ClinVar for Gene (Select 658) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367826	NM_001203.3(BMPR1B):c.1357T>C (p.Phe453Leu)	BMPR1B (F453L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246657	NC_000004.11:g.(?_96025576)_(96036958_?)del	BMPR1B	Deletion	Type A2 brachydactyly +1 more	GPathogenic
Select item 3134597	NM_001203.3(BMPR1B):c.738A>T (p.Glu246Asp)	BMPR1B (E276D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134596	NM_001203.3(BMPR1B):c.680A>T (p.Lys227Met)	BMPR1B (K227M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134595	NM_001203.3(BMPR1B):c.245G>A (p.Arg82Gln)	BMPR1B (R82Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3134594	NM_001203.3(BMPR1B):c.121G>T (p.Asp41Tyr)	BMPR1B (D71Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065504	NM_001256793.2:c.-131339_868+386del	BMPR1B	Deletion	Type A2 brachydactyly	GLikely pathogenic
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3055277	NM_001203.3(BMPR1B):c.-17-52679G>A	BMPR1B	Single nucleotide variant (synonymous variant +1 more)	BMPR1B-related disorder	GLikely benign
Select item 3050330	NM_001203.3(BMPR1B):c.-17-52640A>G	BMPR1B	Single nucleotide variant (synonymous variant +1 more)	BMPR1B-related disorder	GLikely benign
Select item 3035814	NM_001203.3(BMPR1B):c.-17-52674A>G	BMPR1B (H12R)	Single nucleotide variant (missense variant +1 more)	BMPR1B-related disorder	GBenign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2954307	NM_001203.3(BMPR1B):c.1393C>T (p.Gln465Ter)	BMPR1B (Q465* +1 more)	Single nucleotide variant (nonsense)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2953682	NM_001203.3(BMPR1B):c.836C>T (p.Thr279Ile)	BMPR1B (T279I +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2951718	NM_001203.3(BMPR1B):c.524C>G (p.Ser175Cys)	BMPR1B (S175C +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2950117	NM_001203.3(BMPR1B):c.725T>G (p.Phe242Cys)	BMPR1B (F242C +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2949916	NM_001203.3(BMPR1B):c.246+10A>T	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2948705	NM_001203.3(BMPR1B):c.247G>T (p.Asp83Tyr)	BMPR1B (D113Y +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2948384	NM_001203.3(BMPR1B):c.1365C>T (p.Asn455=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2948220	NM_001203.3(BMPR1B):c.886C>T (p.Leu296=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2947513	NM_001203.3(BMPR1B):c.1347A>G (p.Leu449=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2947440	NM_001203.3(BMPR1B):c.851A>C (p.Asn284Thr)	BMPR1B (N284T +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2946389	NM_001203.3(BMPR1B):c.289A>T (p.Thr97Ser)	BMPR1B (T127S +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2945775	NM_001203.3(BMPR1B):c.586-19G>A	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2945613	NM_001203.3(BMPR1B):c.906G>C (p.Leu302=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GBenign
Select item 2943740	NM_001203.3(BMPR1B):c.621_622delinsCC (p.Lys208Gln)	BMPR1B (K208Q +1 more)	Indel (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2942955	NM_001203.3(BMPR1B):c.1094A>G (p.Asp365Gly)	BMPR1B (D365G +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2942439	NM_001203.3(BMPR1B):c.67C>G (p.Pro23Ala)	BMPR1B (P53A +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2939663	NM_001203.3(BMPR1B):c.725T>A (p.Phe242Tyr)	BMPR1B (F242Y +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2938782	NM_001203.3(BMPR1B):c.47A>G (p.Glu16Gly)	BMPR1B (E16G +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2938456	NM_001203.3(BMPR1B):c.425T>C (p.Ile142Thr)	BMPR1B (I142T +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GUncertain significance
Select item 2937962	NM_001203.3(BMPR1B):c.247G>C (p.Asp83His)	BMPR1B (D113H +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2936889	NM_001203.3(BMPR1B):c.622A>G (p.Lys208Glu)	BMPR1B (K208E +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2936852	NM_001203.3(BMPR1B):c.1384-6C>T	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2936359	NM_001203.3(BMPR1B):c.1498A>G (p.Ile500Val)	BMPR1B (I530V +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2936323	NM_001203.3(BMPR1B):c.527T>C (p.Leu176Pro)	BMPR1B (L176P +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2935953	NM_001203.3(BMPR1B):c.585+10_585+12del	BMPR1B	Microsatellite (intron variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2935353	NM_001203.3(BMPR1B):c.291A>G (p.Thr97=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2933517	NM_001203.3(BMPR1B):c.534C>T (p.Asp178=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2933021	NM_001203.3(BMPR1B):c.496G>A (p.Asp166Asn)	BMPR1B (D166N +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2932291	NM_001203.3(BMPR1B):c.543G>A (p.Glu181=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2930837	NM_001203.3(BMPR1B):c.1101A>T (p.Pro367=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2929873	NM_001203.3(BMPR1B):c.74C>A (p.Pro25His)	BMPR1B (P25H +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2928147	NM_001203.3(BMPR1B):c.1097T>C (p.Ile366Thr)	BMPR1B (I366T +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2928086	NM_001203.3(BMPR1B):c.842A>G (p.Tyr281Cys)	BMPR1B (Y281C +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2927246	NM_001203.3(BMPR1B):c.507C>T (p.Tyr169=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2927199	NM_001203.3(BMPR1B):c.1012A>G (p.Ile338Val)	BMPR1B (I338V +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2926996	NM_001203.3(BMPR1B):c.899C>T (p.Ser300Leu)	BMPR1B (S300L +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2926975	NM_001203.3(BMPR1B):c.1367G>T (p.Arg456Leu)	BMPR1B (R456L +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2926927	NM_001203.3(BMPR1B):c.321C>T (p.His107=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2926869	NM_001203.3(BMPR1B):c.402_405del (p.Cys135fs)	BMPR1B (C165fs +1 more)	Microsatellite (frameshift variant)	Type A2 brachydactyly +1 more	GPathogenic
Select item 2924902	NM_001203.3(BMPR1B):c.503C>G (p.Thr168Ser)	BMPR1B (T198S +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2924611	NM_001203.3(BMPR1B):c.524C>T (p.Ser175Phe)	BMPR1B (S175F +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2924303	NM_001203.3(BMPR1B):c.464C>G (p.Thr155Ser)	BMPR1B (T185S +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2923173	NM_001203.3(BMPR1B):c.556T>A (p.Ser186Thr)	BMPR1B (S216T +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2923088	NM_001203.3(BMPR1B):c.778+17A>C	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2921762	NM_001203.3(BMPR1B):c.585+1G>C	BMPR1B	Single nucleotide variant (splice donor variant)	Type A2 brachydactyly +1 more	GLikely pathogenic
Select item 2685982	GRCh37/hg19 4q22.3(chr4:95975469-96181200)x3	BMPR1B, UNC5C	Copy number gain	not provided	GUncertain significance
Select item 2685120	GRCh37/hg19 4q22.3(chr4:96076813-97410812)x1	BMPR1B, PDHA2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2634875	NM_001203.3(BMPR1B):c.272G>T (p.Arg91Ile)	BMPR1B (R121I +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +2 more	GUncertain significance
Select item 2618745	NM_001203.3(BMPR1B):c.360T>G (p.Asp120Glu)	BMPR1B (D120E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617340	NM_001203.3(BMPR1B):c.1471C>T (p.Leu491Phe)	BMPR1B (L521F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 2555653	NM_001203.3(BMPR1B):c.428T>C (p.Ile143Thr)	BMPR1B (I173T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525247	NM_001203.3(BMPR1B):c.509T>G (p.Ile170Ser)	BMPR1B (I170S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514384	NM_001203.3(BMPR1B):c.991C>G (p.Arg331Gly)	BMPR1B (R331G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504599	NM_001203.3(BMPR1B):c.-17-52823C>T	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3	GUncertain significance
Select item 2504598	NM_001203.3(BMPR1B):c.1252+410A>G	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3	GUncertain significance
Select item 2493445	NM_001203.3(BMPR1B):c.88T>G (p.Leu30Val)	BMPR1B (L30V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474619	NM_001203.3(BMPR1B):c.1090G>A (p.Val364Ile)	BMPR1B (V364I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439538	NM_001203.3(BMPR1B):c.746A>G (p.Gln249Arg)	BMPR1B (Q249R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338263	NM_001203.3(BMPR1B):c.38C>T (p.Thr13Ile)	BMPR1B (T43I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280614	NM_001203.3(BMPR1B):c.1096A>T (p.Ile366Leu)	BMPR1B (I396L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278650	NM_001203.3(BMPR1B):c.1501A>G (p.Lys501Glu)	BMPR1B (K501E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253874	NM_001203.3(BMPR1B):c.736G>A (p.Glu246Lys)	BMPR1B (E246K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230970	NM_001203.3(BMPR1B):c.1396A>T (p.Met466Leu)	BMPR1B (M466L +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +2 more	GUncertain significance
Select item 2205369	NM_001203.3(BMPR1B):c.581T>A (p.Leu194Gln)	BMPR1B (L194Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2200684	NM_001203.3(BMPR1B):c.411G>A (p.Leu137=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2193170	NM_001203.3(BMPR1B):c.1238G>C (p.Arg413Thr)	BMPR1B (R443T +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2171652	NM_001203.3(BMPR1B):c.247-3T>C	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2159711	NM_001203.3(BMPR1B):c.1228G>T (p.Val410Phe)	BMPR1B (V410F +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 2148166	NM_001203.3(BMPR1B):c.62C>T (p.Thr21Ile)	BMPR1B (T51I +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 2142200	NM_001203.3(BMPR1B):c.616A>G (p.Met206Val)	BMPR1B (M236V +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GUncertain significance
Select item 2142198	NM_001203.3(BMPR1B):c.786T>A (p.Ile262=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2134544	NM_001203.3(BMPR1B):c.419T>G (p.Val140Gly)	BMPR1B (V140G +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2079400	NM_001203.3(BMPR1B):c.573C>A (p.Gly191=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2078870	NM_001203.3(BMPR1B):c.875A>G (p.Lys292Arg)	BMPR1B (K322R +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2066922	NM_001203.3(BMPR1B):c.585+18C>A	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2064902	NM_001203.3(BMPR1B):c.77G>A (p.Arg26His)	BMPR1B (R26H +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2059485	NM_001203.3(BMPR1B):c.247G>A (p.Asp83Asn)	BMPR1B (D113N +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2055357	NM_001203.3(BMPR1B):c.85G>T (p.Val29Phe)	BMPR1B (V29F +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2048766	NM_001203.3(BMPR1B):c.1394A>G (p.Gln465Arg)	BMPR1B (Q465R +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GConflicting classifications of pathogenicity
Select item 2047250	NM_001203.3(BMPR1B):c.464C>A (p.Thr155Asn)	BMPR1B (T155N +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2046596	NM_001203.3(BMPR1B):c.1190T>C (p.Met397Thr)	BMPR1B (M427T +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2039900	NM_001203.3(BMPR1B):c.928A>G (p.Ser310Gly)	BMPR1B (S310G +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 2030799	NM_001203.3(BMPR1B):c.474A>G (p.Arg158=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2028640	NM_001203.3(BMPR1B):c.1077-6C>G	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 2014299	NM_001203.3(BMPR1B):c.440A>G (p.Tyr147Cys)	BMPR1B (Y177C +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 1972181	NM_001203.3(BMPR1B):c.737A>C (p.Glu246Ala)	BMPR1B (E246A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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