ClinVar (all) for Orgtrack (Select 506437) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1255529	NM_002470.4(MYH3):c.4357-10G>A	LOC130060295, MYH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1065369	NM_002470.4(MYH3):c.5220_5223del (p.Ser1740fs)	MYH3 (S1740fs)	Deletion (frameshift variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065368	NM_002470.4(MYH3):c.4000del (p.Leu1334fs)	MYH3 (L1334fs)	Deletion (frameshift variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065367	NM_002470.4(MYH3):c.1002+1G>A	MYH3	Single nucleotide variant (splice donor variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065366	NM_002470.4(MYH3):c.5658+3_5658+6del	MYH3	Deletion (splice donor variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065365	NM_002470.4(MYH3):c.4244T>G (p.Leu1415Arg)	MYH3 (L1415R)	Single nucleotide variant (missense variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065364	NM_002470.4(MYH3):c.3062del (p.Ser1020_Leu1021insTer)	MYH3	Deletion (nonsense)	MYH3-related disorder	GLikely pathogenic
Select item 1065363	NM_002470.4(MYH3):c.3661_3663del (p.Glu1221del)	MYH3 (E1221del)	Deletion (inframe_deletion)	MYH3-related disorder	GLikely pathogenic
Select item 1065362	NM_002470.4(MYH3):c.1400A>C (p.Glu467Ala)	MYH3 (E467A)	Single nucleotide variant (missense variant)	MYH3-related disorder	GLikely pathogenic
Select item 1065361	NM_002470.4(MYH3):c.841G>A (p.Glu281Lys)	MYH3 (E281K)	Single nucleotide variant (missense variant)	MYH3-related disorder	GLikely pathogenic
Select item 1012281	NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn)	ROR2 (D672N)	Single nucleotide variant (missense variant)	Brachydactyly type B1 +2 more	GUncertain significance
Select item 1012280	NM_004560.4(ROR2):c.2236C>T (p.Leu746Phe)	ROR2 (L746F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012279	NM_004560.4(ROR2):c.769G>A (p.Glu257Lys)	ROR2 (E257K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1012278	NM_004560.4(ROR2):c.302C>T (p.Pro101Leu)	ROR2 (P101L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1012277	NM_004560.4(ROR2):c.553T>C (p.Phe185Leu)	ROR2 (F185L)	Single nucleotide variant (missense variant)	Short stature	GUncertain significance
Select item 1012276	NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln)	ROR2 (R706Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1012275	NM_004560.4(ROR2):c.1930G>A (p.Asp644Asn)	ROR2 (D644N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 998051	NM_001369268.1(ACAN):c.1120_1123del (p.Gln373_Thr374insTer)	ACAN	Deletion (nonsense)	Osteochondritis dissecans	GLikely pathogenic
Select item 998050	NM_000486.6(AQP2):c.3G>T (p.Met1Ile)	AQP2 (M1I)	Single nucleotide variant (missense variant +1 more)	Diabetes insipidus, nephrogenic, autosomal	GPathogenic
Select item 998049	NM_000515.5(GH1):c.131A>C (p.His44Pro)	GH-LCR, GH1 (H44P)	Single nucleotide variant (missense variant)	Autosomal dominant isolated somatotropin deficiency	GLikely pathogenic
Select item 998048	NM_000057.4(BLM):c.[1544dup;2468del]	BLM (N515fs +3 more)	Duplication (frameshift variant)	Bloom syndrome	GPathogenic
Select item 998047	NM_001042492.3(NF1):c.61-2A>C	NF1	Single nucleotide variant (splice acceptor variant)	Neurofibromatosis, type 1	GPathogenic
Select item 998046	NM_000306.4(POU1F1):c.212C>T (p.Ala71Val)	POU1F1 (A71V +1 more)	Single nucleotide variant (missense variant)	Pituitary hormone deficiency, combined, 1	GLikely pathogenic
Select item 998045	NM_000057.4(BLM):c.[2265_2268dup;2441T>A]	BLM (D382fs +3 more)	Duplication (frameshift variant +1 more)	Bloom syndrome	GPathogenic
Select item 998044	NM_000444.6(PHEX):c.613del (p.Arg205fs)	PHEX (R205fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 998043	NM_001042492.3(NF1):c.1639G>T (p.Glu547Ter)	NF1 (E547*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 998042	NM_000823.4(GHRHR):c.[1102C>T;481C>T]	GHRHR (R161W +1 more)	Single nucleotide variant (missense variant +1 more)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
Select item 998041	NM_203475.3(PORCN):c.49_80del (p.Cys17fs)	PORCN (C17fs)	Deletion (5 prime UTR variant +1 more)	Focal dermal hypoplasia	GPathogenic
Select item 998040	NM_001854.4(COL11A1):c.2508dup (p.Leu837fs)	COL11A1 (L721fs +3 more)	Duplication (frameshift variant +1 more)	Marshall syndrome	GLikely pathogenic
Select item 998039	NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter)	ANKRD11 (E1584*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 998038	NM_002755.4(MAP2K1):c.427A>G (p.Met143Val)	MAP2K1 (M143V)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 998037	NM_000095.3(COMP):c.1210G>A (p.Gly404Arg)	COMP (G404R)	Single nucleotide variant (missense variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	GLikely pathogenic
Select item 998036	NM_152564.5(VPS13B):c.[1044G>A;8916G>A]	VPS13B (W348* +2 more)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GPathogenic
Select item 998035	NM_015311.3(OBSL1):c.[1273dup;836G>A]	OBSL1 (T425fs +1 more)	Duplication (frameshift variant +1 more)	3M syndrome 2	GPathogenic
Select item 998034	NM_001844.5(COL2A1):c.1393G>A (p.Gly465Ser)	COL2A1 (G396S +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia	GLikely pathogenic
Select item 998033	NM_000512.5(GALNS):c.[1097T>C;451C>A]	GALNS (P151T +4 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 998032	NM_000124.4(ERCC6):c.[1727C>G;1834C>T]	ERCC6 (R612* +1 more)	Single nucleotide variant (nonsense +1 more)	Cerebrooculofacioskeletal syndrome 1	GPathogenic
Select item 998031	NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter)	GHRHR (W244*)	Single nucleotide variant (nonsense)	Isolated growth hormone deficiency, type 4	GLikely pathogenic
Select item 998030	NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter)	ARID1B (S1518* +3 more)	Single nucleotide variant (nonsense)	Coffin-Siris syndrome 1	GPathogenic
Select item 998029	NM_001080517.3(SETD5):c.1702_1703insT (p.Ser568fs)	SETD5 (S470fs +1 more)	Insertion (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 998028	NM_022455.5(NSD1):c.5509+1G>A	LOC126807619, NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome	GPathogenic
Select item 998027	NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter)	NPR2 (R767* +1 more)	Single nucleotide variant (nonsense)	Acromesomelic dysplasia 1, Maroteaux type +1 more	GPathogenic
Select item 998026	NM_001197104.2(KMT2A):c.8767_8768del (p.Gln2923fs)	KMT2A (Q2920fs +1 more)	Deletion (frameshift variant)	Wiedemann-Steiner syndrome	GPathogenic
Select item 998025	NM_000202.8(IDS):c.1259del (p.Pro420fs)	IDS (P330fs +1 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 998024	NM_006565.4(CTCF):c.329dup (p.Gly111fs)	CTCF (G111fs)	Duplication (intron variant +1 more)	Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	GPathogenic
Select item 998023	NM_003560.4(PLA2G6):c.[2356G>A;668C>A]	PLA2G6 (E554K +6 more)	Single nucleotide variant (missense variant +1 more)	Infantile neuroaxonal dystrophy	GPathogenic
Select item 998022	NM_004153.4(ORC1):c.[2483C>T;2484del]	ORC1 (C824fs +3 more)	Deletion (frameshift variant +1 more)	Meier-Gorlin syndrome 1	GLikely pathogenic
Select item 998021	NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro)	TMEM67 (S159P +1 more)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +1 more	GPathogenic
Select item 998020	NM_018136.5(ASPM):c.[1789C>T;2525_2531del]	ASPM (S842fs +1 more)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 998019	NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter)	SRCAP (E2397*)	Single nucleotide variant (nonsense)	Floating-Harbor syndrome	GPathogenic
Select item 998018	NM_014780.5(CUL7):c.[3129G>A;4763T>C]	CUL7 (L1587P +5 more)	Single nucleotide variant (missense variant +1 more)	3M syndrome 1	GPathogenic
Select item 998017	NM_000054.7(AVPR2):c.809_810del (p.Val270fs)	AVPR2 (V270fs)	Microsatellite (frameshift variant +1 more)	AVPR2-related disorder	GPathogenic
Select item 998016	NM_003849.4(SUCLG1):c.[460C>T;987dup]	SUCLG1 (A330fs +1 more)	Duplication (frameshift variant +1 more)	Mitochondrial DNA depletion syndrome 9	GPathogenic
Select item 998015	NM_014780.5(CUL7):c.[2164C>T;4911dup]	CUL7 (R722* +5 more)	Single nucleotide variant (nonsense)	3M syndrome 1	GPathogenic
Select item 998014	NM_024312.5(GNPTAB):c.[2715+1G>A;2980_2983del]	GNPTAB (A994fs)	Single nucleotide variant (splice donor variant +1 more)	Pseudo-Hurler polydystrophy	GPathogenic
Select item 998013	NM_001378183.1(PIEZO2):c.771G>A (p.Trp257Ter)	PIEZO2 (W257*)	Single nucleotide variant (nonsense)	Gordon syndrome	GLikely pathogenic
Select item 998012	NM_004260.4(RECQL4):c.[1724_1725del;691G>A]	RECQL4 (H575fs +1 more)	Microsatellite (frameshift variant +1 more)	Rothmund-Thomson syndrome type 2	GPathogenic
Select item 998011	NM_003982.4(SLC7A7):c.[1228C>T;1387del]	SLC7A7 (R410* +1 more)	Single nucleotide variant (nonsense +1 more)	Lysinuric protein intolerance	GPathogenic
Select item 998010	NM_153717.3(EVC):c.1465-1G>A	EVC	Single nucleotide variant (splice acceptor variant)	Curry-Hall syndrome	GLikely pathogenic
Select item 998009	NM_023110.3(FGFR1):c.2138T>C (p.Leu713Pro)	FGFR1 (L620P +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 998008	NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr)	ASXL1 (A215T)	Single nucleotide variant (intron variant +1 more)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 998007	NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro)	CUL7 (L1587P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 998006	NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter)	ASXL1 (Q220*)	Single nucleotide variant (intron variant +1 more)	Bohring-Opitz syndrome	GLikely pathogenic
Select item 998005	NM_015365.3(AMMECR1):c.805C>T (p.Gln269Ter)	AMMECR1 (Q146* +2 more)	Single nucleotide variant (nonsense)	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis	GLikely pathogenic
Select item 998004	NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)	POU1F1 (R217* +1 more)	Single nucleotide variant (nonsense)	Pituitary hormone deficiency, combined, 1 +1 more	GPathogenic
Select item 998003	NM_000057.4(BLM):c.[289C>T;649C>T]	BLM (Q97* +1 more)	Single nucleotide variant (nonsense +1 more)	Bloom syndrome	GPathogenic
Select item 998002	NM_000441.2(SLC26A4):c.[2168A>G;2326C>G]	LOC123956210, SLC26A4 (H723R +1 more)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
Select item 998001	NM_000875.5(IGF1R):c.1732G>A (p.Ala578Thr)	IGF1R (A578T)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 998000	NM_002427.4(MMP13):c.223T>C (p.Phe75Leu)	LOC126861318, MMP13 (F75L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type	GLikely pathogenic
Select item 997999	NM_004560.4(ROR2):c.2625dup (p.Thr876fs)	ROR2 (T876fs)	Duplication (frameshift variant)	Brachydactyly type B1 +1 more	GConflicting classifications of pathogenicity
Select item 997998	NM_003995.4(NPR2):c.1249C>A (p.Gln417Lys)	NPR2 (Q417K)	Single nucleotide variant (missense variant)	Short stature with nonspecific skeletal abnormalities	GLikely pathogenic
Select item 997997	NM_003611.3(OFD1):c.2289dup (p.Ser764fs)	OFD1 (S624fs +2 more)	Duplication (frameshift variant)	Orofaciodigital syndrome I	GPathogenic
Select item 997996	NM_001369268.1(ACAN):c.1861A>T (p.Lys621Ter)	ACAN (K621*)	Single nucleotide variant (nonsense)	Osteochondritis dissecans	GPathogenic
Select item 997995	NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter)	TRPS1 (Q19* +3 more)	Single nucleotide variant (nonsense)	Trichorhinophalangeal dysplasia type I	GLikely pathogenic
Select item 997994	NM_001369268.1(ACAN):c.1880_1883dup (p.Asp629fs)	ACAN (D629fs)	Microsatellite (frameshift variant)	Osteochondritis dissecans	GPathogenic
Select item 997993	NM_001011658.4(TRAPPC2):c.324+1G>T	OFD1, TRAPPC2	Single nucleotide variant (splice donor variant)	Spondyloepiphyseal dysplasia tarda	GLikely pathogenic
Select item 997992	NM_000493.4(COL10A1):c.1843T>G (p.Tyr615Asp)	COL10A1, NT5DC1 (Y615D)	Single nucleotide variant (missense variant +1 more)	Metaphyseal chondrodysplasia, Schmid type	GLikely pathogenic
Select item 997991	NM_001844.5(COL2A1):c.2860G>A (p.Gly954Ser)	COL2A1 (G885S +1 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia congenita	GLikely pathogenic
Select item 966483	NM_001042492.3(NF1):c.7194C>G (p.Tyr2398Ter)	NF1 (Y2377* +1 more)	Single nucleotide variant (nonsense)	Juvenile myelomonocytic leukemia +1 more	GPathogenic
Select item 840661	NM_012448.4(STAT5B):c.1102del (p.Gln368fs)	STAT5B (Q368fs)	Deletion (frameshift variant)	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	GPathogenic
Select item 807400	NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr)	COMP (D385Y)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GPathogenic
Select item 694414	NM_004608.4(TBX6):c.418C>T (p.Leu140Phe)	TBX6 (L140F)	Single nucleotide variant (missense variant)	Scoliosis	GPathogenic
Select item 694413	NM_004608.4(TBX6):c.1133G>A (p.Arg378His)	TBX6 (R378H)	Single nucleotide variant (missense variant)	Scoliosis +1 more	GConflicting classifications of pathogenicity
Select item 694412	NM_004608.4(TBX6):c.1300C>T (p.Pro434Ser)	TBX6 (P434S)	Single nucleotide variant (missense variant)	Scoliosis	GUncertain significance
Select item 694411	NM_004608.4(TBX6):c.1184G>A (p.Gly395Asp)	TBX6 (G395D)	Single nucleotide variant (missense variant)	Scoliosis +1 more	GUncertain significance
Select item 694410	NM_004608.4(TBX6):c.1112C>T (p.Pro371Leu)	TBX6 (P371L)	Single nucleotide variant (missense variant)	Scoliosis +1 more	GUncertain significance
Select item 694409	NM_004608.4(TBX6):c.929C>T (p.Pro310Leu)	TBX6 (P310L)	Single nucleotide variant (missense variant)	Scoliosis	GUncertain significance
Select item 694408	NM_004608.4(TBX6):c.700G>C (p.Gly234Arg)	TBX6 (G234R)	Single nucleotide variant (missense variant)	Scoliosis	GUncertain significance
Select item 694407	NM_004608.4(TBX6):c.499C>T (p.Arg167Cys)	TBX6 (R167C)	Single nucleotide variant (missense variant)	Scoliosis	GUncertain significance
Select item 694406	NM_004608.4(TBX6):c.473_475dup (p.Trp158_Glu159insGly)	TBX6	Duplication (inframe_insertion)	Scoliosis	GPathogenic
Select item 694405	NM_004608.4(TBX6):c.440A>T (p.Asp147Val)	TBX6 (D147V)	Single nucleotide variant (missense variant)	Scoliosis	GUncertain significance
Select item 694404	NM_004608.4(TBX6):c.424G>T (p.Asp142Tyr)	TBX6 (D142Y)	Single nucleotide variant (missense variant)	Scoliosis	GLikely pathogenic
Select item 694403	NM_004608.4(TBX6):c.356G>A (p.Arg119His)	TBX6 (R119H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 667457	NM_000138.5(FBN1):c.2613A>C (p.Leu871Phe)	FBN1 (L871F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 667456	NM_000138.5(FBN1):c.6825C>G (p.Ile2275Met)	FBN1 (I2275M)	Single nucleotide variant (missense variant)	Isolated thoracic aortic aneurysm	GUncertain significance
Select item 667455	NM_000138.5(FBN1):c.1571C>A (p.Thr524Lys)	FBN1 (T524K)	Single nucleotide variant (missense variant)	Congenital scoliosis	GUncertain significance
Select item 667454	NM_000138.5(FBN1):c.284C>G (p.Ser95Trp)	FBN1 (S95W)	Single nucleotide variant (missense variant)	Congenital scoliosis	GUncertain significance
Select item 667453	NM_000138.5(FBN1):c.1456G>T (p.Gly486Trp)	FBN1 (G486W)	Single nucleotide variant (missense variant)	Congenital scoliosis	GUncertain significance
Select item 667452	NM_000138.5(FBN1):c.6440G>A (p.Gly2147Asp)	FBN1 (G2147D)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 667451	NM_000138.5(FBN1):c.3437T>G (p.Leu1146Arg)	FBN1 (L1146R)	Single nucleotide variant (missense variant)	Congenital scoliosis	GUncertain significance

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