Related gene-specific medical variations for Gene (Select 9172) - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3298078	NM_003970.4(MYOM2):c.2936C>A (p.Thr979Asn)	LOC126860282, MYOM2 (T979N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298057	NM_003970.4(MYOM2):c.2805G>A (p.Met935Ile)	LOC126860282, MYOM2 (M935I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168537	NM_003970.4(MYOM2):c.2989G>C (p.Asp997His)	LOC126860282, MYOM2 (D997H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168532	NM_003970.4(MYOM2):c.2945T>G (p.Val982Gly)	LOC126860282, MYOM2 (V982G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168530	NM_003970.4(MYOM2):c.2919T>A (p.Asp973Glu)	LOC126860282, MYOM2 (D973E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168525	NM_003970.4(MYOM2):c.2875G>A (p.Glu959Lys)	LOC126860282, MYOM2 (E959K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168511	NM_003970.4(MYOM2):c.2745A>T (p.Glu915Asp)	LOC126860282, MYOM2 (E915D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168494	NM_003970.4(MYOM2):c.2679T>G (p.Asn893Lys)	LOC126264116, MYOM2 (N893K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060055	NM_003970.4(MYOM2):c.2769A>G (p.Gln923=)	LOC126860282, MYOM2	Single nucleotide variant (synonymous variant)	MYOM2-related disorder	GBenign
Select item 3057018	NM_003970.4(MYOM2):c.2780A>G (p.Tyr927Cys)	LOC126860282, MYOM2 (Y927C)	Single nucleotide variant (missense variant)	MYOM2-related disorder	GLikely benign
Select item 3049343	NM_003970.4(MYOM2):c.2883G>A (p.Val961=)	LOC126860282, MYOM2	Single nucleotide variant (synonymous variant)	MYOM2-related disorder	GLikely benign
Select item 3049272	NM_003970.4(MYOM2):c.2812G>A (p.Ala938Thr)	LOC126860282, MYOM2 (A938T)	Single nucleotide variant (missense variant)	MYOM2-related disorder	GLikely benign
Select item 3049094	NM_003970.4(MYOM2):c.2861A>G (p.Glu954Gly)	LOC126860282, MYOM2 (E954G)	Single nucleotide variant (missense variant)	MYOM2-related disorder	GBenign
Select item 3039329	NM_003970.4(MYOM2):c.2814G>A (p.Ala938=)	LOC126860282, MYOM2	Single nucleotide variant (synonymous variant)	MYOM2-related disorder	GLikely benign
Select item 3038408	NM_003970.4(MYOM2):c.2916G>T (p.Pro972=)	LOC126860282, MYOM2	Single nucleotide variant (synonymous variant)	MYOM2-related disorder	GBenign
Select item 2689519	NM_003970.4(MYOM2):c.235del (p.Glu79fs)	MYOM2 (E79fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2551941	NM_003970.4(MYOM2):c.2735G>A (p.Gly912Asp)	LOC126860282, MYOM2 (G912D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387814	NM_003970.4(MYOM2):c.2881G>T (p.Val961Leu)	LOC126860282, MYOM2 (V961L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368665	NM_003970.4(MYOM2):c.2813C>T (p.Ala938Val)	LOC126860282, MYOM2 (A938V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317207	NM_003970.4(MYOM2):c.2761G>C (p.Asp921His)	LOC126860282, MYOM2 (D921H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242932	NM_003970.4(MYOM2):c.2750G>A (p.Ser917Asn)	LOC126860282, MYOM2 (S917N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340983	GRCh37/hg19 8p23.3-23.2(chr8:2041710-2324956)x3	MYOM2	Copy number gain	not provided	GLikely benign
Select item 816824	NM_003970.4(MYOM2):c.2797C>T (p.Gln933Ter)	LOC126860282, MYOM2 (Q933*)	Single nucleotide variant (nonsense)	Flexion contracture	GUncertain significance
Select item 688373	GRCh37/hg19 8p23.3(chr8:1966117-2093069)x3	MYOM2	Copy number gain	not provided	GUncertain significance
Select item 688333	GRCh37/hg19 8p23.3(chr8:2041940-2082864)x3	MYOM2	Copy number gain	not provided	GUncertain significance
Select item 687689	GRCh37/hg19 8p23.3-23.2(chr8:2032430-2322677)x1	MYOM2	Copy number loss	not provided	GUncertain significance
Select item 687077	GRCh37/hg19 8p23.3-23.2(chr8:2028111-2330754)x3	MYOM2	Copy number gain	not provided	GUncertain significance
Select item 686301	GRCh37/hg19 8p23.3-23.2(chr8:2036732-2285156)x4	MYOM2	Copy number gain	not provided	GUncertain significance
Select item 563465	GRCh37/hg19 8p23.3-23.2(chr8:2078626-2324956)x3	MYOM2	Copy number gain	not provided	GLikely benign
Select item 563462	GRCh37/hg19 8p23.3(chr8:1957315-2190480)x1	MYOM2	Copy number loss	not provided	GUncertain significance
Select item 442614	GRCh37/hg19 8p23.3-23.2(chr8:2036427-2340612)x1	MYOM2	Copy number loss	See cases	GUncertain significance
Select item 151538	GRCh37/hg19 8p23.3(chr8:2001733-2013802)x1	MYOM2	Copy number loss	See cases	GBenign

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Links from Gene

Items: 32