"GeneDx"[submitter] AND "AMH"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1183744	NC_000019.10:g.2248883A>G	AMH, LOC108783649	Single nucleotide variant	not provided	GBenign
Select item 1236042	NC_000019.10:g.2249113G>A	AMH, LOC108783649	Single nucleotide variant	not provided	GBenign
Select item 381731	NM_000479.5(AMH):c.35T>G (p.Val12Gly)	AMH, LOC108783649 (V12G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372806	NM_000479.5(AMH):c.208dup (p.Leu70fs)	AMH (L70fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1237409	NM_000479.5(AMH):c.252G>A (p.Leu84=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1326605	NM_000479.5(AMH):c.295A>T (p.Thr99Ser)	AMH (T99S)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome +1 more	GUncertain significance
Select item 1285842	NM_000479.5(AMH):c.303G>A (p.Gly101=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1241276	NM_000479.5(AMH):c.413-100G>A	AMH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257796	NM_000479.5(AMH):c.546G>A (p.Pro182=)	AMH	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1262695	NM_000479.5(AMH):c.555+50G>A	AMH	Single nucleotide variant (intron variant)	not provided	GBenign
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 1435809	NM_000479.5(AMH):c.905G>A (p.Arg302Gln)	AMH (R302Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 381531	NM_000479.5(AMH):c.974A>G (p.Gln325Arg)	AMH (Q325R)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome +2 more	GBenign/Likely benign
Select item 1303728	NM_000479.5(AMH):c.1054C>T (p.Pro352Ser)	AMH (P352S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518297	NM_000479.5(AMH):c.1239T>A (p.Gly413=)	AMH	Single nucleotide variant (synonymous variant)	Persistent Mullerian duct syndrome +1 more	GBenign
Select item 1307724	NM_000479.5(AMH):c.1565G>C (p.Arg522Pro)	AMH (R522P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253917	GRCh37/hg19 19p13.3(chr19:1952590-2698712)x3	GADD45B, BTBD2 +19 more	Copy number gain	See cases	GUncertain significance
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic
Select item 3361864	NM_000479.5(AMH):c.1013G>A (p.Arg338His)	AMH (R338H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 22