"Color Diagnostics, LLC DBA Color Health"[submitter] AND "BMPR1A"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 246071	NM_004329.3(BMPR1A):c.-20G>A	BMPR1A	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 925360	NM_004329.3(BMPR1A):c.-14A>C	BMPR1A	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 506301	NM_004329.3(BMPR1A):c.-14A>G	BMPR1A	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 801056	NM_004329.3(BMPR1A):c.-10C>T	BMPR1A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 377565	NM_004329.3(BMPR1A):c.-8A>G	BMPR1A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 511690	NM_004329.3(BMPR1A):c.-6T>C	BMPR1A	Single nucleotide variant (5 prime UTR variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 489679	NM_004329.3(BMPR1A):c.-3A>G	BMPR1A	Single nucleotide variant (5 prime UTR variant)	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 429102	NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu)	BMPR1A (M1L)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 41782	NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr)	BMPR1A (P2T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 2025109	NM_004329.3(BMPR1A):c.5C>G (p.Pro2Arg)	BMPR1A (P2R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 182062	NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu)	BMPR1A (P2L)	Single nucleotide variant (missense variant)	Generalized juvenile polyposis/juvenile polyposis coli +3 more	GConflicting classifications of pathogenicity
Select item 489702	NM_004329.3(BMPR1A):c.8A>C (p.Gln3Pro)	BMPR1A (Q3P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 957917	NM_004329.3(BMPR1A):c.9G>C (p.Gln3His)	BMPR1A (Q3H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 215828	NM_004329.3(BMPR1A):c.12A>G (p.Leu4=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +2 more	GLikely benign
Select item 490987	NM_004329.3(BMPR1A):c.19T>C (p.Tyr7His)	BMPR1A (Y7H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 920197	NM_004329.3(BMPR1A):c.20A>T (p.Tyr7Phe)	BMPR1A (Y7F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 216580	NM_004329.3(BMPR1A):c.22A>G (p.Ile8Val)	BMPR1A (I8V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 490988	NM_004329.3(BMPR1A):c.24C>T (p.Ile8=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 629152	NM_004329.3(BMPR1A):c.25A>C (p.Arg9=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 383960	NM_004329.3(BMPR1A):c.27A>G (p.Arg9=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 220588	NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)	BMPR1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 239861	NM_004329.3(BMPR1A):c.37G>A (p.Ala13Thr)	BMPR1A (A13T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 490995	NM_004329.3(BMPR1A):c.39C>T (p.Ala13=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 491002	NM_004329.3(BMPR1A):c.43T>C (p.Leu15=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 1172388	NM_004329.3(BMPR1A):c.45G>C (p.Leu15Phe)	BMPR1A (L15F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 231113	NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu)	BMPR1A (I17L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 928208	NM_004329.3(BMPR1A):c.56C>T (p.Ser19Phe)	BMPR1A (S19F)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 460507	NM_004329.3(BMPR1A):c.58C>T (p.Arg20Cys)	BMPR1A (R20C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 220321	NM_004329.3(BMPR1A):c.59G>A (p.Arg20His)	BMPR1A (R20H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 188214	NM_004329.3(BMPR1A):c.66A>C (p.Gln22His)	BMPR1A (Q22H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 927918	NM_004329.3(BMPR1A):c.67+10T>C	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 491008	NM_004329.3(BMPR1A):c.67+15A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 489699	NM_004329.3(BMPR1A):c.68-20A>G	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 926934	NM_004329.3(BMPR1A):c.68-19A>T	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 383804	NM_004329.3(BMPR1A):c.68-18T>C	BMPR1A	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 491012	NM_004329.3(BMPR1A):c.68-14A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 627813	NM_004329.3(BMPR1A):c.68-13T>C	BMPR1A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 491011	NM_004329.3(BMPR1A):c.68-12A>G	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1331776	NM_004329.3(BMPR1A):c.71A>T (p.Gln24Leu)	BMPR1A (Q24L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 918991	NM_004329.3(BMPR1A):c.71A>G (p.Gln24Arg)	BMPR1A (Q24R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 411645	NM_004329.3(BMPR1A):c.74A>G (p.Asn25Ser)	BMPR1A (N25S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1332098	NM_004329.3(BMPR1A):c.82A>G (p.Ser28Gly)	BMPR1A (S28G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 216584	NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn)	BMPR1A (S28N)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1765413	NM_004329.3(BMPR1A):c.89T>C (p.Leu30Pro)	BMPR1A (L2P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 489701	NM_004329.3(BMPR1A):c.89T>G (p.Leu30Arg)	BMPR1A (L30R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 640801	NM_004329.3(BMPR1A):c.92A>C (p.His31Pro)	BMPR1A (H31P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 411643	NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg)	BMPR1A (G32R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +3 more	GConflicting classifications of pathogenicity
Select item 460519	NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala)	BMPR1A (T33A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 411623	NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)	BMPR1A (T33S)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +4 more	GConflicting classifications of pathogenicity
Select item 655397	NM_004329.3(BMPR1A):c.100G>A (p.Gly34Arg)	BMPR1A (G34R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 1016290	NM_004329.3(BMPR1A):c.103A>G (p.Met35Val)	BMPR1A (M35V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 628488	NM_004329.3(BMPR1A):c.105G>T (p.Met35Ile)	BMPR1A (M35I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 630965	NM_004329.3(BMPR1A):c.107A>C (p.Lys36Thr)	BMPR1A (K36T)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 489682	NM_004329.3(BMPR1A):c.112G>C (p.Asp38His)	BMPR1A (D38H)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 482856	NM_004329.3(BMPR1A):c.114C>G (p.Asp38Glu)	BMPR1A (D38E)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 489683	NM_004329.3(BMPR1A):c.116C>A (p.Ser39Tyr)	BMPR1A (S39Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 230945	NM_004329.3(BMPR1A):c.116C>T (p.Ser39Phe)	BMPR1A (S39F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 460476	NM_004329.3(BMPR1A):c.117C>T (p.Ser39=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +3 more	GLikely benign
Select item 239853	NM_004329.3(BMPR1A):c.117C>G (p.Ser39=)	BMPR1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 141179	NM_004329.3(BMPR1A):c.118G>A (p.Asp40Asn)	BMPR1A (D40N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 411634	NM_004329.3(BMPR1A):c.119A>C (p.Asp40Ala)	BMPR1A (D40A)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 919477	NM_004329.3(BMPR1A):c.120C>A (p.Asp40Glu)	BMPR1A (D40E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186702	NM_004329.3(BMPR1A):c.124A>G (p.Lys42Glu)	BMPR1A (K42E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 482848	NM_004329.3(BMPR1A):c.126A>G (p.Lys42=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 482871	NM_004329.3(BMPR1A):c.132A>C (p.Ser44=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 575664	NM_004329.3(BMPR1A):c.134A>G (p.Glu45Gly)	BMPR1A (E45G)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 419865	NM_004329.3(BMPR1A):c.140G>T (p.Gly47Val)	BMPR1A (G47V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 186884	NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu)	BMPR1A (G47E)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 482855	NM_004329.3(BMPR1A):c.148T>C (p.Leu50=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +2 more	GLikely benign
Select item 489691	NM_004329.3(BMPR1A):c.157G>A (p.Glu53Lys)	BMPR1A (E53K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1018429	NM_004329.3(BMPR1A):c.160G>A (p.Asp54Asn)	BMPR1A (D54N)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 529950	NM_004329.3(BMPR1A):c.161A>T (p.Asp54Val)	BMPR1A (D54V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 371995	NM_004329.3(BMPR1A):c.170C>G (p.Pro57Arg)	BMPR1A (P57R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 922306	NM_004329.3(BMPR1A):c.173T>A (p.Phe58Tyr)	BMPR1A (F58Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 490985	NM_004329.3(BMPR1A):c.174T>C (p.Phe58=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 482845	NM_004329.3(BMPR1A):c.183C>T (p.Cys61=)	BMPR1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 411633	NM_004329.3(BMPR1A):c.185A>G (p.Tyr62Cys)	BMPR1A (Y62C)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 631320	NM_004329.3(BMPR1A):c.189C>A (p.Cys63Ter)	BMPR1A (C63*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 490986	NM_004329.3(BMPR1A):c.189C>T (p.Cys63=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 416805	NM_004329.3(BMPR1A):c.195G>A (p.Gly65=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 923151	NM_004329.3(BMPR1A):c.197A>G (p.His66Arg)	BMPR1A (H66R)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +1 more	GUncertain significance
Select item 136050	NM_004329.3(BMPR1A):c.198C>T (p.His66=)	BMPR1A	Single nucleotide variant (synonymous variant)	Juvenile polyposis syndrome +3 more	GBenign/Likely benign
Select item 918367	NM_004329.3(BMPR1A):c.201T>C (p.Cys67=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 422358	NM_004329.3(BMPR1A):c.214A>G (p.Ile72Val)	BMPR1A (I72V)	Single nucleotide variant (missense variant)	Juvenile polyposis syndrome +2 more	GUncertain significance
Select item 654710	NM_004329.3(BMPR1A):c.229A>C (p.Ile77Leu)	BMPR1A (I77L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 239859	NM_004329.3(BMPR1A):c.229A>G (p.Ile77Val)	BMPR1A (I77V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 411613	NM_004329.3(BMPR1A):c.230+3A>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 219851	NM_004329.3(BMPR1A):c.230+7A>G	BMPR1A	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 922330	NM_004329.3(BMPR1A):c.230+14G>T	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 926751	NM_004329.3(BMPR1A):c.230+17G>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 928221	NM_004329.3(BMPR1A):c.230+19C>A	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 420272	NM_004329.3(BMPR1A):c.231-10dup	BMPR1A	Duplication (intron variant)	Juvenile polyposis syndrome +2 more	GBenign/Likely benign
Select item 922856	NM_004329.3(BMPR1A):c.231-16T>C	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 629407	NM_004329.3(BMPR1A):c.231-16T>G	BMPR1A	Single nucleotide variant (intron variant)	Juvenile polyposis syndrome +1 more	GLikely benign
Select item 383568	NM_004329.3(BMPR1A):c.231-9C>T	BMPR1A	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 920845	NM_004329.3(BMPR1A):c.237T>C (p.Asn79=)	BMPR1A	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 460493	NM_004329.3(BMPR1A):c.241C>T (p.His81Tyr)	BMPR1A (H81Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 418631	NM_004329.3(BMPR1A):c.242A>G (p.His81Arg)	BMPR1A (H81R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 629273	NM_004329.3(BMPR1A):c.250G>A (p.Ala84Thr)	BMPR1A (A84T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance

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