1077[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
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 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 152297	GRCh38/hg38 4q22.3(chr4:94580110-95188656)x3	BMPR1B, BMPR1B-DT +3 more	Copy number gain	See cases	GLikely benign
Select item 149266	GRCh38/hg38 4q22.3(chr4:94616498-95446867)x3	BMPR1B, BMPR1B-DT +5 more	Copy number gain	See cases	GUncertain significance
Select item 904995	NM_001203.3(BMPR1B):c.-287C>G	BMPR1B	Single nucleotide variant (5 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 904996	NM_001203.3(BMPR1B):c.-198G>C	BMPR1B	Single nucleotide variant (5 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 904997	NM_001203.3(BMPR1B):c.-182G>A	BMPR1B	Single nucleotide variant (5 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 904998	NM_001203.3(BMPR1B):c.-167A>G	BMPR1B	Single nucleotide variant (5 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 906578	NM_001203.3(BMPR1B):c.-129A>G	BMPR1B	Single nucleotide variant (5 prime UTR variant)	Brachydactyly	GBenign
Select item 906579	NM_001203.3(BMPR1B):c.-117T>C	BMPR1B	Single nucleotide variant (5 prime UTR variant)	Brachydactyly	GBenign
Select item 144774	GRCh38/hg38 4q22.3(chr4:94901973-95207176)x1	BMPR1B, UNC5C	Copy number loss	See cases	GUncertain significance
Select item 906580	NM_001203.3(BMPR1B):c.-88C>G	BMPR1B	Single nucleotide variant (5 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 906581	NM_001203.3(BMPR1B):c.-18+1G>T	BMPR1B	Single nucleotide variant (5 prime UTR variant +1 more)	Brachydactyly	GLikely benign
Select item 1208314	NM_001203.3(BMPR1B):c.-17-53019G>A	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504599	NM_001203.3(BMPR1B):c.-17-52823C>T	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3	GUncertain significance
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 3035814	NM_001203.3(BMPR1B):c.-17-52674A>G	BMPR1B (H12R)	Single nucleotide variant (missense variant +1 more)	BMPR1B-related disorder	GBenign
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 1302826	NM_001203.3(BMPR1B):c.-17-52461_-17-52458del	BMPR1B	Deletion (intron variant)	not provided	GBenign
Select item 1213412	NM_001203.3(BMPR1B):c.-17-52463C>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175514	NM_001203.3(BMPR1B):c.-17-52353A>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246297	NM_001203.3(BMPR1B):c.-17-257T>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202241	NM_001203.3(BMPR1B):c.-17-137A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 906582	NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln)	BMPR1B (R34Q +1 more)	Single nucleotide variant (missense variant)	Idiopathic pulmonary arterial hypertension +4 more	GConflicting classifications of pathogenicity
Select item 1405714	NM_001203.3(BMPR1B):c.15T>G (p.Ser5Arg)	BMPR1B (S35R +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1043555	NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)	BMPR1B (A36T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1126554	NM_001203.3(BMPR1B):c.18A>G (p.Ala6=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1629430	NM_001203.3(BMPR1B):c.21A>G (p.Gly7=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 906583	NM_001203.3(BMPR1B):c.36C>T (p.Gly12=)	BMPR1B	Single nucleotide variant (synonymous variant)	Brachydactyly	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 1512018	NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)	BMPR1B (K15E +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GConflicting classifications of pathogenicity
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 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 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 387086	NM_001203.3(BMPR1B):c.70A>G (p.Thr24Ala)	BMPR1B (T24A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1298345	NM_001203.3(BMPR1B):c.71C>T (p.Thr24Ile)	BMPR1B (T24I +1 more)	Single nucleotide variant (missense variant)	Brachydactyly type A1D +1 more	GUncertain significance
Select item 741758	NM_001203.3(BMPR1B):c.72C>G (p.Thr24=)	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 1008542	NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg)	BMPR1B (P25R +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GBenign
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 1298963	NM_001203.3(BMPR1B):c.77G>C (p.Arg26Pro)	BMPR1B (R26P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522761	NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg)	BMPR1B (P27R +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 3 +2 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 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 217256	NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys)	BMPR1B (R31C +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3	GPathogenic
Select item 350113	NM_001203.3(BMPR1B):c.92G>A (p.Arg31His)	BMPR1B (R31H +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +2 more	GBenign/Likely benign
Select item 1678457	NM_001203.3(BMPR1B):c.103C>T (p.His35Tyr)	BMPR1B (H35Y +1 more)	Single nucleotide variant (missense variant)	not provided	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 730644	NM_001203.3(BMPR1B):c.143+9T>C	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290691	NM_001203.3(BMPR1B):c.144-74AC[13]	BMPR1B	Microsatellite (intron variant)	not provided	GBenign
Select item 1187776	NM_001203.3(BMPR1B):c.144-74AC[14]	BMPR1B	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1269249	NM_001203.3(BMPR1B):c.144-74AC[9]	BMPR1B	Microsatellite (intron variant)	not provided	GBenign
Select item 1631142	NM_001203.3(BMPR1B):c.144-17G>A	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 711567	NM_001203.3(BMPR1B):c.147A>G (p.Thr49=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 350114	NM_001203.3(BMPR1B):c.150C>T (p.Asp50=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +2 more	GLikely benign
Select item 217254	NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg)	BMPR1B (C53R +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3	GPathogenic
Select item 499897	NM_001203.3(BMPR1B):c.182A>C (p.Asp61Ala)	BMPR1B (D61A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742146	NM_001203.3(BMPR1B):c.183C>T (p.Asp61=)	BMPR1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1111041	NM_001203.3(BMPR1B):c.214C>T (p.Leu72=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1133408	NM_001203.3(BMPR1B):c.229T>G (p.Ser77Ala)	BMPR1B (S107A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 907599	NM_001203.3(BMPR1B):c.233A>G (p.Asp78Gly)	BMPR1B (D78G +1 more)	Single nucleotide variant (missense variant)	Brachydactyly	GUncertain significance
Select item 1679389	NM_001203.3(BMPR1B):c.244C>T (p.Arg82Trp)	BMPR1B (R112W +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3	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 2949916	NM_001203.3(BMPR1B):c.246+10A>T	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1243358	NM_001203.3(BMPR1B):c.246+103A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260012	NM_001203.3(BMPR1B):c.247-336C>A	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189702	NM_001203.3(BMPR1B):c.247-145A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179983	NM_001203.3(BMPR1B):c.247-143A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 350115	NM_001203.3(BMPR1B):c.247-9C>T	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3 +2 more	GBenign/Likely benign
Select item 283921	NM_001203.3(BMPR1B):c.247-4A>G	BMPR1B	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 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 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 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 663972	NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)	BMPR1B (T114I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 1967709	NM_001203.3(BMPR1B):c.280G>A (p.Glu94Lys)	BMPR1B (E124K +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GLikely benign
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 285442	NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala)	BMPR1B (T97A +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GConflicting classifications of pathogenicity
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 532702	NM_001203.3(BMPR1B):c.300C>T (p.Asn100=)	BMPR1B	Single nucleotide variant (synonymous variant)	Brachydactyly +2 more	GBenign/Likely benign
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 1010451	NM_001203.3(BMPR1B):c.334C>T (p.Pro112Ser)	BMPR1B (P112S +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 1556229	NM_001203.3(BMPR1B):c.349+18C>G	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 1243117	NM_001203.3(BMPR1B):c.350-149A>T	BMPR1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1005167	NM_001203.3(BMPR1B):c.358G>A (p.Asp120Asn)	BMPR1B (D120N +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 6557	NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs)	BMPR1B (G151fs +1 more)	Deletion (frameshift variant)	Acromesomelic dysplasia 3	GPathogenic
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 1483774	NM_001203.3(BMPR1B):c.370C>T (p.His124Tyr)	BMPR1B (H154Y +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +1 more	GUncertain significance
Select item 1011960	NM_001203.3(BMPR1B):c.391T>A (p.Ser131Thr)	BMPR1B (S131T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 907600	NM_001203.3(BMPR1B):c.395T>G (p.Val132Gly)	BMPR1B (V162G +1 more)	Single nucleotide variant (missense variant)	Brachydactyly	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 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 218545	NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile)	BMPR1B (V140I +1 more)	Single nucleotide variant (missense variant)	Brachydactyly +4 more	GBenign/Likely 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 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

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