"GeneDx"[submitter] AND "AMHR2"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1269702	NM_020547.3(AMHR2):c.232+33A>G	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 522208	NM_020547.3(AMHR2):c.622-6C>T	AMHR2	Single nucleotide variant (intron variant)	Persistent Mullerian duct syndrome +1 more	GBenign
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 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 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 1221414	NM_020547.3(AMHR2):c.1038G>A (p.Ser346=)	AMHR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1238122	NM_020547.3(AMHR2):c.1425+77A>G	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227079	NM_020547.3(AMHR2):c.1425+342C>T	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287956	NM_020547.3(AMHR2):c.1426-217A>G	AMHR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281142	NM_020547.3(AMHR2):c.*68T>C	AMHR2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 21