51778[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 149894	GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1	C4orf3, FABP2 +48 more	Copy number loss	See cases	GPathogenic
Select item 150371	GRCh38/hg38 4q26(chr4:118858868-119856165)x3	C4orf3, FABP2 +22 more	Copy number gain	See cases	GLikely benign
Select item 31785	NM_016599.5(MYOZ2):c.-87A>G	MYOZ2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 138411	NM_016599.5(MYOZ2):c.-42C>T	MYOZ2	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 389663	NM_016599.5(MYOZ2):c.-41G>A	MYOZ2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 347405	NM_016599.5(MYOZ2):c.-15+11dup	MYOZ2	Duplication (intron variant)	Hypertrophic cardiomyopathy 16 +2 more	GBenign/Likely benign
Select item 1258010	NM_016599.5(MYOZ2):c.-15+28C>T	MYOZ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318202	NM_016599.5(MYOZ2):c.-14-258C>A	MYOZ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675767	NM_016599.5(MYOZ2):c.-14-112G>A	MYOZ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507894	NM_016599.5(MYOZ2):c.-14-20T>C	MYOZ2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 583900	NC_000004.11:g.(?_120057661)_(120107375_?)dup	MYOZ2	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 417577	NC_000004.11:g.(?_120057667)_(120108944_?)dup	MYOZ2	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 647463	NC_000004.11:g.(?_120057671)_(120107365_?)dup	MYOZ2	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 45778	NM_016599.5(MYOZ2):c.-3dup	MYOZ2	Duplication	Hypertrophic cardiomyopathy 16 +4 more	GBenign
Select item 504932	NM_016599.5(MYOZ2):c.-3A>G	MYOZ2	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1465143	NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)	MYOZ2 (M1L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 179840	NM_016599.4(MYOZ2):c.(?_1)_(76_?)dup (p.(?))	MYOZ2	Duplication	not specified	GUncertain significance
Select item 1421517	NM_016599.5(MYOZ2):c.11A>T (p.His4Leu)	MYOZ2 (H4L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 45779	NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser)	MYOZ2 (T6S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1041934	NM_016599.5(MYOZ2):c.19A>G (p.Met7Val)	MYOZ2 (M7V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +2 more	GUncertain significance
Select item 1785894	NM_016599.5(MYOZ2):c.20T>C (p.Met7Thr)	MYOZ2 (M7T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2190330	NM_016599.5(MYOZ2):c.27G>C (p.Lys9Asn)	MYOZ2 (K9N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 45781	NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)	MYOZ2 (Q10R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +4 more	GUncertain significance
Select item 45780	NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)	MYOZ2 (Q10P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 1493383	NM_016599.5(MYOZ2):c.36A>C (p.Lys12Asn)	MYOZ2 (K12N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 227711	NM_016599.5(MYOZ2):c.39G>A (p.Gln13=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1413508	NM_016599.5(MYOZ2):c.47C>T (p.Thr16Ile)	MYOZ2 (T16I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2021344	NM_016599.5(MYOZ2):c.55dup (p.Met19fs)	MYOZ2 (M19fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1749754	NM_016599.5(MYOZ2):c.57G>A (p.Met19Ile)	MYOZ2 (M19I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 518777	NM_016599.5(MYOZ2):c.75T>C (p.Asn25=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1580165	NM_016599.5(MYOZ2):c.76+8T>C	MYOZ2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 45788	NM_016599.5(MYOZ2):c.76+10A>G	MYOZ2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 138409	NM_016599.5(MYOZ2):c.76+19C>T	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +3 more	GBenign
Select item 138410	NM_016599.5(MYOZ2):c.76+20G>A	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 1228865	NM_016599.5(MYOZ2):c.76+96A>G	MYOZ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676022	NM_016599.5(MYOZ2):c.76+178C>G	MYOZ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672825	NM_016599.5(MYOZ2):c.77-101T>C	MYOZ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2068947	NM_016599.5(MYOZ2):c.77-18A>G	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 45789	NM_016599.5(MYOZ2):c.77-14A>G	MYOZ2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1664366	NM_016599.5(MYOZ2):c.77-5dup	MYOZ2	Duplication (intron variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 1638061	NM_016599.5(MYOZ2):c.77-9G>A	MYOZ2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3402000	NM_016599.5(MYOZ2):c.81T>A (p.Val27=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3703317	NM_016599.5(MYOZ2):c.83A>G (p.Asp28Gly)	MYOZ2 (D28G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 45790	NM_016599.5(MYOZ2):c.84T>C (p.Asp28=)	MYOZ2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2824917	NM_016599.5(MYOZ2):c.85G>A (p.Gly29Ser)	MYOZ2 (G29S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1765030	NM_016599.5(MYOZ2):c.88A>G (p.Met30Val)	MYOZ2 (M30V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3401994	NM_016599.5(MYOZ2):c.99C>A (p.Gly33=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1329303	NM_016599.5(MYOZ2):c.106G>C (p.Val36Leu)	MYOZ2 (V36L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1440135	NM_016599.5(MYOZ2):c.114C>G (p.Ile38Met)	MYOZ2 (I38M)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1746896	NM_016599.5(MYOZ2):c.119G>A (p.Arg40Lys)	MYOZ2 (R40K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3668660	NM_016599.5(MYOZ2):c.120A>G (p.Arg40=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 721690	NM_016599.5(MYOZ2):c.123C>T (p.Asp41=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2449415	NM_016599.5(MYOZ2):c.124A>T (p.Ile42Phe)	MYOZ2 (I42F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3655866	NM_016599.5(MYOZ2):c.126C>T (p.Ile42=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3622902	NM_016599.5(MYOZ2):c.128T>C (p.Met43Thr)	MYOZ2 (M43T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1769326	NM_016599.5(MYOZ2):c.129G>C (p.Met43Ile)	MYOZ2 (M43I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3226913	NM_016599.5(MYOZ2):c.132G>T (p.Leu44Phe)	MYOZ2 (L44F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770798	NM_016599.5(MYOZ2):c.135del (p.Glu46fs)	MYOZ2 (E46fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1422618	NM_016599.5(MYOZ2):c.136G>T (p.Glu46Ter)	MYOZ2 (E46*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2449419	NM_016599.5(MYOZ2):c.141A>T (p.Leu47Phe)	MYOZ2 (L47F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 30508	NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)	MYOZ2 (S48P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16	GLikely pathogenic
Select item 426256	NM_016599.5(MYOZ2):c.146A>G (p.His49Arg)	MYOZ2 (H49R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1284789	NM_016599.5(MYOZ2):c.148C>T (p.Leu50Phe)	MYOZ2 (L50F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1566056	NM_016599.5(MYOZ2):c.150C>T (p.Leu50=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 859838	NM_016599.5(MYOZ2):c.156C>A (p.Asn52Lys)	MYOZ2 (N52K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 386842	NM_016599.5(MYOZ2):c.157C>G (p.Arg53Gly)	MYOZ2 (R53G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 454460	NM_016599.5(MYOZ2):c.158G>A (p.Arg53His)	MYOZ2 (R53H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1112245	NM_016599.5(MYOZ2):c.159T>C (p.Arg53=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3402002	NM_016599.5(MYOZ2):c.168G>A (p.Arg56=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3298117	NM_016599.5(MYOZ2):c.168G>C (p.Arg56Ser)	MYOZ2 (R56S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3728792	NM_016599.5(MYOZ2):c.171A>C (p.Leu57=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3402001	NM_016599.5(MYOZ2):c.171A>G (p.Leu57=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1484537	NM_016599.5(MYOZ2):c.177G>C (p.Lys59Asn)	MYOZ2 (K59N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1439509	NM_016599.5(MYOZ2):c.178A>T (p.Met60Leu)	MYOZ2 (M60L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1404056	NM_016599.5(MYOZ2):c.180G>A (p.Met60Ile)	MYOZ2 (M60I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 454461	NM_016599.5(MYOZ2):c.181C>G (p.Arg61Gly)	MYOZ2 (R61G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 213656	NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys)	MYOZ2 (R61C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 953637	NM_016599.5(MYOZ2):c.182G>A (p.Arg61His)	MYOZ2 (R61H)	Single nucleotide variant (missense variant)	MYOZ2-related disorder +2 more	GUncertain significance
Select item 3402003	NM_016599.5(MYOZ2):c.183T>A (p.Arg61=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 180066	NM_016599.5(MYOZ2):c.190A>C (p.Arg64=)	MYOZ2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 505044	NM_016599.5(MYOZ2):c.191G>A (p.Arg64Lys)	MYOZ2 (R64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449418	NM_016599.5(MYOZ2):c.193T>G (p.Ser65Ala)	MYOZ2 (S65A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783925	NM_016599.5(MYOZ2):c.198C>A (p.Asp66Glu)	MYOZ2 (D66E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1520010	NM_016599.5(MYOZ2):c.200A>G (p.Lys67Arg)	MYOZ2 (K67R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3226914	NM_016599.5(MYOZ2):c.204C>T (p.Tyr68=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1587127	NM_016599.5(MYOZ2):c.207A>C (p.Thr69=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1787254	NM_016599.5(MYOZ2):c.217T>A (p.Phe73Ile)	MYOZ2 (F73I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 213652	NM_016599.5(MYOZ2):c.220C>T (p.Gln74Ter)	MYOZ2 (Q74*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1787895	NM_016599.5(MYOZ2):c.221A>G (p.Gln74Arg)	MYOZ2 (Q74R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1788089	NM_016599.5(MYOZ2):c.222G>T (p.Gln74His)	MYOZ2 (Q74H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1414355	NM_016599.5(MYOZ2):c.227A>G (p.Gln76Arg)	MYOZ2 (Q76R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 383430	NM_016599.5(MYOZ2):c.228A>G (p.Gln76=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 31788	NM_016599.5(MYOZ2):c.237A>G (p.Ala79=)	MYOZ2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 1790536	NM_016599.5(MYOZ2):c.238C>A (p.Gln80Lys)	MYOZ2 (Q80K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 963890	NM_016599.5(MYOZ2):c.242T>C (p.Ile81Thr)	MYOZ2 (I81T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 227709	NM_016599.5(MYOZ2):c.245A>C (p.Asn82Thr)	MYOZ2 (N82T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GBenign/Likely benign

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