92935[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
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 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 154446	GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1	LOC129935350, LOC129935351 +69 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
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 3058265	NM_138395.4(MARS2):c.-3A>G	LOC129935364, MARS2	Single nucleotide variant (5 prime UTR variant)	MARS2-related disorder	GLikely benign
Select item 100660	NM_138395.4(MARS2):c.2_*1dup (p.Met1_Ter594=)	LOC129935364, MARS2	Duplication (no sequence alteration +1 more)	Spastic ataxia 3	GPathogenic
Select item 3233494	NM_138395.4(MARS2):c.1A>G (p.Met1Val)	LOC129935364, MARS2 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1962606	NM_138395.4(MARS2):c.3G>C (p.Met1Ile)	LOC129935364, MARS2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1910595	NM_138395.4(MARS2):c.4C>G (p.Leu2Val)	LOC129935364, MARS2 (L2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2695358	NM_138395.4(MARS2):c.7C>T (p.Arg3Ter)	LOC129935364, MARS2 (R3*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1964942	NM_138395.4(MARS2):c.9A>G (p.Arg3=)	LOC129935364, MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 138169	NM_138395.4(MARS2):c.12G>A (p.Thr4=)	LOC129935364, MARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1910254	NM_138395.4(MARS2):c.13T>A (p.Ser5Thr)	LOC129935364, MARS2 (S5T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1925010	NM_138395.4(MARS2):c.16G>A (p.Val6Ile)	LOC129935364, MARS2 (V6I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3123695	NM_138395.4(MARS2):c.22C>A (p.Arg8Ser)	MARS2 (R8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1421018	NM_138395.4(MARS2):c.23G>T (p.Arg8Leu)	MARS2 (R8L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118240	NM_138395.4(MARS2):c.24C>T (p.Arg8=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 138170	NM_138395.4(MARS2):c.24C>G (p.Arg8=)	MARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1960872	NM_138395.4(MARS2):c.26T>A (p.Leu9Gln)	MARS2 (L9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050884	NM_138395.4(MARS2):c.38C>T (p.Thr13Met)	MARS2 (T13M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3039688	NM_138395.4(MARS2):c.48T>C (p.Ser16=)	MARS2	Single nucleotide variant (synonymous variant)	MARS2-related disorder	GLikely benign
Select item 1630116	NM_138395.4(MARS2):c.52C>T (p.Leu18=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516163	NM_138395.4(MARS2):c.60C>T (p.Leu20=)	MARS2	Single nucleotide variant (synonymous variant)	MARS2-related disorder +1 more	GBenign/Likely benign
Select item 1512982	NM_138395.4(MARS2):c.61C>G (p.Leu21Val)	MARS2 (L21V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 389996	NM_138395.4(MARS2):c.87C>T (p.Tyr29=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181435	NM_138395.4(MARS2):c.88A>T (p.Ser30Cys)	MARS2 (S30C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681427	NM_138395.4(MARS2):c.93G>T (p.Ser31=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083410	NM_138395.4(MARS2):c.115G>A (p.Asp39Asn)	MARS2 (D39N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1929342	NM_138395.4(MARS2):c.147A>G (p.Thr49=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486955	NM_138395.4(MARS2):c.151A>G (p.Ile51Val)	MARS2 (I51V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744662	NM_138395.4(MARS2):c.156C>T (p.Phe52=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568969	NM_138395.4(MARS2):c.159C>T (p.Tyr53=)	LOC129935365, MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1643817	NM_138395.4(MARS2):c.183G>T (p.Gly61=)	LOC129935365, MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724135	NM_138395.4(MARS2):c.195G>A (p.Ser65=)	LOC129935365, MARS2	Single nucleotide variant (synonymous variant)	MARS2-related disorder +1 more	GLikely benign
Select item 1908840	NM_138395.4(MARS2):c.198A>G (p.Ala66=)	LOC129935365, MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2145040	NM_138395.4(MARS2):c.199C>G (p.Leu67Val)	LOC129935365, MARS2 (L67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170146	NM_138395.4(MARS2):c.202C>T (p.Leu68=)	LOC129935365, MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902437	NM_138395.4(MARS2):c.214C>T (p.Leu72=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917014	NM_138395.4(MARS2):c.216A>G (p.Leu72=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545791	NM_138395.4(MARS2):c.231C>T (p.Arg77=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842561	NM_138395.4(MARS2):c.241C>A (p.Pro81Thr)	MARS2 (P81T)	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 1562231	NM_138395.4(MARS2):c.249G>A (p.Thr83=)	LOC129935366, MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3123696	NM_138395.4(MARS2):c.253G>T (p.Ala85Ser)	LOC129935366, MARS2 (A85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2965888	NM_138395.4(MARS2):c.254C>T (p.Ala85Val)	LOC129935366, MARS2 (A85V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524631	NM_138395.4(MARS2):c.256A>T (p.Thr86Ser)	LOC129935366, MARS2 (T86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744692	NM_138395.4(MARS2):c.318G>C (p.Ala106=)	LOC129935366, MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 379170	NM_138395.4(MARS2):c.322C>T (p.Leu108=)	LOC129935366, MARS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2006237	NM_138395.4(MARS2):c.325del (p.Ala109fs)	LOC129935366, MARS2 (A109fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2911246	NM_138395.4(MARS2):c.329C>T (p.Pro110Leu)	LOC129935366, MARS2 (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638464	NM_138395.4(MARS2):c.341G>T (p.Cys114Phe)	LOC129935366, MARS2 (C114F)	Single nucleotide variant (missense variant)	Spastic ataxia 3	GUncertain significance
Select item 1993445	NM_138395.4(MARS2):c.368A>C (p.Gln123Pro)	MARS2 (Q123P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2433644	NM_138395.4(MARS2):c.375C>G (p.Phe125Leu)	MARS2 (F125L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852624	NM_138395.4(MARS2):c.376C>T (p.Gln126Ter)	MARS2 (Q126*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1931195	NM_138395.4(MARS2):c.407T>G (p.Ile136Ser)	MARS2 (I136S)	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 731590	NM_138395.4(MARS2):c.411C>A (p.Arg137=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1549719	NM_138395.4(MARS2):c.417G>C (p.Thr139=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278615	NM_138395.4(MARS2):c.422C>T (p.Ala141Val)	MARS2 (A141V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193028	NM_138395.4(MARS2):c.424C>T (p.Arg142Trp)	MARS2 (R142W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2906926	NM_138395.4(MARS2):c.447C>T (p.His149=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906035	NM_138395.4(MARS2):c.452G>C (p.Trp151Ser)	MARS2 (W151S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070501	NM_138395.4(MARS2):c.457G>A (p.Val153Met)	MARS2 (V153M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2060542	NM_138395.4(MARS2):c.475C>G (p.Leu159Val)	MARS2 (L159V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 799160	NM_138395.4(MARS2):c.489C>T (p.Gly163=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032416	NM_138395.4(MARS2):c.494A>G (p.Tyr165Cys)	MARS2 (Y165C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2976021	NM_138395.4(MARS2):c.499G>A (p.Gly167Ser)	MARS2 (G167S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2068083	NM_138395.4(MARS2):c.510C>T (p.Cys170=)	MARS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2210644	NM_138395.4(MARS2):c.523T>A (p.Cys175Ser)	MARS2 (C175S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2038091	NM_138395.4(MARS2):c.539C>T (p.Ala180Val)	MARS2 (A180V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960973	NM_138395.4(MARS2):c.548C>T (p.Thr183Ile)	MARS2 (T183I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1577440	NM_138395.4(MARS2):c.549C>G (p.Thr183=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206926	NM_138395.4(MARS2):c.549C>T (p.Thr183=)	MARS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193027	NM_138395.4(MARS2):c.550C>T (p.Gln184Ter)	MARS2 (Q184*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation defect type 25	GPathogenic
Select item 2007468	NM_138395.4(MARS2):c.584T>C (p.Val195Ala)	MARS2 (V195A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699106	NM_138395.4(MARS2):c.590T>A (p.Leu197His)	MARS2 (L197H)	Single nucleotide variant (missense variant)	Spastic ataxia 3	GUncertain significance
Select item 2413941	NM_138395.4(MARS2):c.604C>T (p.Pro202Ser)	MARS2 (P202S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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