C2931112[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333215	NM_005259.3(MSTN):c.*1514C>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333216	NM_005259.3(MSTN):c.*1450T>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333217	NM_005259.3(MSTN):c.*1362A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333218	NM_005259.3(MSTN):c.*1332A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 898411	NM_005259.3(MSTN):c.*1316C>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 898412	NM_005259.3(MSTN):c.*1273C>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333219	NM_005259.3(MSTN):c.*1203G>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333220	NM_005259.3(MSTN):c.*1145del	C2orf88, MSTN	Deletion (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 333221	NM_005259.3(MSTN):c.*1073G>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 895418	NM_005259.3(MSTN):c.*1063A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333222	NM_005259.3(MSTN):c.*923T>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 895419	NM_005259.3(MSTN):c.*784G>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333223	NM_005259.3(MSTN):c.*742C>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333224	NM_005259.3(MSTN):c.*697T>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 895420	NM_005259.3(MSTN):c.*695A>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333225	NM_005259.3(MSTN):c.*574G>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 333226	NM_005259.3(MSTN):c.*493G>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333227	NM_005259.3(MSTN):c.*395A>C	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 896815	NM_005259.3(MSTN):c.*336C>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333228	NM_005259.3(MSTN):c.*290C>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333229	NM_005259.3(MSTN):c.*273C>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333230	NM_005259.3(MSTN):c.*259A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333231	NM_005259.3(MSTN):c.*135G>A	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 896816	NM_005259.3(MSTN):c.*127T>C	MSTN, C2orf88	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333232	NM_005259.3(MSTN):c.*121A>G	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333233	NM_005259.3(MSTN):c.*41G>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 897309	NM_005259.3(MSTN):c.*40G>T	C2orf88, MSTN	Single nucleotide variant (3 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 897310	NM_005259.3(MSTN):c.1085G>A (p.Gly362Glu)	C2orf88, MSTN (G362E)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333234	NM_005259.3(MSTN):c.1062T>C (p.Asn354=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 897311	NM_005259.3(MSTN):c.897C>T (p.Ile299=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 897312	NM_005259.3(MSTN):c.796A>C (p.Arg266=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333235	NM_005259.3(MSTN):c.748-3C>T	C2orf88, MSTN	Single nucleotide variant (intron variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 898474	NM_005259.3(MSTN):c.747+8A>G	C2orf88, MSTN	Single nucleotide variant (intron variant)	Myostatin-related muscle hypertrophy +1 more	GBenign/Likely benign
Select item 333236	NM_005259.3(MSTN):c.674T>C (p.Ile225Thr)	C2orf88, MSTN (I225T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 333237	NM_005259.3(MSTN):c.551C>T (p.Thr184Ile)	C2orf88, MSTN (T184I)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 898475	NM_005259.3(MSTN):c.547G>C (p.Gly183Arg)	C2orf88, MSTN (G183R)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 898476	NM_005259.3(MSTN):c.516A>C (p.Gln172His)	C2orf88, MSTN (Q172H)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 898477	NM_005259.3(MSTN):c.513G>A (p.Val171=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333238	NM_005259.3(MSTN):c.490G>A (p.Glu164Lys)	C2orf88, MSTN (E164K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 333239	NM_005259.3(MSTN):c.466C>A (p.Leu156Ile)	C2orf88, MSTN (L156I)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 65688	NM_005259.3(MSTN):c.458A>G (p.Lys153Arg)	C2orf88, MSTN (K153R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 895482	NM_005259.3(MSTN):c.453A>G (p.Val151=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333240	NM_005259.3(MSTN):c.386T>G (p.Met129Arg)	C2orf88, MSTN (M129R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 333241	NM_005259.3(MSTN):c.306C>T (p.Ser102=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 333242	NM_005259.3(MSTN):c.263G>A (p.Arg88Gln)	C2orf88, MSTN (R88Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 333243	NM_005259.3(MSTN):c.180C>T (p.Ile60=)	C2orf88, MSTN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 65687	NM_005259.3(MSTN):c.163G>A (p.Ala55Thr)	C2orf88, MSTN (A55T)	Single nucleotide variant (missense variant)	MSTN-related condition +1 more	GBenign
Select item 895483	NM_005259.3(MSTN):c.98T>C (p.Val33Ala)	C2orf88, MSTN (V33A)	Single nucleotide variant (missense variant)	Myostatin-related muscle hypertrophy	GUncertain significance
Select item 333244	NM_005259.3(MSTN):c.-17A>C	C2orf88, MSTN	Single nucleotide variant (5 prime UTR variant)	Myostatin-related muscle hypertrophy	GBenign
Select item 333245	NM_005259.3(MSTN):c.-44GAA[1]	C2orf88, MSTN	Microsatellite (5 prime UTR variant)	Myostatin-related muscle hypertrophy	GLikely benign
Select item 896884	NM_005259.3(MSTN):c.-99G>A	C2orf88, MSTN	Single nucleotide variant (5 prime UTR variant)	Myostatin-related muscle hypertrophy	GUncertain significance

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Items: 51