6649[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 1234364	NM_198271.5(LMOD3):c.*281C>A	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1188646	NM_198271.5(LMOD3):c.*255C>T	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1222613	NM_198271.5(LMOD3):c.*152A>C	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1278003	NM_198271.5(LMOD3):c.*96C>T	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1180899	NM_198271.5(LMOD3):c.*15A>G	LMOD3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 656094	NM_198271.5(LMOD3):c.1681dup (p.Ter561LeuextTer?)	LMOD3	Duplication (frameshift variant +1 more)	Nemaline myopathy 10	GUncertain significance
Select item 1371723	NM_198271.5(LMOD3):c.1681T>C (p.Ter561Gln)	LMOD3	Single nucleotide variant (stop lost)	Nemaline myopathy 10	GUncertain significance
Select item 2064609	NM_198271.5(LMOD3):c.1680G>T (p.Ala560=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1633863	NM_198271.5(LMOD3):c.1680G>A (p.Ala560=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 475312	NM_198271.5(LMOD3):c.1679C>T (p.Ala560Val)	LMOD3 (A560V)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign/Likely benign
Select item 940325	NM_198271.5(LMOD3):c.1676_1677del (p.Leu559fs)	LMOD3 (L559fs)	Deletion (frameshift variant)	Nemaline myopathy 10	GUncertain significance
Select item 1406409	NM_198271.5(LMOD3):c.1673A>C (p.Glu558Ala)	LMOD3 (E558A)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1023469	NM_198271.5(LMOD3):c.1670A>C (p.Lys557Thr)	LMOD3 (K557T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2010520	NM_198271.5(LMOD3):c.1667C>G (p.Pro556Arg)	LMOD3 (P556R)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 218866	NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln)	LMOD3 (P556Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 542084	NM_198271.5(LMOD3):c.1664T>A (p.Leu555Gln)	LMOD3 (L555Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 945485	NM_198271.5(LMOD3):c.1661A>G (p.Gln554Arg)	LMOD3 (Q554R)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 475311	NM_198271.5(LMOD3):c.1659G>T (p.Val553=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 856212	NM_198271.5(LMOD3):c.1657G>A (p.Val553Met)	LMOD3 (V553M)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 737424	NM_198271.5(LMOD3):c.1657-5C>T	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569757	NM_198271.5(LMOD3):c.1657-14T>C	LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GBenign
Select item 1242359	NM_198271.5(LMOD3):c.1657-26C>G	LMOD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190601	NM_198271.5(LMOD3):c.1657-129A>G	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208044	NM_198271.5(LMOD3):c.1657-161T>C	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212864	NM_198271.5(LMOD3):c.1657-181T>C	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236245	NM_198271.5(LMOD3):c.1657-231del	LMOD3	Deletion (intron variant)	not provided	GBenign
Select item 1202837	NM_198271.5(LMOD3):c.1657-253C>T	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219669	NM_198271.5(LMOD3):c.1656+145A>G	LMOD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094677	NM_198271.5(LMOD3):c.1656+12G>T	LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GUncertain significance
Select item 2807701	NM_198271.5(LMOD3):c.1656+9A>G	LMOD3	Single nucleotide variant (intron variant)	Nemaline myopathy 10	GLikely benign
Select item 1472468	NM_198271.5(LMOD3):c.1656+1G>C	LMOD3	Single nucleotide variant (splice donor variant)	Nemaline myopathy 10	GUncertain significance
Select item 475310	NM_198271.5(LMOD3):c.1655C>A (p.Pro552His)	LMOD3 (P552H)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign
Select item 374498	NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe)	LMOD3 (L550F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 542081	NM_198271.5(LMOD3):c.1645T>C (p.Tyr549His)	LMOD3 (Y549H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1481057	NM_198271.5(LMOD3):c.1642G>A (p.Ala548Thr)	LMOD3 (A548T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2868034	NM_198271.5(LMOD3):c.1641C>A (p.Val547=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 705362	NM_198271.5(LMOD3):c.1641C>G (p.Val547=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 3364341	NM_198271.5(LMOD3):c.1637G>T (p.Ser546Ile)	LMOD3 (S546I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809504	NM_198271.5(LMOD3):c.1637G>A (p.Ser546Asn)	LMOD3 (S546N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653960	NM_198271.5(LMOD3):c.1632C>T (p.His544=)	LMOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472817	NM_198271.5(LMOD3):c.1628G>A (p.Arg543His)	LMOD3 (R543H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 692211	NM_198271.5(LMOD3):c.1628G>T (p.Arg543Leu)	LMOD3 (R543L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GPathogenic
Select item 2201328	NM_198271.5(LMOD3):c.1621G>A (p.Asp541Asn)	LMOD3 (D541N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 703041	NM_198271.5(LMOD3):c.1617A>G (p.Leu539=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GBenign
Select item 2093747	NM_198271.5(LMOD3):c.1607A>T (p.Asp536Val)	LMOD3 (D536V)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 852051	NM_198271.5(LMOD3):c.1606G>C (p.Asp536His)	LMOD3 (D536H)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 846792	NM_198271.5(LMOD3):c.1600C>G (p.Pro534Ala)	LMOD3 (P534A)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1022253	NM_198271.5(LMOD3):c.1598C>T (p.Thr533Ile)	LMOD3 (T533I)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1485192	NM_198271.5(LMOD3):c.1593A>C (p.Glu531Asp)	LMOD3 (E531D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 542093	NM_198271.5(LMOD3):c.1585T>C (p.Leu529=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 763907	NM_198271.5(LMOD3):c.1584A>G (p.Pro528=)	LMOD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2727650	NM_198271.5(LMOD3):c.1581C>T (p.Pro527=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 945267	NM_198271.5(LMOD3):c.1579C>A (p.Pro527Thr)	LMOD3 (P527T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 772523	NM_198271.5(LMOD3):c.1579C>T (p.Pro527Ser)	LMOD3 (P527S)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GLikely benign
Select item 573278	NM_198271.5(LMOD3):c.1576C>T (p.Pro526Ser)	LMOD3 (P526S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3032110	NM_198271.5(LMOD3):c.1575G>A (p.Arg525=)	LMOD3	Single nucleotide variant (synonymous variant)	LMOD3-related disorder	GLikely benign
Select item 2139400	NM_198271.5(LMOD3):c.1566G>A (p.Pro522=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 3290996	NM_198271.5(LMOD3):c.1565C>T (p.Pro522Leu)	LMOD3 (P522L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 942119	NM_198271.5(LMOD3):c.1558C>G (p.Pro520Ala)	LMOD3 (P520A)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1974665	NM_198271.5(LMOD3):c.1551G>T (p.Thr517=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 666161	NM_198271.5(LMOD3):c.1550C>T (p.Thr517Met)	LMOD3 (T517M)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 542083	NM_198271.5(LMOD3):c.1544T>A (p.Ile515Asn)	LMOD3 (I515N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1470611	NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile)	LMOD3 (V514I)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 2805996	NM_198271.5(LMOD3):c.1533C>T (p.Leu511=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 3119400	NM_198271.5(LMOD3):c.1532T>A (p.Leu511His)	LMOD3 (L511H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195594	NM_198271.5(LMOD3):c.1529A>G (p.Asn510Ser)	LMOD3 (N510S)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 475309	NM_198271.5(LMOD3):c.1529A>C (p.Asn510Thr)	LMOD3 (N510T)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1640578	NM_198271.5(LMOD3):c.1527C>T (p.Thr509=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 475308	NM_198271.5(LMOD3):c.1519G>A (p.Glu507Lys)	LMOD3 (E507K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 542088	NM_198271.5(LMOD3):c.1518C>A (p.Pro506=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 574953	NM_198271.5(LMOD3):c.1507A>G (p.Arg503Gly)	LMOD3 (R503G)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1002441	NM_198271.5(LMOD3):c.1505C>G (p.Ala502Gly)	LMOD3 (A502G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1077714	NM_198271.5(LMOD3):c.1500G>A (p.Pro500=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 3290997	NM_198271.5(LMOD3):c.1499C>T (p.Pro500Leu)	LMOD3 (P500L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 475307	NM_198271.5(LMOD3):c.1493G>A (p.Arg498Gln)	LMOD3 (R498Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GBenign/Likely benign
Select item 1981994	NM_198271.5(LMOD3):c.1492C>T (p.Arg498Trp)	LMOD3 (R498W)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 710502	NM_198271.5(LMOD3):c.1492C>A (p.Arg498=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1157845	NM_198271.5(LMOD3):c.1488A>G (p.Lys496=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1398095	NM_198271.5(LMOD3):c.1484G>A (p.Arg495His)	LMOD3 (R495H)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 654151	NM_198271.5(LMOD3):c.1484G>T (p.Arg495Leu)	LMOD3 (R495L)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1371742	NM_198271.5(LMOD3):c.1483C>T (p.Arg495Cys)	LMOD3 (R495C)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1040790	NM_198271.5(LMOD3):c.1483C>A (p.Arg495Ser)	LMOD3 (R495S)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1479124	NM_198271.5(LMOD3):c.1473_1475del (p.Arg492del)	LMOD3 (R492del)	Deletion (inframe_deletion)	Nemaline myopathy 10	GUncertain significance
Select item 1395938	NM_198271.5(LMOD3):c.1472dup (p.Arg492fs)	LMOD3 (R492fs)	Duplication (frameshift variant)	Nemaline myopathy 10	GPathogenic
Select item 654776	NM_198271.5(LMOD3):c.1468C>A (p.Leu490Met)	LMOD3 (L490M)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1131832	NM_198271.5(LMOD3):c.1464G>A (p.Val488=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 475306	NM_198271.5(LMOD3):c.1460T>C (p.Val487Ala)	LMOD3 (V487A)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GUncertain significance
Select item 1436925	NM_198271.5(LMOD3):c.1456C>G (p.Arg486Gly)	LMOD3 (R486G)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 1051306	NM_198271.5(LMOD3):c.1456C>T (p.Arg486Trp)	LMOD3 (R486W)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 760362	NM_198271.5(LMOD3):c.1455C>T (p.Phe485=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1672937	NM_198271.5(LMOD3):c.1449C>T (p.Asp483=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 1477870	NM_198271.5(LMOD3):c.1449C>A (p.Asp483Glu)	LMOD3 (D483E)	Single nucleotide variant (missense variant)	Nemaline myopathy 10	GUncertain significance
Select item 542082	NM_198271.5(LMOD3):c.1441G>A (p.Asp481Asn)	LMOD3 (D481N)	Single nucleotide variant (missense variant)	Nemaline myopathy 10 +1 more	GUncertain significance
Select item 2361263	NM_198271.5(LMOD3):c.1435A>G (p.Arg479Gly)	LMOD3 (R479G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 475305	NM_198271.5(LMOD3):c.1428G>A (p.Pro476=)	LMOD3	Single nucleotide variant (synonymous variant)	Nemaline myopathy 10	GLikely benign
Select item 858092	NM_198271.5(LMOD3):c.1427C>T (p.Pro476Leu)	LMOD3 (P476L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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