9499[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 903840	NM_006790.3(MYOT):c.-286C>G	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 3	GUncertain significance
Select item 351018	NM_006790.3(MYOT):c.-251A>G	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 351019	NM_006790.3(MYOT):c.-233C>A	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +2 more	GBenign/Likely benign
Select item 1196566	NM_006790.3(MYOT):c.-211-297dup	MYOT, PKD2L2-DT	Duplication (intron variant)	not provided	GLikely benign
Select item 1259097	NM_006790.3(MYOT):c.-211-297del	MYOT, PKD2L2-DT	Deletion (intron variant)	not provided	GBenign
Select item 1248942	NM_006790.3(MYOT):c.-211-300A>G	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178361	NM_006790.3(MYOT):c.-211-174T>A	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268891	NM_006790.3(MYOT):c.-211-152AC[22]	MYOT, PKD2L2-DT	Microsatellite (intron variant)	not provided	GBenign
Select item 1266810	NM_006790.3(MYOT):c.-211-152AC[23]	MYOT, PKD2L2-DT	Microsatellite (intron variant)	not provided	GBenign
Select item 1261559	NM_006790.3(MYOT):c.-211-152AC[20]	MYOT, PKD2L2-DT	Microsatellite (intron variant)	not provided	GBenign
Select item 1225913	NM_006790.3(MYOT):c.-211-152AC[21]	MYOT, PKD2L2-DT	Microsatellite (intron variant)	not provided	GBenign
Select item 1212515	NM_006790.3(MYOT):c.-211-152AC[24]	MYOT, PKD2L2-DT	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1295552	NM_006790.3(MYOT):c.-211-152AC[16]	MYOT, PKD2L2-DT	Microsatellite (intron variant)	not provided	GBenign
Select item 351020	NM_006790.3(MYOT):c.-165C>T	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +2 more	GUncertain significance
Select item 351021	NM_006790.3(MYOT):c.-89del	MYOT, PKD2L2-DT	Deletion (5 prime UTR variant +1 more)	Myofibrillar Myopathy, Dominant +2 more	GUncertain significance
Select item 580989	NM_006790.3(MYOT):c.1A>T (p.Met1Leu)	MYOT, PKD2L2-DT (M1L)	Single nucleotide variant (missense variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2918818	NM_006790.3(MYOT):c.12C>T (p.Tyr4=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 3011844	NM_006790.3(MYOT):c.13G>A (p.Glu5Lys)	MYOT, PKD2L2-DT (E5K)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2732133	NM_006790.3(MYOT):c.16C>G (p.Arg6Gly)	MYOT, PKD2L2-DT (R6G)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2059499	NM_006790.3(MYOT):c.16C>T (p.Arg6Cys)	MYOT, PKD2L2-DT (R6C)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 30407	NM_006790.3(MYOT):c.17G>A (p.Arg6His)	PKD2L2-DT, MYOT (R6H)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2734790	NM_006790.3(MYOT):c.32T>C (p.Ile11Thr)	MYOT, PKD2L2-DT (I11T)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 290189	NM_006790.3(MYOT):c.34C>G (p.Gln12Glu)	MYOT, PKD2L2-DT (Q12E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1658019	NM_006790.3(MYOT):c.48A>C (p.Pro16=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2094657	NM_006790.3(MYOT):c.49T>A (p.Cys17Ser)	MYOT, PKD2L2-DT (C17S)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 464374	NM_006790.3(MYOT):c.49T>C (p.Cys17Arg)	MYOT, PKD2L2-DT (C17R)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 1391939	NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr)	MYOT, PKD2L2-DT (C17Y)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2103106	NM_006790.3(MYOT):c.53G>T (p.Gly18Val)	MYOT, PKD2L2-DT (G18V)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2914572	NM_006790.3(MYOT):c.61T>A (p.Leu21Met)	MYOT, PKD2L2-DT (L21M)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 283067	NM_006790.3(MYOT):c.61T>C (p.Leu21=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1025934	NM_006790.3(MYOT):c.67C>A (p.Pro23Thr)	PKD2L2-DT, MYOT (P23T)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 596221	NM_006790.3(MYOT):c.67C>T (p.Pro23Ser)	MYOT, PKD2L2-DT (P23S)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3 +1 more	GUncertain significance
Select item 2323828	NM_006790.3(MYOT):c.76C>T (p.Pro26Ser)	MYOT, PKD2L2-DT (P26S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 657689	NM_006790.3(MYOT):c.83C>T (p.Thr28Ile)	MYOT, PKD2L2-DT (T28I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 657688	NM_006790.3(MYOT):c.86C>T (p.Ser29Phe)	MYOT, PKD2L2-DT (S29F)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 289900	NM_006790.3(MYOT):c.96T>C (p.Ser32=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3 +1 more	GConflicting classifications of pathogenicity
Select item 464376	NM_006790.3(MYOT):c.98G>T (p.Ser33Ile)	MYOT, PKD2L2-DT (S33I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 95436	NM_006790.3(MYOT):c.107_110del (p.Lys36fs)	MYOT, PKD2L2-DT (K36fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 5839	NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)	MYOT, PKD2L2-DT (S39F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2153910	NM_006790.3(MYOT):c.118A>G (p.Ile40Val)	MYOT, PKD2L2-DT (I40V)	Single nucleotide variant (intron variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 95438	NM_006790.3(MYOT):c.120T>A (p.Ile40=)	PKD2L2-DT, MYOT	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 129682	NM_006790.3(MYOT):c.122T>C (p.Ile41Thr)	MYOT, PKD2L2-DT (I41T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 284500	NM_006790.3(MYOT):c.129G>C (p.Gln43His)	MYOT, PKD2L2-DT (Q43H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1988956	NM_006790.3(MYOT):c.134G>A (p.Arg45His)	MYOT, PKD2L2-DT (R45H)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 1391952	NM_006790.3(MYOT):c.134G>T (p.Arg45Leu)	MYOT, PKD2L2-DT (R45L)	Single nucleotide variant (intron variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 1941101	NM_006790.3(MYOT):c.137A>G (p.Gln46Arg)	MYOT, PKD2L2-DT (Q46R)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 1057253	NM_006790.3(MYOT):c.137A>T (p.Gln46Leu)	MYOT, PKD2L2-DT (Q46L)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2994371	NM_006790.3(MYOT):c.143C>G (p.Thr48Arg)	MYOT, PKD2L2-DT (T48R)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 906249	NM_006790.3(MYOT):c.143C>T (p.Thr48Ile)	MYOT, PKD2L2-DT (T48I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 571511	NM_006790.3(MYOT):c.145G>C (p.Glu49Gln)	MYOT, PKD2L2-DT (E49Q)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 852985	NM_006790.3(MYOT):c.147G>C (p.Glu49Asp)	MYOT, PKD2L2-DT (E49D)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 129683	NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)	MYOT, PKD2L2-DT	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3 +2 more	GBenign/Likely benign
Select item 1056349	NM_006790.3(MYOT):c.151A>G (p.Arg51Gly)	PKD2L2-DT, MYOT (R51G)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2092959	NM_006790.3(MYOT):c.156T>C (p.Phe52=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 1712798	NM_006790.3(MYOT):c.162CTC[1] (p.Ser56del)	PKD2L2-DT, MYOT (S56del)	Microsatellite (inframe_indel +2 more)	not provided	GUncertain significance
Select item 5835	NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)	MYOT, PKD2L2-DT (S55F)	Single nucleotide variant (missense variant +1 more)	Progressive proximal muscle weakness +11 more	GPathogenic/Likely pathogenic
Select item 2627978	NM_006790.3(MYOT):c.167C>T (p.Ser56Leu)	MYOT, PKD2L2-DT (S56L)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2433985	NM_006790.3(MYOT):c.170del (p.Thr57fs)	MYOT, PKD2L2-DT (T57fs)	Deletion (frameshift variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 5834	NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)	MYOT, PKD2L2-DT (T57I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3 +1 more	GPathogenic
Select item 2891816	NM_006790.3(MYOT):c.176G>A (p.Ser59Asn)	MYOT, PKD2L2-DT (S59N)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 5837	NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)	MYOT, PKD2L2-DT (S60F)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3 +2 more	GPathogenic/Likely pathogenic
Select item 5836	NM_006790.3(MYOT):c.179C>G (p.Ser60Cys)	MYOT, PKD2L2-DT (S60C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 664775	NM_006790.3(MYOT):c.182A>C (p.His61Pro)	MYOT, PKD2L2-DT (H61P)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2797504	NM_006790.3(MYOT):c.188C>T (p.Thr63Ile)	MYOT, PKD2L2-DT (T63I)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2869487	NM_006790.3(MYOT):c.189C>G (p.Thr63=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 906250	NM_006790.3(MYOT):c.191T>A (p.Met64Lys)	MYOT, PKD2L2-DT (M64K)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 2904515	NM_006790.3(MYOT):c.198C>A (p.Ser66=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2898275	NM_006790.3(MYOT):c.207C>T (p.Phe69=)	MYOT, PKD2L2-DT	Single nucleotide variant (synonymous variant +1 more)	Myofibrillar myopathy 3	GLikely benign
Select item 464369	NM_006790.3(MYOT):c.220C>A (p.Gln74Lys)	MYOT, PKD2L2-DT (Q74K)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 167317	NM_006790.3(MYOT):c.220= (p.Gln74=)	MYOT, PKD2L2-DT	Single nucleotide variant (no sequence alteration +1 more)	not specified +2 more	GBenign
Select item 2433994	NM_006790.3(MYOT):c.225G>C (p.Gln75His)	MYOT, PKD2L2-DT (Q75H)	Single nucleotide variant (missense variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 950553	NM_006790.3(MYOT):c.232G>A (p.Gly78Ser)	MYOT, PKD2L2-DT (G78S)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3 +1 more	GUncertain significance
Select item 1974941	NM_006790.3(MYOT):c.239A>G (p.Asn80Ser)	MYOT, PKD2L2-DT (N80S)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 281188	NM_006790.3(MYOT):c.240C>T (p.Asn80=)	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant +2 more)	Myofibrillar myopathy 3 +2 more	GBenign
Select item 1584358	NM_006790.3(MYOT):c.249A>G (p.Gln83=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GLikely benign
Select item 1026703	NM_006790.3(MYOT):c.252G>C (p.Arg84Ser)	MYOT, PKD2L2-DT (R84S)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 291207	NM_006790.3(MYOT):c.252G>A (p.Arg84=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3 +1 more	GConflicting classifications of pathogenicity
Select item 3298106	NM_006790.3(MYOT):c.254T>C (p.Val85Ala)	MYOT, PKD2L2-DT (V85A)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 596617	NM_006790.3(MYOT):c.255T>C (p.Val85=)	MYOT, PKD2L2-DT	Single nucleotide variant (intron variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 499699	NM_006790.3(MYOT):c.257C>A (p.Thr86Lys)	MYOT, PKD2L2-DT (T86K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2991665	NM_006790.3(MYOT):c.279A>G (p.Pro93=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GLikely benign
Select item 2433992	NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)	MYOT, PKD2L2-DT (A94T)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 290615	NM_006790.3(MYOT):c.282C>T (p.Ala94=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 5838	NM_006790.3(MYOT):c.284G>T (p.Ser95Ile)	MYOT, PKD2L2-DT (S95I)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GPathogenic
Select item 1163258	NM_006790.3(MYOT):c.298A>G (p.Ile100Val)	MYOT, PKD2L2-DT (I100V)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3 +1 more	GUncertain significance
Select item 224697	NM_006790.3(MYOT):c.314C>T (p.Pro105Leu)	PKD2L2-DT, MYOT (P105L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2102639	NM_006790.3(MYOT):c.318T>A (p.Asp106Glu)	MYOT, PKD2L2-DT (D106E)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GUncertain significance
Select item 1620918	NM_006790.3(MYOT):c.318T>C (p.Asp106=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3	GLikely benign
Select item 281070	NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)	PKD2L2-DT, MYOT (N108T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 351022	NM_006790.3(MYOT):c.335T>A (p.Ile112Asn)	MYOT, PKD2L2-DT (I112N)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar Myopathy, Dominant +2 more	GUncertain significance
Select item 282122	NM_006790.3(MYOT):c.342C>T (p.Ser114=)	MYOT, PKD2L2-DT	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar myopathy 3 +1 more	GConflicting classifications of pathogenicity
Select item 351023	NM_006790.3(MYOT):c.343G>T (p.Ala115Ser)	MYOT, PKD2L2-DT (A115S)	Single nucleotide variant (5 prime UTR variant +2 more)	Myofibrillar Myopathy, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 95439	NM_006790.3(MYOT):c.343G>A (p.Ala115Thr)	PKD2L2-DT, MYOT	Single nucleotide variant (5 prime UTR variant +2 more)	MYOT-related disorder +3 more	GBenign/Likely benign
Select item 903901	NM_006790.3(MYOT):c.348G>A (p.Met116Ile)	MYOT, PKD2L2-DT (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	Myofibrillar myopathy 3	GUncertain significance

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