269[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 1338400	NM_020547.3(AMHR2):c.3G>A (p.Met1Ile)	AMHR2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3115767	NM_020547.3(AMHR2):c.23G>C (p.Trp8Ser)	AMHR2 (W8S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1120085	NM_020547.3(AMHR2):c.43del (p.Val15fs)	AMHR2 (V15fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 2957524	NM_020547.3(AMHR2):c.49+14G>C	AMHR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233614	NM_020547.3(AMHR2):c.49+149T>A	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280959	NM_020547.3(AMHR2):c.50-116C>A	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256033	NM_020547.3(AMHR2):c.55C>G (p.Pro19Ala)	AMHR2 (P19A)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1338211	NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter)	AMHR2 (R22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1131476	NM_020547.3(AMHR2):c.97C>T (p.Arg33Trp)	AMHR2 (R33W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2969058	NM_020547.3(AMHR2):c.118_119del (p.Gly40fs)	AMHR2 (G40fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1076254	NM_020547.3(AMHR2):c.128dup (p.Asp44fs)	AMHR2 (D44fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 3115755	NM_020547.3(AMHR2):c.161G>A (p.Arg54His)	AMHR2 (R54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337646	NM_020547.3(AMHR2):c.170A>G (p.Tyr57Cys)	AMHR2 (Y57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2721021	NM_020547.3(AMHR2):c.171C>T (p.Tyr57=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 434142	NM_020547.3(AMHR2):c.176G>A (p.Arg59His)	AMHR2 (R59H)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2340564	NM_020547.3(AMHR2):c.203C>A (p.Thr68Asn)	AMHR2 (T68N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1716413	NM_020547.3(AMHR2):c.205C>G (p.Gln69Glu)	AMHR2 (Q69E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731907	NM_020547.3(AMHR2):c.211C>A (p.Arg71=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227039	NM_020547.3(AMHR2):c.212G>A (p.Arg71Gln)	AMHR2 (R71Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2643047	NM_020547.3(AMHR2):c.219G>A (p.Gln73=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8626	NM_020547.3(AMHR2):c.232+1G>A	AMHR2	Single nucleotide variant (splice donor variant)	Persistent mullerian duct syndrome, type II	GPathogenic
Select item 3008873	NM_020547.3(AMHR2):c.232+18T>C	AMHR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269702	NM_020547.3(AMHR2):c.232+33A>G	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 798295	NM_020547.3(AMHR2):c.237C>T (p.Cys79=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2399430	NM_020547.3(AMHR2):c.322A>T (p.Thr108Ser)	AMHR2 (T108S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307806	NM_020547.3(AMHR2):c.322A>C (p.Thr108Pro)	AMHR2 (T108P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366679	NM_020547.3(AMHR2):c.352G>A (p.Ala118Thr)	AMHR2 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256035	NM_020547.3(AMHR2):c.355A>G (p.Asn119Asp)	AMHR2 (N119D)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2604133	NM_020547.3(AMHR2):c.356A>C (p.Asn119Thr)	AMHR2 (N119T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1510902	NM_020547.3(AMHR2):c.416C>T (p.Ala139Val)	AMHR2 (A139V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1240509	NM_020547.3(AMHR2):c.425-29C>T	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388365	NM_020547.3(AMHR2):c.502G>A (p.Ala168Thr)	AMHR2 (A168T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2707205	NM_020547.3(AMHR2):c.502+10C>T	AMHR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2056710	NM_020547.3(AMHR2):c.503C>T (p.Ala168Val)	AMHR2 (A168V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2862701	NM_020547.3(AMHR2):c.507G>C (p.Leu169=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3336678	NM_020547.3(AMHR2):c.514C>T (p.Arg172Ter)	AMHR2 (R172*)	Single nucleotide variant (nonsense)	Persistent Mullerian duct syndrome	GLikely pathogenic
Select item 1256005	NM_020547.3(AMHR2):c.515G>A (p.Arg172Gln)	AMHR2 (R172Q)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2321475	NM_020547.3(AMHR2):c.547C>T (p.Pro183Ser)	AMHR2 (P183S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292852	NM_020547.3(AMHR2):c.583G>A (p.Val195Met)	AMHR2 (V195M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249377	NM_020547.3(AMHR2):c.595G>C (p.Glu199Gln)	AMHR2 (E199Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 8628	NM_020547.3(AMHR2):c.596del (p.Glu199fs)	AMHR2 (E199fs)	Deletion (frameshift variant)	Persistent mullerian duct syndrome, type II	GPathogenic
Select item 522208	NM_020547.3(AMHR2):c.622-6C>T	AMHR2	Single nucleotide variant (intron variant)	Persistent Mullerian duct syndrome +1 more	GBenign
Select item 1172834	NM_020547.3(AMHR2):c.649del (p.Val217fs)	AMHR2 (V217fs)	Deletion (frameshift variant)	Persistent Mullerian duct syndrome	GPathogenic
Select item 2889355	NM_020547.3(AMHR2):c.657C>T (p.Ala219=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1508401	NM_020547.3(AMHR2):c.658G>C (p.Gly220Arg)	AMHR2 (G220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292857	NM_020547.3(AMHR2):c.661C>G (p.Gln221Glu)	AMHR2 (Q221E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2988680	NM_020547.3(AMHR2):c.695T>G (p.Phe232Cys)	AMHR2 (F232C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056619	NM_020547.3(AMHR2):c.701C>T (p.Pro234Leu)	AMHR2 (P234L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3115788	NM_020547.3(AMHR2):c.707C>A (p.Ser236Tyr)	AMHR2 (S236Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479615	NM_020547.3(AMHR2):c.731G>A (p.Arg244Lys)	AMHR2 (R244K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318985	NM_020547.3(AMHR2):c.745C>A (p.Leu249Ile)	AMHR2 (L249I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734341	NM_020547.3(AMHR2):c.762C>T (p.His254=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1256004	NM_020547.3(AMHR2):c.775C>T (p.Arg259Ter)	AMHR2 (R259*)	Single nucleotide variant (nonsense)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1307816	NM_020547.3(AMHR2):c.778T>A (p.Phe260Ile)	AMHR2 (F260I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075953	NM_020547.3(AMHR2):c.808C>T (p.Arg270Cys)	AMHR2 (R270C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338945	NM_020547.3(AMHR2):c.846T>G (p.His282Gln)	AMHR2 (H282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1237305	NM_020547.3(AMHR2):c.852+334T>C	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277440	NM_020547.3(AMHR2):c.853-10G>A	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2607994	NM_020547.3(AMHR2):c.895G>C (p.Gly299Arg)	AMHR2 (G299R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2045096	NM_020547.3(AMHR2):c.903C>T (p.Ser301=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3292843	NM_020547.3(AMHR2):c.908G>A (p.Arg303Gln)	AMHR2 (R303Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022055	NM_020547.3(AMHR2):c.918G>A (p.Leu306=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1268760	NM_020547.3(AMHR2):c.967+90G>A	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290437	NM_020547.3(AMHR2):c.967+198T>C	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2542044	NM_020547.3(AMHR2):c.968G>A (p.Gly323Asp)	AMHR2 (G323D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276988	NM_020547.3(AMHR2):c.985A>G (p.Ile329Val)	AMHR2 (I329V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3338972	NM_020547.3(AMHR2):c.997G>T (p.Asp333Tyr)	AMHR2 (D333Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115729	NM_020547.3(AMHR2):c.1013A>G (p.Asn338Ser)	AMHR2 (N338S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2884049	NM_020547.3(AMHR2):c.1024C>T (p.Arg342Trp)	AMHR2 (R342W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1221414	NM_020547.3(AMHR2):c.1038G>A (p.Ser346=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1540477	NM_020547.3(AMHR2):c.1054C>T (p.Leu352=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 434143	NM_020547.3(AMHR2):c.1062T>G (p.Leu354=)	AMHR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1801991	NM_020547.3(AMHR2):c.1101G>T (p.Trp367Cys)	AMHR2 (W367C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2985539	NM_020547.3(AMHR2):c.1140+6T>C	AMHR2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1919701	NM_020547.3(AMHR2):c.1141-17C>T	AMHR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961245	NM_020547.3(AMHR2):c.1141-16G>A	AMHR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858455	NM_020547.3(AMHR2):c.1141-3C>T	AMHR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3115736	NM_020547.3(AMHR2):c.1159A>G (p.Met387Val)	AMHR2 (M387V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1338401	NM_020547.3(AMHR2):c.1216C>T (p.Arg406Ter)	AMHR2 (R406*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 8629	NM_020547.3(AMHR2):c.1217G>A (p.Arg406Gln)	AMHR2 (R406Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3115740	NM_020547.3(AMHR2):c.1268G>A (p.Arg423His)	AMHR2 (R423H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 619071	NM_020547.3(AMHR2):c.1280T>G (p.Leu427Trp)	AMHR2 (L427W)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 1582030	NM_020547.3(AMHR2):c.1288+11G>A	AMHR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946615	NM_020547.3(AMHR2):c.1295G>A (p.Ser432Asn)	AMHR2 (S432N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2322015	NM_020547.3(AMHR2):c.1297C>T (p.Pro433Ser)	AMHR2 (P433S)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 8627	NM_020547.3(AMHR2):c.1332_1358del (p.Gly445_Leu453del)	AMHR2	Deletion (inframe_deletion +1 more)	not provided +1 more	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 2287149	NM_020547.3(AMHR2):c.1346C>T (p.Thr449Ile)	AMHR2 (P448S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409129	NM_020547.3(AMHR2):c.1382G>T (p.Arg461Met)	AMHR2 (G460* +1 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 372896	NM_020547.3(AMHR2):c.1387C>T (p.Arg463Cys)	AMHR2 (R463C)	Single nucleotide variant (synonymous variant +2 more)	AMHR2-related disorder +1 more	GLikely pathogenic
Select item 2283128	NM_020547.3(AMHR2):c.1411C>T (p.Arg471Cys)	AMHR2 (R471C)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2884050	NM_020547.3(AMHR2):c.1412G>A (p.Arg471His)	AMHR2 (R471H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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