Related gene-specific medical variations for Gene (Select 29895) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237480	NM_013292.5(MYL11):c.74C>A (p.Thr25Asn)	MYL11 (T25N)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1C	GUncertain significance
Select item 3159322	NM_013292.5(MYL11):c.494C>G (p.Ala165Gly)	LOC112441444, MYL11 (A165G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550124	NM_013292.5(MYL11):c.434C>T (p.Pro145Leu)	LOC112441444, MYL11 (P145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2433958	NM_013292.5(MYL11):c.283_300dup (p.Ile100_Thr101insAspProGluAspValIle)	MYL11	Duplication (inframe_insertion)	Arthrogryposis, distal, type 1C	GUncertain significance
Select item 916687	NM_013292.5(MYL11):c.487G>A (p.Gly163Ser)	LOC112441444, MYL11 (G163S)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 916686	NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)	LOC112441444, MYL11 (C157R)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 916685	NM_013292.5(MYL11):c.470G>T (p.Cys157Phe)	LOC112441444, MYL11 (C157F)	Single nucleotide variant (missense variant)	Distal arthrogryposis +1 more	GPathogenic/Likely pathogenic
Select item 91978	NM_013292.5(MYL11):c.431C>A (p.Pro144His)	LOC112441444, MYL11 (P144H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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