM_020408.6(LYRM4):c.207+29656G>A	LYRM4, LYRM4-AS1 (A76T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292397	NM_020408.6(LYRM4):c.184G>A (p.Asp62Asn)	LYRM4, LYRM4-AS1 (D62N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246235	NC_000006.11:g.(?_5216831)_(5216991_?)del	LYRM4	Deletion	not provided	GUncertain significance
Select item 3246032	NC_000006.11:g.(?_5109657)_(5771662_?)del	FARS2, LYRM4	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 3217711	NM_001145115.3(PPP1R3G):c.89C>T (p.Pro30Leu)	LYRM4, LYRM4-AS1 +1 more (P30L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217710	NM_001145115.3(PPP1R3G):c.887G>A (p.Gly296Asp)	LYRM4, LYRM4-AS1 +1 more (G296D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217709	NM_001145115.3(PPP1R3G):c.835G>A (p.Ala279Thr)	LYRM4, LYRM4-AS1 +1 more (A279T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217708	NM_001145115.3(PPP1R3G):c.814C>G (p.Leu272Val)	LYRM4, LYRM4-AS1 +1 more (L272V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217706	NM_001145115.3(PPP1R3G):c.587G>A (p.Arg196Gln)	LYRM4, LYRM4-AS1 +1 more (R196Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217705	NM_001145115.3(PPP1R3G):c.586C>G (p.Arg196Gly)	LYRM4, LYRM4-AS1 +1 more (R196G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217704	NM_001145115.3(PPP1R3G):c.491T>C (p.Leu164Pro)	LYRM4, LYRM4-AS1 +1 more (L164P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217703	NM_001145115.3(PPP1R3G):c.485C>T (p.Ser162Leu)	LYRM4, LYRM4-AS1 +1 more (S162L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217701	NM_001145115.3(PPP1R3G):c.248G>C (p.Arg83Pro)	LYRM4, LYRM4-AS1 +1 more (R83P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217700	NM_001145115.3(PPP1R3G):c.235C>G (p.Arg79Gly)	LYRM4, LYRM4-AS1 +1 more (R79G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217699	NM_001145115.3(PPP1R3G):c.17C>G (p.Ala6Gly)	LYRM4, LYRM4-AS1 +1 more (A6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121718	NM_020408.6(LYRM4):c.63G>C (p.Lys21Asn)	FARS2, LOC129995672 +1 more (K21N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121716	NM_020408.6(LYRM4):c.182G>A (p.Arg61Lys)	LYRM4, LYRM4-AS1 (R61K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121715	NM_020408.6(LYRM4):c.176C>G (p.Ala59Gly)	LYRM4, LYRM4-AS1 (A59G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062919	GRCh37/hg19 6p25.1(chr6:5200686-5396374)x1	FARS2, LYRM4	Copy number loss	not specified	GUncertain significance
Select item 3062905	GRCh37/hg19 6p25.1(chr6:5216289-5316709)x1	FARS2, LYRM4	Copy number loss	not specified	GUncertain significance
Select item 3062881	GRCh37/hg19 6p25.1(chr6:5172636-5200031)x1	LYRM4	Copy number loss	not specified	GPathogenic
Select item 3058185	NM_020408.6(LYRM4):c.*9G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (3 prime UTR variant +2 more)	LYRM4-related disorder	GLikely benign
Select item 3042816	NM_020408.6(LYRM4):c.207+29632_207+29634dup	LYRM4, LYRM4-AS1	Duplication (intron variant)	LYRM4-related disorder	GLikely benign
Select item 3031832	NM_020408.6(LYRM4):c.208-29235A>G	LYRM4, LYRM4-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	LYRM4-related disorder	GLikely benign
Select item 3030682	NM_020408.6(LYRM4):c.208-5T>C	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	LYRM4-related disorder	GLikely benign
Select item 3023959	NM_020408.6(LYRM4):c.106A>G (p.Ile36Val)	LYRM4, LYRM4-AS1 (I36V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021698	NM_020408.6(LYRM4):c.93T>C (p.Tyr31=)	LYRM4, LYRM4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890200	NM_020408.6(LYRM4):c.215T>C (p.Ile72Thr)	LYRM4, LYRM4-AS1 (I72T)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2691678	NC_000006.11:g.(?_5108652)_(5261184_?)del	LYRM4	Deletion	not specified	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2613638	NM_020408.6(LYRM4):c.208-34718C>G	LYRM4, LYRM4-AS1 (S87R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539394	NM_020408.6(LYRM4):c.203G>C (p.Arg68Pro)	LYRM4, LYRM4-AS1 (R68P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538334	NM_001145115.3(PPP1R3G):c.997T>C (p.Cys333Arg)	LYRM4, LYRM4-AS1 +1 more (C333R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534082	NM_001145115.3(PPP1R3G):c.86C>G (p.Ala29Gly)	LYRM4, LYRM4-AS1 +1 more (A29G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519320	NM_001145115.3(PPP1R3G):c.752G>C (p.Arg251Pro)	LYRM4, LYRM4-AS1 +1 more (R251P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513201	NM_020408.6(LYRM4):c.169A>C (p.Asn57His)	LYRM4, LYRM4-AS1 (N57H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2500183	NC_000006.11:g.(?_5172693)_(5459957_?)del	FARS2, LYRM4	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2494043	NM_001145115.3(PPP1R3G):c.17C>A (p.Ala6Glu)	LYRM4, LYRM4-AS1 +1 more (A6E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492804	NM_020408.6(LYRM4):c.207+29798G>T	LYRM4, LYRM4-AS1 (S123I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482514	NM_020408.6(LYRM4):c.200G>A (p.Arg67His)	LYRM4, LYRM4-AS1 (R67H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475404	NM_020408.6(LYRM4):c.207+29680G>T	LYRM4, LYRM4-AS1 (D84Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463708	NM_001145115.3(PPP1R3G):c.362C>A (p.Pro121Gln)	LYRM4, LYRM4-AS1 +1 more (P121Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2458011	NM_001145115.3(PPP1R3G):c.569T>A (p.Leu190His)	LYRM4, LYRM4-AS1 +1 more (L190H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425614	NC_000006.11:g.(?_5216831)_(5431425_?)del	FARS2, LYRM4	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2425612	NC_000006.11:g.(?_5109657)_(6320826_?)del	F13A1, FARS2 +2 more	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 2402657	NM_020408.6(LYRM4):c.40C>T (p.Arg14Trp)	FARS2, LOC129995672 +1 more (R14W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402656	NM_020408.6(LYRM4):c.34C>G (p.Leu12Val)	FARS2, LOC129995672 +1 more (L12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401014	NM_001145115.3(PPP1R3G):c.433G>C (p.Val145Leu)	LYRM4, LYRM4-AS1 +1 more (V145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400843	NM_001145115.3(PPP1R3G):c.89C>G (p.Pro30Arg)	LYRM4, LYRM4-AS1 +1 more (P30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394319	NM_001145115.3(PPP1R3G):c.376G>A (p.Ala126Thr)	LYRM4, LYRM4-AS1 +1 more (A126T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360882	NM_001145115.3(PPP1R3G):c.834G>C (p.Glu278Asp)	LYRM4, LYRM4-AS1 +1 more (E278D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342467	NM_001145115.3(PPP1R3G):c.118G>A (p.Asp40Asn)	LYRM4, LYRM4-AS1 +1 more (D40N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341107	NM_001145115.3(PPP1R3G):c.919C>T (p.Pro307Ser)	LYRM4, LYRM4-AS1 +1 more (P307S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340034	NM_001145115.3(PPP1R3G):c.160C>G (p.Leu54Val)	LYRM4, LYRM4-AS1 +1 more (L54V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336843	NM_001145115.3(PPP1R3G):c.901C>A (p.His301Asn)	LYRM4, LYRM4-AS1 +1 more (H301N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336019	NM_020408.6(LYRM4):c.208-34698G>C	LYRM4, LYRM4-AS1 (S94T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332273	NM_001145115.3(PPP1R3G):c.787G>C (p.Val263Leu)	LYRM4, LYRM4-AS1 +1 more (V263L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332195	NM_001145115.3(PPP1R3G):c.992A>G (p.Tyr331Cys)	LYRM4, LYRM4-AS1 +1 more (Y331C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330551	NM_001145115.3(PPP1R3G):c.440A>T (p.His147Leu)	LYRM4, LYRM4-AS1 +1 more (H147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309767	NM_001145115.3(PPP1R3G):c.556G>A (p.Val186Met)	LYRM4, LYRM4-AS1 +1 more (V186M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300712	NM_001145115.3(PPP1R3G):c.935C>T (p.Pro312Leu)	LYRM4, LYRM4-AS1 +1 more (P312L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280968	NM_001145115.3(PPP1R3G):c.329G>A (p.Gly110Asp)	LYRM4, LYRM4-AS1 +1 more (G110D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234692	NM_001145115.3(PPP1R3G):c.199C>T (p.Pro67Ser)	LYRM4, LYRM4-AS1 +1 more (P67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232380	NM_001145115.3(PPP1R3G):c.248G>A (p.Arg83His)	LYRM4, LYRM4-AS1 +1 more (R83H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226140	NM_001145115.3(PPP1R3G):c.566C>G (p.Pro189Arg)	LYRM4, LYRM4-AS1 +1 more (P189R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216052	NM_001145115.3(PPP1R3G):c.533G>C (p.Gly178Ala)	LYRM4, LYRM4-AS1 +1 more (G178A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213251	NM_020408.6(LYRM4):c.207+29717A>G	LYRM4, LYRM4-AS1 (K96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213087	NM_001145115.3(PPP1R3G):c.1054G>A (p.Ala352Thr)	LYRM4, LYRM4-AS1 +1 more (A352T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206381	NM_001145115.3(PPP1R3G):c.611C>G (p.Pro204Arg)	LYRM4, LYRM4-AS1 +1 more (P204R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2166971	NM_020408.6(LYRM4):c.229T>G (p.Ser77Ala)	LYRM4, LYRM4-AS1 (S77A)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2148796	NM_020408.6(LYRM4):c.75C>T (p.Ala25=)	FARS2, LOC129995672 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2098249	NM_020408.6(LYRM4):c.124G>A (p.Glu42Lys)	LYRM4, LYRM4-AS1 (E42K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912189	NM_020408.6(LYRM4):c.187C>T (p.Leu63Phe)	LYRM4, LYRM4-AS1 (L63F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809300	GRCh37/hg19 6p25.1(chr6:5132544-5407464)x1	FARS2, LYRM4	Copy number loss	not provided	GUncertain significance
Select item 1708183	GRCh37/hg19 6p25.1(chr6:5137260-5409721)x1	FARS2, LYRM4	Copy number loss	See cases	GUncertain significance
Select item 1644880	NM_020408.6(LYRM4):c.109A>C (p.Arg37=)	LYRM4, LYRM4-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527219	GRCh37/hg19 6p25.1(chr6:5248338-5395099)	FARS2, LYRM4	Copy number loss	not specified	GUncertain significance
Select item 1527218	GRCh37/hg19 6p25.1(chr6:5210792-5339437)	LYRM4, FARS2	Copy number loss	not specified	GUncertain significance
Select item 1527217	GRCh37/hg19 6p25.1(chr6:5081988-5401617)	FARS2, LYRM4 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1522618	NM_020408.6(LYRM4):c.36_37del (p.Tyr13fs)	FARS2, LOC129995672 +1 more (Y13fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1499608	NM_020408.6(LYRM4):c.8C>T (p.Ala3Val)	FARS2, LOC129995672 +1 more (A3V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1450668	NC_000006.11:g.(?_5260861)_(5369435_?)del	FARS2, LYRM4	Deletion	Combined oxidative phosphorylation defect type 14	GPathogenic
Select item 1445399	NC_000006.11:g.(?_5109657)_(5369435_?)dup	FARS2, LYRM4	Duplication	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1440586	NC_000006.11:g.(?_5109657)_(5404954_?)dup	FARS2, LYRM4	Duplication	Combined oxidative phosphorylation defect type 14	GUncertain significance
Select item 1417275	NM_020408.6(LYRM4):c.19G>A (p.Ala7Thr)	FARS2, LOC129995672 +1 more (A7T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1340121	GRCh37/hg19 6p25.1(chr6:5125950-5431584)x1	FARS2, LYRM4	Copy number loss	not provided	GUncertain significance
Select item 1318205	NC_000006.12:g.5261155C>T	FARS2, LYRM4	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1317893	NM_020408.6(LYRM4):c.86+248G>A	FARS2, LYRM4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317871	NM_020408.6(LYRM4):c.207+30081G>C	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317736	NM_020408.6(LYRM4):c.*7G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1317633	NM_020408.6(LYRM4):c.207+29892C>T	LYRM4, LYRM4-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1316800	NM_020408.6(LYRM4):c.207+274dup	LYRM4, LYRM4-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1316696	NM_020408.6(LYRM4):c.208-34463T>C	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316427	NM_020408.6(LYRM4):c.207+29913G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1294407	NM_020408.6(LYRM4):c.*65A>C	LYRM4, LYRM4-AS1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 1293909	NC_000006.12:g.5261241_5261264del	FARS2, LYRM4	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1292605	NM_020408.6(LYRM4):c.87-97A>G	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292511	NM_020408.6(LYRM4):c.86+130G>C	FARS2, LOC129995672 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign

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