C0221357[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334425	NM_002181.4(IHH):c.*623dup	IHH	Duplication (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 369330	NM_002181.4(IHH):c.-58C>T	IHH	Single nucleotide variant (5 prime UTR variant)	Brachydactyly +1 more	GLikely benign
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 +1 more	GBenign
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 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 906583	NM_001203.3(BMPR1B):c.36C>T (p.Gly12=)	BMPR1B	Single nucleotide variant (synonymous variant)	Brachydactyly	GUncertain significance
Select item 350113	NM_001203.3(BMPR1B):c.92G>A (p.Arg31His)	BMPR1B (R31H +1 more)	Single nucleotide variant (missense variant)	Brachydactyly +2 more	GBenign/Likely benign
Select item 350114	NM_001203.3(BMPR1B):c.150C>T (p.Asp50=)	BMPR1B	Single nucleotide variant (synonymous variant)	Brachydactyly +2 more	GLikely benign
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 350115	NM_001203.3(BMPR1B):c.247-9C>T	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +2 more	GBenign/Likely benign
Select item 532702	NM_001203.3(BMPR1B):c.300C>T (p.Asn100=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +2 more	GBenign/Likely benign
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 218545	NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile)	BMPR1B (V140I +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 350116	NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp)	BMPR1B (R149W +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related condition +4 more	GBenign
Select item 907601	NM_001203.3(BMPR1B):c.482T>G (p.Ile161Ser)	BMPR1B (I161S +1 more)	Single nucleotide variant (missense variant)	Brachydactyly	GUncertain significance
Select item 907602	NM_001203.3(BMPR1B):c.490G>A (p.Glu164Lys)	BMPR1B (E164K +1 more)	Single nucleotide variant (missense variant)	Brachydactyly	GUncertain significance
Select item 904270	NM_001203.3(BMPR1B):c.581T>C (p.Leu194Pro)	BMPR1B (L224P +1 more)	Single nucleotide variant (missense variant)	Brachydactyly	GUncertain significance
Select item 350117	NM_001203.3(BMPR1B):c.671G>A (p.Arg224His)	BMPR1B (R224H +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related condition +4 more	GConflicting classifications of pathogenicity
Select item 350118	NM_001203.3(BMPR1B):c.705C>T (p.Thr235=)	BMPR1B	Single nucleotide variant (synonymous variant)	Brachydactyly +2 more	GBenign
Select item 350119	NM_001203.3(BMPR1B):c.728G>A (p.Arg243Lys)	BMPR1B (R243K +1 more)	Single nucleotide variant (missense variant)	Brachydactyly	GUncertain significance
Select item 350120	NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser)	BMPR1B (R254S +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +3 more	GConflicting classifications of pathogenicity
Select item 904271	NM_001203.3(BMPR1B):c.790G>A (p.Ala264Thr)	BMPR1B (A264T +1 more)	Single nucleotide variant (missense variant)	Brachydactyly	GUncertain significance
Select item 350121	NM_001203.3(BMPR1B):c.891C>T (p.Asp297=)	BMPR1B	Single nucleotide variant (synonymous variant)	Brachydactyly +2 more	GBenign
Select item 350122	NM_001203.3(BMPR1B):c.1065T>A (p.Val355=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +2 more	GBenign/Likely benign
Select item 350123	NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser)	BMPR1B (P368S +1 more)	Single nucleotide variant (missense variant)	Brachydactyly +2 more	GBenign
Select item 350124	NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp)	BMPR1B (N369D +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related condition +3 more	GConflicting classifications of pathogenicity
Select item 350125	NM_001203.3(BMPR1B):c.1112G>T (p.Arg371Leu)	BMPR1B (R371L +1 more)	Single nucleotide variant (missense variant)	Brachydactyly +2 more	GBenign/Likely benign
Select item 905062	NM_001203.3(BMPR1B):c.1234A>G (p.Arg412Gly)	BMPR1B (R442G +1 more)	Single nucleotide variant (missense variant)	Brachydactyly +2 more	GUncertain significance
Select item 350126	NM_001203.3(BMPR1B):c.1384-8T>C	BMPR1B	Single nucleotide variant (intron variant)	Brachydactyly +3 more	GBenign/Likely benign
Select item 703948	NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=)	BMPR1B	Single nucleotide variant (synonymous variant)	Brachydactyly +2 more	GBenign
Select item 287875	NM_001203.3(BMPR1B):c.*9G>C	BMPR1B	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GLikely benign
Select item 350127	NM_001203.3(BMPR1B):c.*49C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 905063	NM_001203.3(BMPR1B):c.*83C>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350128	NM_001203.3(BMPR1B):c.*109G>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350129	NM_001203.3(BMPR1B):c.*126G>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350130	NM_001203.3(BMPR1B):c.*133C>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 906648	NM_001203.3(BMPR1B):c.*139C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350131	NM_001203.3(BMPR1B):c.*141C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly +3 more	GBenign
Select item 350132	NM_001203.3(BMPR1B):c.*195C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 350133	NM_001203.3(BMPR1B):c.*196A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 907674	NM_001203.3(BMPR1B):c.*221C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350134	NM_001203.3(BMPR1B):c.*245T>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 907675	NM_001203.3(BMPR1B):c.*283G>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350135	NM_001203.3(BMPR1B):c.*302dup	BMPR1B	Duplication (3 prime UTR variant)	Brachydactyly +1 more	GConflicting classifications of pathogenicity
Select item 350136	NM_001203.3(BMPR1B):c.*391C>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350137	NM_001203.3(BMPR1B):c.*413G>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GLikely benign
Select item 350138	NM_001203.3(BMPR1B):c.*487G>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 907676	NM_001203.3(BMPR1B):c.*524C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350139	NM_001203.3(BMPR1B):c.*633A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350140	NM_001203.3(BMPR1B):c.*641C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 904343	NM_001203.3(BMPR1B):c.*744C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350141	NM_001203.3(BMPR1B):c.*762T>C	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350142	NM_001203.3(BMPR1B):c.*790A>C	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350145	NM_001203.3(BMPR1B):c.833_834dup	BMPR1B	Duplication (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350144	NM_001203.3(BMPR1B):c.825_834del	BMPR1B	Deletion (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350143	NM_001203.3(BMPR1B):c.824_834del	BMPR1B	Deletion (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 904344	NM_001203.3(BMPR1B):c.*828T>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 904345	NM_001203.3(BMPR1B):c.*834T>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350146	NM_001203.3(BMPR1B):c.*860T>C	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350147	NM_001203.3(BMPR1B):c.*989A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350148	NM_001203.3(BMPR1B):c.*1013C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GLikely benign
Select item 905142	NM_001203.3(BMPR1B):c.*1065T>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350149	NM_001203.3(BMPR1B):c.*1113G>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350150	NM_001203.3(BMPR1B):c.*1157A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 905143	NM_001203.3(BMPR1B):c.*1203A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350151	NM_001203.3(BMPR1B):c.*1361G>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 905144	NM_001203.3(BMPR1B):c.*1371A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 906723	NM_001203.3(BMPR1B):c.*1375A>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350152	NM_001203.3(BMPR1B):c.*1559A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350153	NM_001203.3(BMPR1B):c.*1576G>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 906724	NM_001203.3(BMPR1B):c.*1637T>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 906725	NM_001203.3(BMPR1B):c.*1660T>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 906726	NM_001203.3(BMPR1B):c.*1661A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 906727	NM_001203.3(BMPR1B):c.*1792C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 907734	NM_001203.3(BMPR1B):c.*1800G>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 907735	NM_001203.3(BMPR1B):c.*1831A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350154	NM_001203.3(BMPR1B):c.*1899A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350155	NM_001203.3(BMPR1B):c.*1971C>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350156	NM_001203.3(BMPR1B):c.*1972C>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350157	NM_001203.3(BMPR1B):c.*2125G>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 907736	NM_001203.3(BMPR1B):c.*2156C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350158	NM_001203.3(BMPR1B):c.*2166C>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350159	NM_001203.3(BMPR1B):c.*2216C>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350160	NM_001203.3(BMPR1B):c.*2217T>C	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350161	NM_001203.3(BMPR1B):c.*2221A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 904406	NM_001203.3(BMPR1B):c.*2225A>C	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 904407	NM_001203.3(BMPR1B):c.*2228A>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350162	NM_001203.3(BMPR1B):c.2229_2232del	BMPR1B	Deletion (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350163	NM_001203.3(BMPR1B):c.*2230G>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350164	NM_001203.3(BMPR1B):c.*2257C>G	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350165	NM_001203.3(BMPR1B):c.*2302G>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 905205	NM_001203.3(BMPR1B):c.*2307C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GUncertain significance
Select item 350166	NM_001203.3(BMPR1B):c.*2332T>A	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign
Select item 350167	NM_001203.3(BMPR1B):c.*2350C>T	BMPR1B	Single nucleotide variant (3 prime UTR variant)	Brachydactyly	GBenign

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