2770[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 473301	NC_000002.11:g.(?_220150706)_(220290732_?)dup	DES, DES-LCR +14 more	Duplication	Neuronopathy, distal hereditary motor, autosomal recessive 5	GUncertain significance
Select item 669426	NM_001927.3(DES):c.-281C>T	DES, DES-LCR	Single nucleotide variant	not provided	GLikely benign
Select item 672013	NM_001927.3(DES):c.-230C>T	DES, DES-LCR	Single nucleotide variant	not provided	GBenign
Select item 1234653	NC_000002.12:g.219418370G>T	DES, DES-LCR	Single nucleotide variant	not provided	GBenign
Select item 334449	NM_001927.4(DES):c.-74C>T	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	Desmin-related myofibrillar myopathy +3 more	GUncertain significance
Select item 895278	NM_001927.4(DES):c.-54C>T	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 516001	NM_001927.4(DES):c.-47C>T	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 201698	NM_001927.4(DES):c.-44G>A	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	Desmin-related myofibrillar myopathy +4 more	GBenign/Likely benign
Select item 670193	NM_001927.4(DES):c.-31T>A	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 201699	NM_001927.4(DES):c.-30_-18dup	DES, DES-LCR	Duplication (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1297205	NM_001927.4(DES):c.-17_-16insGCGCCCGCCAGCC	DES, DES-LCR	Insertion (5 prime UTR variant)	not provided	GBenign
Select item 1343552	NM_001927.4(DES):c.-9G>A	DES	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 290155	NM_001927.4(DES):c.-7C>G	DES	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334450	NM_001927.4(DES):c.-6G>A	DES	Single nucleotide variant (5 prime UTR variant)	Desmin-related myofibrillar myopathy +4 more	GUncertain significance
Select item 1802376	NM_001927.4(DES):c.-2C>T	DES	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 388926	NM_001927.4(DES):c.1A>G (p.Met1Val)	DES (M1V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1066470	NM_001927.4(DES):c.2T>C (p.Met1Thr)	DES (M1T)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GLikely pathogenic
Select item 66414	NM_001927.4(DES):c.5G>T (p.Ser2Ile)	DES (S2I)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2631293	NM_001927.4(DES):c.7C>G (p.Gln3Glu)	DES (Q3E)	Single nucleotide variant (missense variant)	DES-related disorder	GUncertain significance
Select item 836201	NM_001927.4(DES):c.7C>T (p.Gln3Ter)	DES (Q3*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1025467	NM_001927.4(DES):c.8A>G (p.Gln3Arg)	DES (Q3R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1768930	NM_001927.4(DES):c.9G>A (p.Gln3=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1054531	NM_001927.4(DES):c.10G>A (p.Ala4Thr)	DES (A4T)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2110362	NM_001927.4(DES):c.11C>A (p.Ala4Asp)	DES (A4D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1097857	NM_001927.4(DES):c.12C>G (p.Ala4=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 416615	NM_001927.4(DES):c.12C>A (p.Ala4=)	DES	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2497629	NM_001927.4(DES):c.15C>A (p.Tyr5Ter)	DES (Y5*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 1436615	NM_001927.4(DES):c.17C>G (p.Ser6Trp)	DES (S6W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 572025	NM_001927.4(DES):c.17C>T (p.Ser6Leu)	DES (S6L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 44255	NM_001927.4(DES):c.18G>A (p.Ser6=)	DES	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1I +7 more	GConflicting classifications of pathogenicity
Select item 594969	NM_001927.4(DES):c.20C>T (p.Ser7Phe)	DES (S7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984588	NM_001927.4(DES):c.22A>G (p.Ser8Gly)	DES (S8G)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 290562	NM_001927.4(DES):c.25C>G (p.Gln9Glu)	DES (Q9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339289	NM_001927.4(DES):c.28C>T (p.Arg10Cys)	DES (R10C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 541303	NM_001927.4(DES):c.28C>A (p.Arg10Ser)	DES (R10S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1353863	NM_001927.4(DES):c.29G>A (p.Arg10His)	DES (R10H)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1438815	NM_001927.4(DES):c.30C>T (p.Arg10=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 281517	NM_001927.4(DES):c.30C>A (p.Arg10=)	DES	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2939821	NM_001927.4(DES):c.31G>A (p.Val11Met)	DES (V11M)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2933947	NM_001927.4(DES):c.31G>T (p.Val11Leu)	DES (V11L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2945438	NM_001927.4(DES):c.32T>C (p.Val11Ala)	DES (V11A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 66412	NM_001927.4(DES):c.35C>T (p.Ser12Phe)	DES (S12F)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2167778	NM_001927.4(DES):c.36C>T (p.Ser12=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 974725	NM_001927.4(DES):c.37_578+508del	DES	Deletion (splice donor variant)	Megacolon	GUncertain significance
Select item 1002791	NM_001927.4(DES):c.37T>C (p.Ser13Pro)	DES (S13P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 541304	NM_001927.4(DES):c.38C>A (p.Ser13Tyr)	DES (S13Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44260	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES (S13F)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 1415375	NM_001927.4(DES):c.40T>C (p.Tyr14His)	DES (Y14H)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 2924047	NM_001927.4(DES):c.43C>G (p.Arg15Gly)	DES (R15G)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1461140	NM_001927.4(DES):c.43C>T (p.Arg15Cys)	DES (R15C)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1405121	NM_001927.4(DES):c.43C>A (p.Arg15Ser)	DES (R15S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 797828	NM_001927.4(DES):c.45C>T (p.Arg15=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 1355754	NM_001927.4(DES):c.46C>A (p.Arg16Ser)	DES (R16S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 66413	NM_001927.4(DES):c.46C>T (p.Arg16Cys)	DES (R16C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy	GPathogenic
Select item 2100776	NM_001927.4(DES):c.49A>C (p.Thr17Pro)	DES (T17P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1464473	NM_001927.4(DES):c.49A>T (p.Thr17Ser)	DES (T17S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1036431	NM_001927.4(DES):c.50C>A (p.Thr17Asn)	DES (T17N)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1579817	NM_001927.4(DES):c.54C>T (p.Phe18=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GLikely benign
Select item 497737	NM_001927.4(DES):c.55G>C (p.Gly19Arg)	DES (G19R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 411153	NM_001927.4(DES):c.58G>A (p.Gly20Arg)	DES (G20R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1441213	NM_001927.4(DES):c.59G>A (p.Gly20Glu)	DES (G20E)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1108746	NM_001927.4(DES):c.60G>A (p.Gly20=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2440744	NM_001927.4(DES):c.61G>A (p.Ala21Thr)	DES (A21T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 852976	NM_001927.4(DES):c.62C>A (p.Ala21Asp)	DES (A21D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 380702	NM_001927.4(DES):c.63C>T (p.Ala21=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 660762	NM_001927.4(DES):c.65C>G (p.Pro22Arg)	DES (P22R)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +2 more	GUncertain significance
Select item 859085	NM_001927.4(DES):c.66G>A (p.Pro22=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 2922949	NM_001927.4(DES):c.68G>C (p.Gly23Ala)	DES (G23A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2461390	NM_001927.4(DES):c.68G>A (p.Gly23Asp)	DES (G23D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 1060588	NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup)	DES	Insertion (inframe_insertion)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2949380	NM_001927.4(DES):c.73C>G (p.Pro25Ala)	DES (P25A)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1425184	NM_001927.4(DES):c.74_75inv (p.Pro25Leu)	DES (P25L)	Inversion (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1115281	NM_001927.4(DES):c.75A>T (p.Pro25=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 177803	NM_001927.4(DES):c.75= (p.Pro25=)	DES	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 36002	NM_001927.4(DES):c.75A>G (p.Pro25=)	DES	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 423612	NM_001927.4(DES):c.77T>A (p.Leu26His)	DES (L26H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 752561	NM_001927.4(DES):c.78C>G (p.Leu26=)	DES	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1365297	NM_001927.4(DES):c.79G>C (p.Gly27Arg)	DES (G27R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 179455	NM_001927.4(DES):c.79G>A (p.Gly27Ser)	DES (G27S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 645099	NM_001927.4(DES):c.80G>A (p.Gly27Asp)	DES (G27D)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1012337	NM_001927.4(DES):c.83C>T (p.Ser28Phe)	DES (S28F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3340466	NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)	DES	Deletion (inframe_indel)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2159462	NM_001927.4(DES):c.86C>G (p.Pro29Arg)	DES (P29R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 851957	NM_001927.4(DES):c.86C>T (p.Pro29Leu)	DES (P29L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1612513	NM_001927.4(DES):c.87G>T (p.Pro29=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 2079356	NM_001927.4(DES):c.88C>T (p.Leu30=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy	GLikely benign
Select item 500669	NM_001927.4(DES):c.91A>T (p.Ser31Cys)	DES (S31C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 582559	NM_001927.4(DES):c.93T>G (p.Ser31Arg)	DES (S31R)	Single nucleotide variant (missense variant)	Neurogenic scapuloperoneal syndrome, Kaeser type +4 more	GUncertain significance
Select item 177804	NM_001927.4(DES):c.93= (p.Ser31=)	DES	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 36003	NM_001927.4(DES):c.93T>C (p.Ser31=)	DES	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign
Select item 284762	NM_001927.4(DES):c.97C>T (p.Pro33Ser)	DES (P33S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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