ClinVar for MedGen (Select 336903) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664021	NM_005448.2(BMP15):c.611G>A (p.Arg204Gln)	BMP15 (R204Q)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GUncertain significance
Select item 2439529	NM_005448.2(BMP15):c.731G>A (p.Arg244Gln)	BMP15 (R244Q)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GUncertain significance
Select item 1685576	NM_005448.2(BMP15):c.727A>G (p.Ile243Val)	BMP15 (I243V)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic
Select item 1685575	NM_005448.2(BMP15):c.661T>C (p.Trp221Arg)	BMP15 (W221R)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic
Select item 1685574	NM_005448.2(BMP15):c.617G>A (p.Arg206His)	BMP15 (R206H)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic
Select item 1685573	NM_005448.2(BMP15):c.413G>A (p.Arg138His)	BMP15 (R138H)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic
Select item 973168	NM_005448.2(BMP15):c.985C>T (p.Arg329Cys)	BMP15 (R329C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973167	NM_005448.2(BMP15):c.-49_*34del (p.Met1fs)	BMP15 (M1fs)	Deletion (frameshift variant +3 more)	Ovarian dysgenesis 2	GPathogenic
Select item 973166	NM_005448.2(BMP15):c.462del (p.Trp155fs)	BMP15 (W155fs)	Deletion (frameshift variant)	Ovarian dysgenesis 2	GLikely pathogenic
Select item 914979	NM_005448.2(BMP15):c.520C>T (p.Pro174Ser)	BMP15 (P174S)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GLikely benign
Select item 914978	NM_005448.2(BMP15):c.162C>T (p.Gly54=)	BMP15	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 913023	NM_005448.2(BMP15):c.920A>G (p.His307Arg)	BMP15 (H307R)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GUncertain significance
Select item 913022	NM_005448.2(BMP15):c.811G>T (p.Gly271Cys)	BMP15 (G271C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 632053	NM_005448.2(BMP15):c.596del (p.Gly199fs)	BMP15 (G199fs)	Deletion (frameshift variant)	Ovarian dysgenesis 2	GUncertain significance
Select item 368541	NM_005448.2(BMP15):c.1011C>T (p.His337=)	BMP15	Single nucleotide variant (synonymous variant)	Ovarian dysgenesis 2 +1 more	GBenign
Select item 368540	NM_005448.2(BMP15):c.598C>T (p.His200Tyr)	BMP15 (H200Y)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GBenign
Select item 368539	NM_005448.2(BMP15):c.581T>C (p.Phe194Ser)	BMP15 (F194S)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +1 more	GBenign/Likely benign
Select item 368538	NM_005448.2(BMP15):c.443T>C (p.Leu148Pro)	BMP15 (L148P)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +1 more	GBenign/Likely benign
Select item 259777	NM_005448.2(BMP15):c.852C>T (p.Ser284=)	BMP15	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 259776	NM_005448.2(BMP15):c.819A>C (p.Ser273=)	BMP15	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 259774	NM_005448.2(BMP15):c.13A>C (p.Ser5Arg)	BMP15 (S5R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 259773	NM_005448.2(BMP15):c.*13G>A	BMP15	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 136523	NM_005448.2(BMP15):c.308A>G (p.Asn103Ser)	BMP15 (N103S)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +2 more	GBenign
Select item 136522	NM_005448.2(BMP15):c.-9C>G	BMP15	Single nucleotide variant (5 prime UTR variant)	Ovarian dysgenesis 2 +2 more	GBenign
Select item 11474	NM_005448.2(BMP15):c.202C>T (p.Arg68Trp)	BMP15 (R68W)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2 +1 more	GConflicting classifications of pathogenicity
Select item 11472	NM_005448.2(BMP15):c.538G>A (p.Ala180Thr)	BMP15 (A180T)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GConflicting classifications of pathogenicity
Select item 11471	NM_005448.2(BMP15):c.226C>T (p.Arg76Cys)	BMP15 (R76C)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GConflicting classifications of pathogenicity
Select item 11470	NM_005448.2(BMP15):c.704A>G (p.Tyr235Cys)	BMP15 (Y235C)	Single nucleotide variant (missense variant)	Ovarian dysgenesis 2	GPathogenic

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Items: 28