100423031[Gene ID] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
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 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
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)	not provided +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 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 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 3292826	NM_000479.5(AMH):c.617C>T (p.Ala206Val)	AMH, MIR4321 (A206V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance