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

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Neurogenic scapuloperoneal syndrome, Kaeser type +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 522692	NM_001927.4(DES):c.1151A>G (p.His384Arg)	DES (H384R)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GLikely pathogenic
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)	Neurogenic scapuloperoneal syndrome, Kaeser type +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 33