ClinVar for Gene (Select 100129461) - 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-AS1, PPP1R3G +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 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 3156157	NM_006638.4(RPP40):c.88C>G (p.Arg30Gly)	LYRM4-AS1, RPP40 (R30G)	Single nucleotide variant (non-coding transcript 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 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 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 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 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 2302174	NM_006638.4(RPP40):c.10C>G (p.Leu4Val)	LYRM4-AS1, RPP40 (L4V)	Single nucleotide variant (missense variant)	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)	PPP1R3G, LYRM4 +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 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 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 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 1292605	NM_020408.6(LYRM4):c.87-97A>G	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283276	NM_020408.6(LYRM4):c.207+29952C>A	LYRM4, LYRM4-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1283110	NM_020408.6(LYRM4):c.87-111G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269043	NM_020408.6(LYRM4):c.207+201G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260570	NM_020408.6(LYRM4):c.208-34617G>C	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258096	NM_020408.6(LYRM4):c.208-35015C>T	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174280	NM_020408.6(LYRM4):c.207+29634del	LYRM4, LYRM4-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1028165	NM_020408.6(LYRM4):c.172A>G (p.Lys58Glu)	LYRM4, LYRM4-AS1 (K58E)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 19	GUncertain significance
Select item 680636	NM_020408.6(LYRM4):c.208-258dup	LYRM4, LYRM4-AS1	Duplication (intron variant)	not provided	GBenign
Select item 680632	NM_020408.6(LYRM4):c.208-220G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680631	NM_020408.6(LYRM4):c.208-256G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680630	NM_020408.6(LYRM4):c.208-34942G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680629	NM_020408.6(LYRM4):c.208-273G>T	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680628	NM_020408.6(LYRM4):c.208-34464A>G	LYRM4-AS1, LYRM4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680627	NM_020408.6(LYRM4):c.208-34467G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676148	NM_020408.6(LYRM4):c.87-39G>A	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420286	NM_020408.6(LYRM4):c.87-18del	LYRM4, LYRM4-AS1	Deletion (intron variant)	not specified	GLikely benign
Select item 383025	NM_020408.6(LYRM4):c.207+18T>C	LYRM4, LYRM4-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic

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