Related gene-specific medical variations for Gene (Select 114803) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2996025	NM_001085487.3(MYSM1):c.65C>T (p.Pro22Leu)	LOC129930616, MYSM1 (P22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956823	NM_001085487.3(MYSM1):c.9T>G (p.Ala3=)	LOC129930616, MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830720	NM_001085487.3(MYSM1):c.68+18G>A	LOC129930616, MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758279	NM_001085487.3(MYSM1):c.36G>C (p.Gly12=)	LOC129930616, MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715453	NM_001085487.3(MYSM1):c.2T>G (p.Met1Arg)	MYSM1, LOC129930616 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2501775	NM_001085487.3(MYSM1):c.412C>T (p.Arg138Ter)	MYSM1 (R138*)	Single nucleotide variant (nonsense)	Bone marrow failure syndrome 4	GPathogenic
Select item 2476843	NM_001085487.3(MYSM1):c.61C>A (p.Gln21Lys)	LOC129930616, MYSM1 (Q21K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442104	NM_001085487.3(MYSM1):c.1146_1149del (p.Asp382fs)	MYSM1 (D382fs)	Microsatellite (frameshift variant)	Bone marrow failure syndrome 4	GLikely pathogenic
Select item 2207191	NM_001085487.3(MYSM1):c.43G>A (p.Val15Ile)	LOC129930616, MYSM1 (V15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2177998	NM_001085487.3(MYSM1):c.22G>A (p.Val8Met)	LOC129930616, MYSM1 (V8M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171221	NM_001085487.3(MYSM1):c.15G>A (p.Glu5=)	LOC129930616, MYSM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2070634	NM_001085487.3(MYSM1):c.6G>C (p.Ala2=)	LOC129930616, MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040213	NM_001085487.3(MYSM1):c.64C>G (p.Pro22Ala)	LOC129930616, MYSM1 (P22A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966572	NM_001085487.3(MYSM1):c.17C>A (p.Ala6Glu)	LOC129930616, MYSM1 (A6E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953997	NM_001085487.3(MYSM1):c.53C>T (p.Ala18Val)	LOC129930616, MYSM1 (A18V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1715621	NM_001085487.3(MYSM1):c.19G>C (p.Asp7His)	LOC129930616, MYSM1 (D7H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645687	NM_001085487.3(MYSM1):c.68+11G>C	LOC129930616, MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645427	NM_001085487.3(MYSM1):c.68+20T>G	LOC129930616, MYSM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581922	NM_001085487.3(MYSM1):c.6G>A (p.Ala2=)	LOC129930616, MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1506187	NM_001085487.3(MYSM1):c.20A>T (p.Asp7Val)	LOC129930616, MYSM1 (D7V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1481222	NM_001085487.3(MYSM1):c.55G>C (p.Gly19Arg)	LOC129930616, MYSM1 (G19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1458750	NM_001085487.3(MYSM1):c.18G>A (p.Ala6=)	LOC129930616, MYSM1	Single nucleotide variant (synonymous variant)	MYSM1-related condition +1 more	GLikely benign
Select item 1407252	NM_001085487.3(MYSM1):c.44T>C (p.Val15Ala)	LOC129930616, MYSM1 (V15A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404533	NM_001085487.3(MYSM1):c.68G>A (p.Gly23Glu)	LOC129930616, MYSM1 (G23E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399784	NM_001085487.3(MYSM1):c.13G>A (p.Glu5Lys)	LOC129930616, MYSM1 (E5K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1077576	NM_001085487.3(MYSM1):c.30C>T (p.Ile10=)	LOC129930616, MYSM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806143	NM_001085487.3(MYSM1):c.2271-2A>G	MYSM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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Links from Gene

Items: 27