ClinVar for Gene (Select 657) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063131	GRCh37/hg19 10q23.2(chr10:88376441-88628991)x3	BMPR1A, LDB3 +1 more	Copy number gain	not specified	GUncertain significance
Select item 3021379	NM_004329.3(BMPR1A):c.169C>T (p.Pro57Ser)	BMPR1A (P29S +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3018783	NM_004329.3(BMPR1A):c.1138G>C (p.Asp380His)	BMPR1A (D266H +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3017861	NM_004329.3(BMPR1A):c.1537A>G (p.Thr513Ala)	BMPR1A (T513A +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3013479	NM_004329.3(BMPR1A):c.675+15C>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 3010616	NM_004329.3(BMPR1A):c.623A>G (p.Asp208Gly)	BMPR1A (D224G +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 3006874	NM_004329.3(BMPR1A):c.1377C>T (p.Asn459=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 3004492	NM_004329.3(BMPR1A):c.530+11A>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2996753	NM_004329.3(BMPR1A):c.868+18C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2994203	NM_004329.3(BMPR1A):c.231-3T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2989754	NM_004329.3(BMPR1A):c.676-9dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 2985599	NM_004329.3(BMPR1A):c.1343-7C>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2980430	NM_004329.3(BMPR1A):c.930T>C (p.Asp310=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2962986	NM_004329.3(BMPR1A):c.240A>G (p.Gly80=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2962393	NM_004329.3(BMPR1A):c.1166+3G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2960204	NM_004329.3(BMPR1A):c.1223T>A (p.Met408Lys)	BMPR1A (M294K +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2957931	NM_004329.3(BMPR1A):c.1191C>T (p.Pro397=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2918155	NM_004329.3(BMPR1A):c.1131C>T (p.Cys377=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2894650	NM_004329.3(BMPR1A):c.658T>A (p.Ser220Thr)	BMPR1A (S220T +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2884432	NM_004329.3(BMPR1A):c.675+11C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2882826	NM_004329.3(BMPR1A):c.68-14del	BMPR1A	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2881153	NM_004329.3(BMPR1A):c.342A>G (p.Pro114=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2875306	NM_004329.3(BMPR1A):c.1084G>C (p.Asp362His)	BMPR1A (D362H +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2874516	NM_004329.3(BMPR1A):c.1342+4G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2873324	NM_004329.3(BMPR1A):c.675+2T>C	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2866871	NM_004329.3(BMPR1A):c.892G>T (p.Gly298Cys)	BMPR1A (G298C +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2866138	NM_004329.3(BMPR1A):c.231-2A>G	BMPR1A	Single nucleotide variant (splice acceptor variant)	Juvenile polyposis syndrome	GLikely pathogenic
Select item 2865122	NM_004329.3(BMPR1A):c.1509C>T (p.Cys503=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2864299	NM_004329.3(BMPR1A):c.1167-3C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2863668	NM_004329.3(BMPR1A):c.168G>T (p.Leu56Phe)	BMPR1A (L28F +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2862107	NM_004329.3(BMPR1A):c.1166+2dup	BMPR1A	Duplication (splice donor variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2861991	NM_004329.3(BMPR1A):c.230+20C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2861413	NM_004329.3(BMPR1A):c.664C>G (p.Leu222Val)	BMPR1A (L194V +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2859988	NM_004329.3(BMPR1A):c.160G>T (p.Asp54Tyr)	BMPR1A (D54Y +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2858496	NM_004329.3(BMPR1A):c.613T>C (p.Ser205Pro)	BMPR1A (S205P +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2858031	NM_004329.3(BMPR1A):c.1056C>A (p.Thr352=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2856110	NM_004329.3(BMPR1A):c.430+4G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2851621	NM_004329.3(BMPR1A):c.67+1G>A	BMPR1A	Single nucleotide variant (splice donor variant +1 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2851249	NM_004329.3(BMPR1A):c.851G>A (p.Arg284His)	BMPR1A (R170H +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2850867	NM_004329.3(BMPR1A):c.1533A>T (p.Arg511Ser)	BMPR1A (R536S +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2850046	NM_004329.3(BMPR1A):c.549C>A (p.Ile183=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2849080	NM_004329.3(BMPR1A):c.37G>C (p.Ala13Pro)	BMPR1A (A13P)	Single nucleotide variant (missense variant +3 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2849065	NM_004329.3(BMPR1A):c.1307T>C (p.Ile436Thr)	BMPR1A (I322T +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2846868	NM_004329.3(BMPR1A):c.944G>A (p.Gly315Glu)	BMPR1A (G201E +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2844400	NM_004329.3(BMPR1A):c.333+18A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2841183	NM_004329.3(BMPR1A):c.701T>G (p.Ile234Ser)	BMPR1A (I206S +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2840866	NM_004329.3(BMPR1A):c.76C>T (p.Leu26=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2840168	NM_004329.3(BMPR1A):c.868+13T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2834938	NM_004329.3(BMPR1A):c.15C>G (p.Tyr5Ter)	BMPR1A (Y5*)	Single nucleotide variant (nonsense +3 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2833822	NM_004329.3(BMPR1A):c.672A>G (p.Leu224=)	BMPR1A	Single nucleotide variant (synonymous variant +2 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2832393	NM_004329.3(BMPR1A):c.112G>T (p.Asp38Tyr)	BMPR1A (D10Y +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2827367	NM_004329.3(BMPR1A):c.1343-20G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2826693	NM_004329.3(BMPR1A):c.510del (p.Ser171fs)	BMPR1A (S171fs +1 more)	Deletion (frameshift variant +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2824907	NM_004329.3(BMPR1A):c.76C>G (p.Leu26Val)	BMPR1A (L26V)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2824641	NM_004329.3(BMPR1A):c.647C>A (p.Ser216Tyr)	BMPR1A (S241Y +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2821287	NM_004329.3(BMPR1A):c.1166+9T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2820885	NM_004329.3(BMPR1A):c.231-7del	BMPR1A	Deletion (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2820582	NM_004329.3(BMPR1A):c.529A>C (p.Lys177Gln)	BMPR1A (K149Q +1 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2819058	NM_004329.3(BMPR1A):c.67+6T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2817772	NM_004329.3(BMPR1A):c.153A>G (p.Ala51=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2816630	NM_004329.3(BMPR1A):c.675+11C>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2815330	NM_004329.3(BMPR1A):c.1144G>A (p.Gly382Ser)	BMPR1A (G268S +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2814447	NM_004329.3(BMPR1A):c.1573_1588del (p.Met524_Val525insTer)	BMPR1A	Deletion (nonsense +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2812507	NM_004329.3(BMPR1A):c.230+18C>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2812455	NM_004329.3(BMPR1A):c.483dup (p.Val162fs)	BMPR1A (V162fs +1 more)	Duplication (frameshift variant +2 more)	Juvenile polyposis syndrome	GPathogenic
Select item 2810864	NM_004329.3(BMPR1A):c.231-10del	BMPR1A	Deletion (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 2809874	NM_004329.3(BMPR1A):c.676-17T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2809828	NM_004329.3(BMPR1A):c.265G>A (p.Asp89Asn)	BMPR1A (D61N +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2808852	NM_004329.3(BMPR1A):c.531-5A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GUncertain significance
Select item 2806679	NM_004329.3(BMPR1A):c.868+12C>T	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2804154	NM_004329.3(BMPR1A):c.975A>C (p.Thr325=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2802262	NM_004329.3(BMPR1A):c.517T>C (p.Cys173Arg)	BMPR1A (C173R +1 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2801163	NM_004329.3(BMPR1A):c.1575T>C (p.Val525=)	BMPR1A	Single nucleotide variant (synonymous variant +1 more)	Juvenile polyposis syndrome	GLikely benign
Select item 2799695	NM_004329.3(BMPR1A):c.997A>G (p.Lys333Glu)	BMPR1A (K219E +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2795323	NM_004329.3(BMPR1A):c.1180G>A (p.Val394Ile)	BMPR1A (V280I +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2794751	NM_004329.3(BMPR1A):c.1163A>G (p.Asn388Ser)	BMPR1A (N274S +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2792771	NM_004329.3(BMPR1A):c.1408A>G (p.Met470Val)	BMPR1A (M442V +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2792443	NM_004329.3(BMPR1A):c.1516C>T (p.His506Tyr)	BMPR1A (H392Y +5 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2791545	NM_004329.3(BMPR1A):c.231-18T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2786887	NM_004329.3(BMPR1A):c.571C>G (p.Arg191Gly)	BMPR1A (R191G +3 more)	Single nucleotide variant (missense variant +2 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 2786756	NM_004329.3(BMPR1A):c.531-10T>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2774820	NM_004329.3(BMPR1A):c.1505A>G (p.Glu502Gly)	BMPR1A (E474G +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774819	NM_004329.3(BMPR1A):c.1394C>A (p.Pro465Gln)	BMPR1A (P490Q +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774818	NM_004329.3(BMPR1A):c.1368A>T (p.Pro456=)	BMPR1A	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2774817	NM_004329.3(BMPR1A):c.1343-6T>G	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774816	NM_004329.3(BMPR1A):c.1343-11_1343-10delinsCG	BMPR1A	Indel (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2774815	NM_004329.3(BMPR1A):c.1343-13_1343-11delinsTAC	BMPR1A	Indel (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2774814	NM_004329.3(BMPR1A):c.1202G>C (p.Arg401Thr)	BMPR1A (R401T +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774813	NM_004329.3(BMPR1A):c.1176T>G (p.Asn392Lys)	BMPR1A (N408K +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774812	NM_004329.3(BMPR1A):c.1151C>T (p.Ala384Val)	BMPR1A (A270V +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774811	NM_004329.3(BMPR1A):c.1121G>A (p.Gly374Glu)	BMPR1A (G374E +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774810	NM_004329.3(BMPR1A):c.1092G>T (p.Lys364Asn)	BMPR1A (K250N +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774807	NM_004329.3(BMPR1A):c.671T>C (p.Leu224Ser)	BMPR1A (L196S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774806	NM_004329.3(BMPR1A):c.599T>C (p.Ile200Thr)	BMPR1A (I200T +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774805	NM_004329.3(BMPR1A):c.475T>A (p.Ser159Thr)	BMPR1A (S131T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774804	NM_004329.3(BMPR1A):c.-2C>G	BMPR1A	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2773104	NM_004329.3(BMPR1A):c.68-14A>C	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign
Select item 2773014	NM_004329.3(BMPR1A):c.1474-4dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome	GBenign
Select item 2771711	NM_004329.3(BMPR1A):c.675+19T>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome	GLikely benign

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