Related gene-specific medical variations for Gene (Select 657) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337381	NM_004329.3:c.333+1362_531-5517del	BMPR1A	Deletion	not provided	GLikely pathogenic
Select item 3244826	NC_000010.10:g.(?_88676881)_(88683476_?)dup	BMPR1A	Duplication	Juvenile polyposis syndrome	GUncertain significance
Select item 3244825	NC_000010.10:g.(?_88516246)_(88528678_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3244824	NC_000010.10:g.(?_88671987)_(88672151_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3244823	NC_000010.10:g.(?_88681437)_(88682621_?)del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 3240936	NM_004329.3(BMPR1A):c.460C>A (p.Leu154Met)	BMPR1A (L126M +1 more)	Single nucleotide variant (missense variant +2 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 3240935	NM_004329.3(BMPR1A):c.667C>T (p.Pro223Ser)	BMPR1A (P195S +3 more)	Single nucleotide variant (missense variant +2 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 3240934	NM_004329.3(BMPR1A):c.1349T>C (p.Val450Ala)	BMPR1A (V336A +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2685385	GRCh37/hg19 10q23.2(chr10:88523988-88547531)x1	BMPR1A	Copy number loss	not provided	GUncertain significance
Select item 2680205	NM_004329.3(BMPR1A):c.79_83del (p.Asp27fs)	BMPR1A (D27fs)	Deletion (frameshift variant +2 more)	Polyposis syndrome, hereditary mixed, 2	GLikely pathogenic
Select item 2680204	NM_004329.3(BMPR1A):c.702del (p.Gln235fs)	BMPR1A (Q121fs +5 more)	Deletion (frameshift variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GLikely pathogenic
Select item 2680203	NM_004329.3(BMPR1A):c.686C>G (p.Thr229Ser)	BMPR1A (T115S +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680202	NM_004329.3(BMPR1A):c.956A>T (p.Asp319Val)	BMPR1A (D205V +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680201	NM_004329.3(BMPR1A):c.707T>A (p.Met236Lys)	BMPR1A (M122K +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680200	NM_004329.3(BMPR1A):c.196C>T (p.His66Tyr)	BMPR1A (H38Y +1 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680199	NM_004329.3(BMPR1A):c.1473+6T>A	BMPR1A	Single nucleotide variant (intron variant)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680198	NM_004329.3(BMPR1A):c.778G>C (p.Val260Leu)	BMPR1A (V146L +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680197	NM_004329.3(BMPR1A):c.1444A>T (p.Ile482Phe)	BMPR1A (I368F +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680195	NM_004329.3(BMPR1A):c.803A>C (p.Glu268Ala)	BMPR1A (E154A +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2680194	NM_004329.3(BMPR1A):c.736G>A (p.Gly246Arg)	BMPR1A (G218R +5 more)	Single nucleotide variant (missense variant +1 more)	Polyposis syndrome, hereditary mixed, 2	GUncertain significance
Select item 2439537	NM_004329.3(BMPR1A):c.364A>G (p.Ile122Val)	BMPR1A (I122V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439536	NM_004329.3(BMPR1A):c.647C>T (p.Ser216Phe)	BMPR1A (S188F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676275	NM_004329.3(BMPR1A):c.1474-1G>C	BMPR1A	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis syndrome	GPathogenic
Select item 1277039	NC_000010.11:g.86756333G>C	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1264362	NC_000010.11:g.86756585C>T	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1240722	NM_004329.3(BMPR1A):c.-268+18G>C	BMPR1A, LOC130004245	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229698	NC_000010.11:g.86756209G>A	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1201703	NC_000010.11:g.86756413T>G	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1195222	NC_000010.11:g.86756311G>T	BMPR1A, LOC130004245	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1068880	NC_000010.10:g.(?_88669791)_88681457del	BMPR1A	Deletion	Juvenile polyposis syndrome	GPathogenic
Select item 978679	NM_004329.3(BMPR1A):c.1114A>T (p.Lys372Ter)	BMPR1A (K372*)	Single nucleotide variant (nonsense)	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 880283	NM_004329.3(BMPR1A):c.-468G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 880282	NM_004329.3(BMPR1A):c.-500A>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 880281	NM_004329.3(BMPR1A):c.-534G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 877501	NM_004329.3(BMPR1A):c.-314C>T	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 877500	NM_004329.3(BMPR1A):c.-336C>T	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 571700	NM_004329.3(BMPR1A):c.-547_-268+1del	BMPR1A, LOC130004245	Deletion (splice donor variant)	Generalized juvenile polyposis/juvenile polyposis coli	GPathogenic
Select item 513176	NM_004329.3(BMPR1A):c.-287A>T	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512395	NM_004329.3(BMPR1A):c.-277T>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507399	NM_004329.3(BMPR1A):c.-275G>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 381019	NM_004329.3(BMPR1A):c.-268+20G>A	BMPR1A, LOC130004245	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 380109	NM_004329.3(BMPR1A):c.-268+15C>G	BMPR1A, LOC130004245	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 377560	NM_004329.3(BMPR1A):c.-283G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 301347	NM_004329.3(BMPR1A):c.-349T>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli +1 more	GBenign
Select item 301346	NM_004329.3(BMPR1A):c.-447T>C	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 301345	NM_004329.3(BMPR1A):c.-473G>A	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 254044	NM_004329.2(BMPR1A):c.-152-?_333+?dup	BMPR1A	Duplication	Generalized juvenile polyposis/juvenile polyposis coli	GUncertain significance
Select item 224522	NM_004329.2(BMPR1A):c.-152-?_1473+?del	BMPR1A	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 182072	NM_004329.3(BMPR1A):c.-287A>G	BMPR1A, LOC130004245	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 49