ClinVar for MedGen (Select 318690) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 193

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065565	NM_001200.4(BMP2):c.231del (p.Tyr78fs)	BMP2 (Y78fs)	Deletion (frameshift variant)	Type A2 brachydactyly	GUncertain significance
Select item 3065504	NM_001256793.2:c.-131339_868+386del	BMPR1B	Deletion	Type A2 brachydactyly	GLikely pathogenic
Select item 2954307	NM_001203.3(BMPR1B):c.1393C>T (p.Gln465Ter)	BMPR1B (Q465* +1 more)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2949916	NM_001203.3(BMPR1B):c.246+10A>T	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2948384	NM_001203.3(BMPR1B):c.1365C>T (p.Asn455=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 2948220	NM_001203.3(BMPR1B):c.886C>T (p.Leu296=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 2947513	NM_001203.3(BMPR1B):c.1347A>G (p.Leu449=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2945775	NM_001203.3(BMPR1B):c.586-19G>A	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 2945613	NM_001203.3(BMPR1B):c.906G>C (p.Leu302=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +1 more	GBenign
Select item 2943740	NM_001203.3(BMPR1B):c.621_622delinsCC (p.Lys208Gln)	BMPR1B (K208Q +1 more)	Indel (missense variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2936852	NM_001203.3(BMPR1B):c.1384-6C>T	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2935953	NM_001203.3(BMPR1B):c.585+10_585+12del	BMPR1B	Microsatellite (intron variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2935353	NM_001203.3(BMPR1B):c.291A>G (p.Thr97=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 2933517	NM_001203.3(BMPR1B):c.534C>T (p.Asp178=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2932291	NM_001203.3(BMPR1B):c.543G>A (p.Glu181=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 2930837	NM_001203.3(BMPR1B):c.1101A>T (p.Pro367=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +2 more	GUncertain significance
Select item 2926996	NM_001203.3(BMPR1B):c.899C>T (p.Ser300Leu)	BMPR1B (S300L +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2926927	NM_001203.3(BMPR1B):c.321C>T (p.His107=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 2926869	NM_001203.3(BMPR1B):c.402_405del (p.Cys135fs)	BMPR1B (C165fs +1 more)	Microsatellite (frameshift variant)	Acromesomelic dysplasia 3 +1 more	GPathogenic
Select item 2924902	NM_001203.3(BMPR1B):c.503C>G (p.Thr168Ser)	BMPR1B (T198S +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2923088	NM_001203.3(BMPR1B):c.778+17A>C	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 2921762	NM_001203.3(BMPR1B):c.585+1G>C	BMPR1B	Single nucleotide variant (splice donor variant)	Acromesomelic dysplasia 3 +1 more	GLikely pathogenic
Select item 2634875	NM_001203.3(BMPR1B):c.272G>T (p.Arg91Ile)	BMPR1B (R121I +1 more)	Single nucleotide variant (missense variant)	BMPR1B-related condition +2 more	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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2171652	NM_001203.3(BMPR1B):c.247-3T>C	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3 +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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2142198	NM_001203.3(BMPR1B):c.786T>A (p.Ile262=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 2066922	NM_001203.3(BMPR1B):c.585+18C>A	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +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)	Type A2 brachydactyly +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 +1 more	GLikely benign
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)	Type A2 brachydactyly +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)	Acromesomelic dysplasia 3 +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)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 1967709	NM_001203.3(BMPR1B):c.280G>A (p.Glu94Lys)	BMPR1B (E124K +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 1962214	NM_001203.3(BMPR1B):c.997C>G (p.Leu333Val)	BMPR1B (L363V +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 1950070	NM_001203.3(BMPR1B):c.1171C>T (p.His391Tyr)	BMPR1B (H421Y +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 1934797	NM_001203.3(BMPR1B):c.790G>T (p.Ala264Ser)	BMPR1B (A264S +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 1929410	NM_001203.3(BMPR1B):c.979G>A (p.Ala327Thr)	BMPR1B (A357T +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 1921558	NM_001203.3(BMPR1B):c.1093G>A (p.Asp365Asn)	BMPR1B (D365N +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +2 more	GUncertain significance
Select item 1919397	NM_001203.3(BMPR1B):c.1023G>C (p.Lys341Asn)	BMPR1B (K341N +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 1914196	NM_001203.3(BMPR1B):c.1239A>T (p.Arg413Ser)	BMPR1B (R413S +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 1903369	NM_001203.3(BMPR1B):c.1385G>T (p.Cys462Phe)	BMPR1B (C462F +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GUncertain significance
Select item 1897977	NM_001203.3(BMPR1B):c.1400G>C (p.Gly467Ala)	BMPR1B (G467A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1657508	NM_001203.3(BMPR1B):c.1076+20A>G	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
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 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 1622077	NM_001203.3(BMPR1B):c.523T>C (p.Ser175Pro)	BMPR1B (S175P +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GLikely benign
Select item 1617327	NM_001203.3(BMPR1B):c.586-18T>G	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GBenign
Select item 1617147	NM_001203.3(BMPR1B):c.778+17A>G	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1614387	NM_001203.3(BMPR1B):c.705C>G (p.Thr235=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1611545	NM_001203.3(BMPR1B):c.1152C>T (p.Asp384=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1607183	NM_001203.3(BMPR1B):c.1076+18C>T	BMPR1B	Single nucleotide variant (intron variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1598293	NM_001203.3(BMPR1B):c.1035T>A (p.Thr345=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1589840	NM_001203.3(BMPR1B):c.1353C>A (p.Pro451=)	BMPR1B	Single nucleotide variant (synonymous variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 1573509	NM_001203.3(BMPR1B):c.779-15C>G	BMPR1B	Single nucleotide variant (intron variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 1571548	NM_001203.3(BMPR1B):c.1082C>A (p.Thr361Lys)	BMPR1B (T361K +1 more)	Single nucleotide variant (missense variant)	Acromesomelic dysplasia 3 +1 more	GLikely benign
Select item 1569866	NM_001203.3(BMPR1B):c.779-6T>C	BMPR1B	Single nucleotide variant (intron 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)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1551029	NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)	BMPR1B (K299R +1 more)	Single nucleotide variant (missense variant)	Type A2 brachydactyly +2 more	GConflicting classifications of pathogenicity
Select item 1540031	NM_001203.3(BMPR1B):c.1323G>A (p.Arg441=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign
Select item 1539545	NM_001203.3(BMPR1B):c.897A>G (p.Lys299=)	BMPR1B	Single nucleotide variant (synonymous variant)	Type A2 brachydactyly +1 more	GLikely benign

<< First< Prev

Page of 2