Related gene-specific medical variations for Gene (Select 100423031) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2394380	NM_000479.5(AMH):c.607C>T (p.Pro203Ser)	AMH, LOC130063038 +1 more (P203S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2193494	NM_000479.5(AMH):c.575A>G (p.Asp192Gly)	AMH, LOC130063038 +1 more (D192G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1480849	NM_000479.5(AMH):c.580C>T (p.Arg194Cys)	AMH, LOC130063038 +1 more (R194C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1355108	NM_000479.5(AMH):c.604C>T (p.Arg202Cys)	AMH, LOC130063038 +1 more (R202C)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 987678	NM_000479.5(AMH):c.563G>A (p.Cys188Tyr)	AMH, LOC130063038 +1 more (C188Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Persistent Mullerian duct syndrome	GPathogenic
Select item 390467	NM_000479.5(AMH):c.616G>C (p.Ala206Pro)	AMH, MIR4321 (A206P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 8624	NM_000479.5(AMH):c.571C>T (p.Arg191Ter)	MIR4321, AMH +1 more (R191*)	Single nucleotide variant (non-coding transcript variant +1 more)	Persistent mullerian duct syndrome, type I	GPathogenic

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