ClinVar for Gene (Select 90523) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337290	NM_001281747.2(MLIP):c.485del (p.Pro162fs)	LOC126859697, MLIP (P151fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3295182	NM_001281747.2(MLIP):c.2627C>A (p.Ser876Tyr)	MLIP (S865Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3295181	NM_001281747.2(MLIP):c.2896C>T (p.Leu966Phe)	MLIP (L431F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257587	NM_001281747.2(MLIP):c.1743G>A (p.Thr581=)	MLIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3253232	NM_001281747.2(MLIP):c.1561A>G (p.Met521Val)	MLIP (M510V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3203148	NM_001281747.2(MLIP):c.2309A>G (p.Lys770Arg)	MLIP (K759R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203019	NM_001281747.2(MLIP):c.640G>T (p.Gly214Trp)	LOC126859697, MLIP (G214W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202958	NM_001281747.2(MLIP):c.560G>A (p.Arg187His)	LOC126859697, MLIP (R176H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202660	NM_001281747.2(MLIP):c.2911G>A (p.Ala971Thr)	MLIP (A436T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050298	NM_001281747.2(MLIP):c.2452del (p.Ser818fs)	MLIP (S283fs +2 more)	Deletion (frameshift variant)	MLIP-related disorder	GLikely pathogenic
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 2592594	NM_001281747.2(MLIP):c.329C>T (p.Ser110Leu)	LOC126859697, MLIP (S99L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2571252	NM_001281747.2(MLIP):c.2589+1G>A	MLIP	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2555685	NM_001281747.2(MLIP):c.2620G>A (p.Val874Ile)	MLIP (V339I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550640	NM_001281747.2(MLIP):c.2221T>A (p.Tyr741Asn)	MLIP (Y730N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537322	NM_001281747.2(MLIP):c.641G>A (p.Gly214Glu)	LOC126859697, MLIP (G214E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489385	NM_001281747.2(MLIP):c.538A>T (p.Ser180Cys)	LOC126859697, MLIP (S180C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484834	NM_001281747.2(MLIP):c.344C>T (p.Thr115Met)	LOC126859697, MLIP (T104M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481388	NM_001281747.2(MLIP):c.357A>C (p.Glu119Asp)	LOC126859697, MLIP (E108D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471243	NM_001281747.2(MLIP):c.488G>C (p.Gly163Ala)	LOC126859697, MLIP (G163A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469475	NM_001281747.2(MLIP):c.2701G>A (p.Asp901Asn)	MLIP (D366N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455566	NM_001281747.2(MLIP):c.371C>A (p.Ala124Glu)	LOC126859697, MLIP (A124E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385022	NM_001281747.2(MLIP):c.391C>A (p.Gln131Lys)	LOC126859697, MLIP (Q120K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376824	NM_001281747.2(MLIP):c.2808G>C (p.Gln936His)	MLIP (Q401H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371560	NM_001281747.2(MLIP):c.2237G>A (p.Ser746Asn)	MLIP (S735N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2347390	NM_001281747.2(MLIP):c.2750T>C (p.Leu917Pro)	MLIP (L382P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337577	NM_001281747.2(MLIP):c.2576C>G (p.Ser859Cys)	MLIP (S848C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288573	NM_001281747.2(MLIP):c.620T>C (p.Met207Thr)	LOC126859697, MLIP (M196T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283352	NM_001281747.2(MLIP):c.428T>C (p.Ile143Thr)	LOC126859697, MLIP (I132T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255389	NM_001281747.2(MLIP):c.2298T>A (p.Asp766Glu)	MLIP (D231E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246985	NM_138569.3(MLIP):c.40A>G (p.Lys14Glu)	MLIP (K14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2219798	NM_001281747.2(MLIP):c.2608C>T (p.Arg870Cys)	MLIP (R335C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 1801327	NM_001281747.2(MLIP):c.2284C>T (p.Gln762Ter)	MLIP (Q762* +2 more)	Single nucleotide variant (nonsense)	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GPathogenic
Select item 1801326	NM_001281747.2(MLIP):c.2273del (p.Leu758fs)	MLIP (L223fs +2 more)	Deletion (frameshift variant)	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GPathogenic
Select item 1801325	NM_001281747.2(MLIP):c.1825A>T (p.Lys609Ter)	MLIP (K609* +1 more)	Single nucleotide variant (nonsense +1 more)	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GPathogenic
Select item 1801324	NM_001281747.2(MLIP):c.2530C>T (p.Arg844Ter)	MLIP (R844* +2 more)	Single nucleotide variant (nonsense)	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GPathogenic
Select item 1801322	NM_001281747.2(MLIP):c.628C>T (p.Gln210Ter)	LOC126859697, MLIP (Q210*)	Single nucleotide variant (nonsense)	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GPathogenic
Select item 1801321	NM_001281747.2(MLIP):c.2443del (p.Ser815fs)	MLIP (S280fs +2 more)	Deletion (frameshift variant)	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GPathogenic
Select item 1801320	NM_001281747.2(MLIP):c.1832del (p.Phe611fs)	MLIP (F600fs +1 more)	Deletion (frameshift variant +1 more)	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GPathogenic
Select item 1801319	NM_001281747.2(MLIP):c.1739del (p.His580fs)	MLIP (H569fs +1 more)	Deletion (frameshift variant +1 more)	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis	GPathogenic
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1249497	NM_001281747.2(MLIP):c.2563T>A (p.Ser855Thr)	MLIP (S320T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 814814	GRCh37/hg19 6p12.1(chr6:53912334-54239084)x1	MLIP, TINAG	Copy number loss	not provided	GUncertain significance
Select item 790577	NM_001281747.2(MLIP):c.2447C>G (p.Ser816Cys)	MLIP (S281C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769683	NM_001281747.2(MLIP):c.2441A>G (p.His814Arg)	MLIP (H279R +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442759	GRCh37/hg19 6p12.1(chr6:53891139-54620129)x3	MLIP, TINAG	Copy number gain	See cases	GUncertain significance
Select item 395618	GRCh37/hg19 6p12.1(chr6:53661282-55147137)x3	LRRC1, MLIP +4 more	Copy number gain	See cases	GUncertain significance
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 146157	GRCh38/hg38 6p12.1(chr6:53931543-54584920)x3	LOC101927189, LOC126859696 +5 more	Copy number gain	See cases	GBenign
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	BMP5, COL21A1 +18 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 57