ClinVar for MedGen (Select 342367) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896650	NM_000479.5(AMH):c.1430T>C (p.Val477Ala)	AMH (V477A)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3892974	NM_020547.3(AMHR2):c.622-1G>A	AMHR2	Single nucleotide variant (splice acceptor variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3892973	NM_020547.3(AMHR2):c.49+2dup	AMHR2	Duplication (splice donor variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3779441	NM_020547.3(AMHR2):c.1219C>T (p.Arg407Ter)	AMHR2 (R407*)	Single nucleotide variant (nonsense +1 more)	Persistent Mullerian duct syndrome	GPathogenic
Select item 3583557	NM_000479.5(AMH):c.1047_1056dup (p.Thr353fs)	AMH (T353fs)	Duplication (frameshift variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3583556	NM_000479.5(AMH):c.1015dup (p.Leu339fs)	AMH (L339fs)	Duplication (frameshift variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3583555	NM_000479.5(AMH):c.343_344del (p.Leu115fs)	AMH (L115fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 3583554	NM_000479.5(AMH):c.301G>A (p.Gly101Arg)	AMH (G101R)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3583553	NM_000479.5(AMH):c.209del (p.Leu70fs)	AMH (L70fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	GPathogenic
Select item 3583552	NM_000479.5(AMH):c.118C>T (p.Arg40Ter)	AMH (R40*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3574981	NM_020547.3(AMHR2):c.1175dup (p.Leu392fs)	AMHR2 (L392fs)	Duplication (frameshift variant +1 more)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3574980	NM_020547.3(AMHR2):c.622-47C>T	AMHR2	Single nucleotide variant (intron variant)	Persistent Mullerian duct syndrome	GUncertain significance
Select item 3574979	NM_020547.3(AMHR2):c.402_422delinsAGGTAGCCACCCA (p.Gln135fs)	AMHR2 (Q135fs)	Indel (frameshift variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3574978	NM_020547.3(AMHR2):c.289C>T (p.Arg97Ter)	AMHR2 (R97*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic
Select item 3574977	NM_020547.3(AMHR2):c.229C>T (p.Gln77Ter)	AMHR2 (Q77*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3574976	NM_020547.3(AMHR2):c.78del (p.Phe27fs)	AMHR2 (F27fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	GPathogenic
Select item 3377282	NM_000479.5(AMH):c.258C>T (p.Ala86=)	AMH	Single nucleotide variant (synonymous variant)	Persistent Mullerian duct syndrome +1 more	GBenign/Likely benign
Select item 3366389	NM_020547.3(AMHR2):c.160C>T (p.Arg54Cys)	AMHR2 (R54C)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 3340463	NM_000479.5(AMH):c.1211T>C (p.Leu404Pro)	AMH (L404P)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome	GUncertain significance
Select item 3336678	NM_020547.3(AMHR2):c.514C>T (p.Arg172Ter)	AMHR2 (R172*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic/Likely pathogenic
Select item 3065466	NM_000479.5(AMH):c.1683A>T (p.Ter561Cys)	AMH	Single nucleotide variant (stop lost)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 2884050	NM_020547.3(AMHR2):c.1412G>A (p.Arg471His)	AMHR2 (R471H +1 more)	Single nucleotide variant (missense variant +1 more)	Persistent Mullerian duct syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2581234	NM_020547.3(AMHR2):c.1510C>T (p.Arg504Cys)	AMHR2 (R409C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1804920	NM_000479.5(AMH):c.1165G>T (p.Glu389Ter)	AMH (E389*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1707557	NM_020547.3(AMHR2):c.1340C>T (p.Thr447Ile)	AMHR2 (P446S +1 more)	Single nucleotide variant (missense variant +1 more)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1705324	NM_020547.3(AMHR2):c.238C>T (p.Arg80Ter)	AMHR2 (R80*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1403680	NM_000479.5(AMH):c.802A>G (p.Thr268Ala)	AMH (T268A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1344503	NM_000479.5(AMH):c.649C>T (p.Gln217Ter)	AMH (Q217*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1338687	NM_000479.5(AMH):c.1193C>T (p.Pro398Leu)	AMH (P398L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1338211	NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter)	AMHR2 (R22*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 1323119	NM_000479.5(AMH):c.151del (p.Gln51fs)	AMH (Q51fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1256004	NM_020547.3(AMHR2):c.775C>T (p.Arg259Ter)	AMHR2 (R259*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1172835	NM_020547.3(AMHR2):c.1483C>T (p.Arg495Trp)	AMHR2 (R400W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 1172834	NM_020547.3(AMHR2):c.649del (p.Val217fs)	AMHR2 (V217fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	GPathogenic
Select item 1170734	NM_000479.5(AMH):c.808C>T (p.Pro270Ser)	AMH (P270S)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome +1 more	GBenign/Likely benign
Select item 1120085	NM_020547.3(AMHR2):c.43del (p.Val15fs)	AMHR2 (V15fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 1115487	NM_000479.5(AMH):c.864C>G (p.Asp288Glu)	AMH (D288E)	Single nucleotide variant (missense variant)	Persistent Mullerian duct syndrome +1 more	GConflicting classifications of pathogenicity
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 689555	NM_020547.3(AMHR2):c.994C>T (p.Arg332Ter)	AMHR2 (R332*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GPathogenic
Select item 522208	NM_020547.3(AMHR2):c.622-6C>T	AMHR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 518296	NM_000479.5(AMH):c.146G>T (p.Ser49Ile)	AMH (S49I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 8627	NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del)	AMHR2	Deletion (inframe_deletion +1 more)	Persistent Mullerian duct syndrome +1 more	GPathogenic
Select item 8624	NM_000479.5(AMH):c.571C>T (p.Arg191Ter)	AMH, LOC130063038 +1 more (R191*)	Single nucleotide variant (non-coding transcript variant +1 more)	Persistent Mullerian duct syndrome	GPathogenic

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Items: 46