ClinVar for Gene (Select 23336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323972	NM_145728.3(SYNM):c.2521G>A (p.Gly841Arg)	SYNM (G841R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323971	NM_145728.3(SYNM):c.713G>A (p.Arg238Gln)	SYNM (R238Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323970	NM_145728.3(SYNM):c.674A>C (p.Glu225Ala)	SYNM, SYNM-AS1 (E225A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3323969	NM_145728.3(SYNM):c.25G>A (p.Gly9Ser)	LOC130058014, SYNM +1 more (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323968	NM_145728.3(SYNM):c.4118A>G (p.Gln1373Arg)	SYNM (Q1373R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323967	NM_145728.3(SYNM):c.1931C>T (p.Thr644Ile)	SYNM (T644I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323966	NM_145728.3(SYNM):c.2358G>C (p.Glu786Asp)	SYNM (E786D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323965	NM_145728.3(SYNM):c.560A>G (p.Tyr187Cys)	SYNM, SYNM-AS1 (Y187C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3323964	NM_145728.3(SYNM):c.2753C>T (p.Ala918Val)	SYNM (A918V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323963	NM_145728.3(SYNM):c.650A>C (p.Gln217Pro)	SYNM, SYNM-AS1 (Q217P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3323962	NM_145728.3(SYNM):c.269G>A (p.Arg90His)	LOC130058014, SYNM +1 more (R90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
Select item 3238995	NM_145728.3(SYNM):c.906C>T (p.Thr302=)	SYNM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3172843	NM_145728.3(SYNM):c.587G>C (p.Arg196Pro)	SYNM, SYNM-AS1 (R196P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3172841	NM_145728.3(SYNM):c.466C>T (p.Arg156Cys)	LOC130058014, SYNM +1 more (R156C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172840	NM_145728.3(SYNM):c.437C>A (p.Ala146Glu)	LOC130058014, SYNM +1 more (A146E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172839	NM_145728.3(SYNM):c.42G>C (p.Glu14Asp)	LOC130058014, SYNM +1 more (E14D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172838	NM_145728.3(SYNM):c.4094T>C (p.Val1365Ala)	SYNM (V1365A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172837	NM_145728.3(SYNM):c.3992C>T (p.Pro1331Leu)	SYNM (P1331L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172836	NM_145728.3(SYNM):c.3335C>T (p.Ala1112Val)	SYNM (A1112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172835	NM_145728.3(SYNM):c.1770G>C (p.Glu590Asp)	SYNM (E590D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172834	NM_145728.3(SYNM):c.1662C>G (p.Ser554Arg)	SYNM (S554R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172833	NM_145728.3(SYNM):c.133G>T (p.Gly45Cys)	LOC130058014, SYNM +1 more (G45C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063393	GRCh37/hg19 15q26.3(chr15:99477386-100023041)x3	IGF1R, LRRC28 +3 more	Copy number gain	not specified	GPathogenic
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 3058385	NM_145728.3(SYNM):c.1034C>T (p.Thr345Ile)	SYNM (T345I)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3054562	NM_145728.3(SYNM):c.258C>T (p.Asp86=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 3054523	NM_145728.3(SYNM):c.51G>A (p.Glu17=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3054038	NM_145728.3(SYNM):c.2906C>T (p.Ser969Phe)	SYNM (S969F)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3053948	NM_145728.3(SYNM):c.801G>A (p.Glu267=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 3053350	NM_145728.3(SYNM):c.330C>T (p.Asp110=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3053288	NM_145728.3(SYNM):c.217G>C (p.Glu73Gln)	LOC130058014, SYNM +1 more (E73Q)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3052885	NM_145728.3(SYNM):c.2238G>A (p.Val746=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 3052863	NM_145728.3(SYNM):c.3978C>T (p.Tyr1326=)	SYNM	Single nucleotide variant (synonymous variant +1 more)	SYNM-related disorder	GBenign
Select item 3052420	NM_145728.3(SYNM):c.3209C>T (p.Thr1070Ile)	SYNM (T1070I)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3052259	NM_145728.3(SYNM):c.111A>C (p.Leu37=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3052149	NM_145728.3(SYNM):c.699G>A (p.Glu233=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 3052041	NM_145728.3(SYNM):c.117G>A (p.Leu39=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3051659	NM_145728.3(SYNM):c.3533C>T (p.Pro1178Leu)	SYNM (P1178L)	Single nucleotide variant (missense variant +1 more)	SYNM-related disorder	GLikely benign
Select item 3051187	NM_145728.3(SYNM):c.3494C>T (p.Thr1165Ile)	SYNM (T1165I)	Single nucleotide variant (missense variant +1 more)	SYNM-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3048253	NM_145728.3(SYNM):c.695A>T (p.Gln232Leu)	SYNM (Q232L)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3047498	NM_145728.3(SYNM):c.2882C>T (p.Pro961Leu)	SYNM (P961L)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3046796	NM_145728.3(SYNM):c.*8A>G	SYNM	Single nucleotide variant (3 prime UTR variant)	SYNM-related disorder	GLikely benign
Select item 3046572	NM_145728.3(SYNM):c.4205G>A (p.Arg1402Lys)	SYNM (R1402K)	Single nucleotide variant (missense variant +1 more)	SYNM-related disorder	GBenign
Select item 3045624	NM_145728.3(SYNM):c.4635A>G (p.Glu1545=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3041138	NM_145728.3(SYNM):c.499C>T (p.Arg167Cys)	LOC130058014, SYNM +1 more (R167C)	Single nucleotide variant (non-coding transcript variant +1 more)	SYNM-related disorder	GLikely benign
Select item 3041056	NM_145728.3(SYNM):c.3173C>T (p.Ala1058Val)	SYNM (A1058V)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3040887	NM_145728.3(SYNM):c.571G>C (p.Val191Leu)	SYNM, SYNM-AS1 (V191L)	Single nucleotide variant (non-coding transcript variant +1 more)	SYNM-related disorder	GLikely benign
Select item 3040198	NM_145728.3(SYNM):c.2700G>A (p.Gly900=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3037005	NM_145728.3(SYNM):c.3051G>T (p.Glu1017Asp)	SYNM (E1017D)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3036721	NM_145728.3(SYNM):c.1998A>G (p.Thr666=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3036567	NM_145728.3(SYNM):c.576C>T (p.Ala192=)	SYNM, SYNM-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SYNM-related disorder	GBenign
Select item 3035872	NM_145728.3(SYNM):c.3194T>C (p.Phe1065Ser)	SYNM (F1065S)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3035829	NM_145728.3(SYNM):c.457A>C (p.Arg153=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 3035393	NM_145728.3(SYNM):c.4033G>C (p.Gly1345Arg)	SYNM (G1345R)	Single nucleotide variant (missense variant +1 more)	SYNM-related disorder	GBenign
Select item 3035351	NM_145728.3(SYNM):c.1595C>T (p.Ser532Phe)	SYNM (S532F)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3035350	NM_145728.3(SYNM):c.3175C>T (p.Pro1059Ser)	SYNM (P1059S)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3035289	NM_145728.3(SYNM):c.2281C>T (p.Pro761Ser)	SYNM (P761S)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3035154	NM_145728.3(SYNM):c.1062A>T (p.Glu354Asp)	SYNM (E354D)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3034822	NM_145728.3(SYNM):c.408G>A (p.Arg136=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GBenign
Select item 3034689	NM_145728.3(SYNM):c.1699C>T (p.Pro567Ser)	SYNM (P567S)	Single nucleotide variant (missense variant)	SYNM-related disorder	GBenign
Select item 3032617	NM_145728.3(SYNM):c.153C>G (p.Gly51=)	LOC130058014, SYNM +1 more	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3032283	NM_145728.3(SYNM):c.1052G>A (p.Arg351Lys)	SYNM (R351K)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3032040	NM_145728.3(SYNM):c.1910C>T (p.Thr637Ile)	SYNM (T637I)	Single nucleotide variant (missense variant)	SYNM-related disorder	GLikely benign
Select item 3031683	NM_145728.3(SYNM):c.519C>T (p.Pro173=)	LOC130058014, SYNM +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	SYNM-related disorder	GLikely benign
Select item 3031508	NM_145728.3(SYNM):c.1839A>G (p.Ala613=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3030296	NM_145728.3(SYNM):c.4416C>T (p.Ile1472=)	SYNM	Single nucleotide variant (synonymous variant)	SYNM-related disorder	GLikely benign
Select item 3025834	NM_145728.3(SYNM):c.1385G>A (p.Gly462Asp)	SYNM (G462D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2671598	Single allele	ADAMTS17, ALDH1A3 +19 more	Deletion	not provided	GPathogenic
Select item 2645743	NM_145728.3(SYNM):c.3606G>T (p.Ser1202=)	SYNM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645742	NM_145728.3(SYNM):c.3269C>T (p.Ser1090Leu)	SYNM (S1090L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645741	NM_145728.3(SYNM):c.3121A>G (p.Arg1041Gly)	SYNM (R1041G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645740	NM_145728.3(SYNM):c.2685G>A (p.Ala895=)	SYNM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645739	NM_145728.3(SYNM):c.797C>T (p.Ala266Val)	SYNM (A266V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2617847	NM_145728.3(SYNM):c.2624G>T (p.Arg875Met)	SYNM (R875M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616967	NM_145728.3(SYNM):c.1856G>A (p.Arg619Lys)	SYNM (R619K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599520	NM_145728.3(SYNM):c.3867G>T (p.Leu1289Phe)	SYNM (L1289F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595608	NM_145728.3(SYNM):c.622G>A (p.Glu208Lys)	SYNM, SYNM-AS1 (E208K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2589522	NM_145728.3(SYNM):c.2294C>T (p.Ser765Phe)	SYNM (S765F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2572375	GRCh37/hg19 15q26.3(chr15:99021824-101196161)x1	ADAMTS17, ASB7 +9 more	Copy number loss	See cases	GPathogenic
Select item 2556705	NM_145728.3(SYNM):c.453C>G (p.Asp151Glu)	LOC130058014, SYNM +1 more (D151E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551332	NM_145728.3(SYNM):c.4577T>A (p.Phe1526Tyr)	SYNM (F1526Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550725	NM_145728.3(SYNM):c.3898G>C (p.Gly1300Arg)	SYNM (G1300R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549287	NM_145728.3(SYNM):c.526C>G (p.Pro176Ala)	LOC130058014, SYNM +1 more (P176A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546287	NM_145728.3(SYNM):c.3226C>T (p.Pro1076Ser)	SYNM (P1076S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531251	NM_145728.3(SYNM):c.1454A>C (p.Glu485Ala)	SYNM (E485A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2473396	NM_145728.3(SYNM):c.587G>A (p.Arg196Gln)	SYNM, SYNM-AS1 (R196Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462302	NM_145728.3(SYNM):c.3114C>A (p.Ser1038Arg)	SYNM (S1038R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458887	NM_145728.3(SYNM):c.2948C>T (p.Ser983Phe)	SYNM (S983F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2458860	NM_145728.3(SYNM):c.2096C>T (p.Ser699Phe)	SYNM (S699F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2456565	NM_145728.3(SYNM):c.3680A>G (p.Gln1227Arg)	SYNM (Q1227R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456095	NM_145728.3(SYNM):c.166G>C (p.Gly56Arg)	LOC130058014, SYNM +1 more (G56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407604	NM_145728.3(SYNM):c.905C>T (p.Thr302Ile)	SYNM (T302I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2395812	NM_145728.3(SYNM):c.282G>C (p.Glu94Asp)	LOC130058014, SYNM +1 more (E94D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392540	NM_145728.3(SYNM):c.373G>C (p.Gly125Arg)	LOC130058014, SYNM +1 more (G125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392539	NM_145728.3(SYNM):c.351G>C (p.Gln117His)	LOC130058014, SYNM +1 more (Q117H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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