Related gene-specific medical variations for Gene (Select 1674) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362673	NM_001927.4(DES):c.152C>A (p.Ser51Tyr)	DES (S51Y)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3247400	NC_000002.11:g.(?_220286089)_(220292091_?)del	DES	Deletion	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3247398	NC_000002.11:g.(?_220283513)_(220299541_?)del	DES	Deletion	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3069155	NM_001927.4(DES):c.367A>C (p.Ile123Leu)	DES (I123L)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 3065242	NM_001927.4(DES):c.1213T>C (p.Tyr405His)	DES (Y261H +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 2688924	NM_001927.4(DES):c.1245-3T>C	DES	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2440746	NM_001927.4(DES):c.1342A>G (p.Ile448Val)	DES (I304V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440742	NM_001927.4(DES):c.537_542dup (p.Arg180_Asp181insGluArg)	DES	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 2440741	NM_001927.4(DES):c.956A>C (p.Gln319Pro)	DES (Q229P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440740	NM_001927.4(DES):c.380G>A (p.Arg127His)	DES (R127H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439698	NM_001927.4(DES):c.604del (p.Glu202fs)	DES (E202fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2439694	NM_001927.4(DES):c.735+2T>C	DES	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1676333	NM_001927.4(DES):c.141C>A (p.Ser47Arg)	DES (S47R)	Single nucleotide variant	not provided	GUncertain significance
Select item 1297205	NM_001927.4(DES):c.-17_-16insGCGCCCGCCAGCC	DES, DES-LCR	Insertion (5 prime UTR variant)	not provided	GBenign
Select item 974725	NM_001927.4(DES):c.37_578+508del	DES	Deletion (splice donor variant)	Megacolon	GUncertain significance
Select item 931514	NM_001927.4(DES):c.428T>C (p.Leu143Pro)	DES (L143P)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 895278	NM_001927.4(DES):c.-54C>T	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	Desmin-related myofibrillar myopathy +2 more	GUncertain significance
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 636840	NM_001927.4(DES):c.332A>G (p.Glu111Gly)	DES (E111G)	Single nucleotide variant (missense variant)	not provided	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 488165	NM_001927.4(DES):c.541G>A (p.Asp181Asn)	DES (D181N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +1 more	GUncertain significance
Select item 334449	NM_001927.4(DES):c.-74C>T	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +3 more	GUncertain significance
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 201698	NM_001927.4(DES):c.-44G>A	DES, DES-LCR	Single nucleotide variant (5 prime UTR variant)	Myofibrillar Myopathy, Dominant +4 more	GBenign/Likely benign
Select item 66421	NM_001927.4(DES):c.821T>C (p.Leu274Pro)	DES (L274P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66418	NM_001927.4(DES):c.735+2_735+11del	DES	Deletion (splice donor variant)	not provided	Gnot provided
Select item 66417	NM_001927.4(DES):c.723dup (p.Val242fs)	DES (V242fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 66410	NM_001927.4(DES):c.340_342del (p.Glu114del)	DES (E114del)	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 66409	NM_001927.4(DES):c.338_339del (p.Gln113fs)	DES (Q113fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 66407	NM_001927.4(DES):c.1405G>A (p.Val469Met)	DES (V469M)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66406	NM_001927.4(DES):c.137C>T (p.Ser46Phe)	DES (S46F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66404	NM_001927.4(DES):c.1379G>T (p.Ser460Ile)	DES (S460I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66403	NM_001927.4(DES):c.1370A>T (p.Glu457Val)	DES (E457V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66394	NM_001927.4(DES):c.1126C>T (p.His376Tyr)	DES (H376Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 66392	NM_001927.4(DES):c.1099A>T (p.Ile367Phe)	DES (I367F)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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Links from Gene

Items: 35