ClinVar for MedGen (Select 11348) - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500273	NM_153365.3(TAPT1):c.323T>G (p.Leu108Trp)	TAPT1 (L108W)	Single nucleotide variant (missense variant)	Reduced bone mineral density +4 more	GUncertain significance
Select item 1697213	NM_001659.3(ARF3):c.379A>G (p.Lys127Glu)	ARF3 (K127E)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic
Select item 1697211	NM_001659.3(ARF3):c.200A>T (p.Asp67Val)	ARF3 (D67V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GPathogenic
Select item 1697208	NM_001659.3(ARF3):c.34C>G (p.Leu12Val)	ARF3 (L12V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GLikely pathogenic
Select item 1684631	Single allele	LINC01893, LOC126862798 +279 more	Deletion	Pulmonary valve stenosis +10 more	GPathogenic
Select item 1684630	NC_000017.11:g.8117792_8126946del	ALOXE3, HES7 +14 more	Deletion (genic upstream transcript variant)	Thoracic kyphoscoliosis +29 more	GPathogenic
Select item 1683711	NM_001378183.1(PIEZO2):c.64+1G>A	PIEZO2	Single nucleotide variant (splice donor variant)	Congenital ichthyosiform erythroderma +3 more	GLikely pathogenic
Select item 1683520	NM_005087.4(FXR1):c.80C>G (p.Ser27Cys)	FXR1 (S27C)	Single nucleotide variant (missense variant +1 more)	Delayed gross motor development +2 more	GUncertain significance
Select item 1047887	GRCh37/hg19 17p12(chr17:14100118-15455297)	CDRT15, CDRT4 +6 more	Copy number gain	Positional foot deformity +1 more	GPathogenic
Select item 996015	NM_018840.5(RAB5IF):c.75G>A (p.Trp25Ter)	LOC130065793, RAB5IF +1 more (W25*)	Single nucleotide variant (nonsense +2 more)	Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 +11 more	GPathogenic/Likely pathogenic
Select item 978559	NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs)	FBN1 (Q1253fs)	Deletion (frameshift variant)	Pes planus +8 more	GPathogenic
Select item 932283	NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)	JAG1 (R1169Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 804288	NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	HARS1 (I351L +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +13 more	GConflicting classifications of pathogenicity
Select item 804287	NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)	HARS1	Duplication (inframe_insertion)	Cerebellar ataxia +11 more	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)	not provided +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)	not provided +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)	Scoliosis +1 more	GConflicting classifications of pathogenicity
Select item 691885	NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)	EFEMP1 (Y205*)	Single nucleotide variant (nonsense)	Generalized hypotonia +13 more	GPathogenic
Select item 691884	NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)	EFEMP1 (M107fs)	Deletion (frameshift variant)	Generalized hypotonia +13 more	GPathogenic
Select item 684727	NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	CTSK (W302*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 684430	NM_005045.4(RELN):c.7456A>G (p.Ser2486Gly)	RELN (S2486G)	Single nucleotide variant (missense variant)	Arthritis, sacroiliac +8 more	GPathogenic
Select item 638595	NM_001099271.2(POC5):c.1363G>C (p.Ala455Pro)	POC5 (A455P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598976	NM_004115.4(FGF14):c.486dup (p.Arg163fs)	FGF14 (R116fs +8 more)	Duplication (frameshift variant)	Cleft palate +17 more	GLikely pathogenic
Select item 598963	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	TMCO1 (R206* +2 more)	Single nucleotide variant (nonsense +1 more)	See cases +21 more	GPathogenic/Likely pathogenic
Select item 548021	NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter)	CHRNG (R68*)	Single nucleotide variant (nonsense)	Scoliosis +5 more	GPathogenic/Likely pathogenic
Select item 523663	NM_005593.3(MYF5):c.23_32del (p.Gln8fs)	MYF5 (Q8fs)	Deletion (frameshift variant)	Ophthalmoplegia, external, with rib and vertebral anomalies +3 more	GPathogenic
Select item 523662	NM_005593.3(MYF5):c.283C>T (p.Arg95Cys)	MYF5 (R95C)	Single nucleotide variant (missense variant)	Ophthalmoplegia, external, with rib and vertebral anomalies +3 more	GPathogenic
Select item 523381	NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)	GRIN2B (M739R)	Single nucleotide variant (missense variant)	Abnormal facial shape +10 more	GLikely pathogenic
Select item 523327	NM_000093.5(COL5A1):c.5314G>A (p.Glu1772Lys)	COL5A1, LOC101448202 (E1772K)	Single nucleotide variant (missense variant)	Abnormality of the lower limb +7 more	GUncertain significance
Select item 523271	GRCh37/hg19 1q41(chr1:215829463-219225857)	ESRRG, SPATA17 +4 more	Copy number loss	Abnormal mitral valve morphology +4 more	GPathogenic
Select item 492841	NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His)	FLNA (R2041H +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type II +4 more	GUncertain significance
Select item 418996	NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs)	SLC9A6 (F350fs +3 more)	Deletion (frameshift variant)	Christianson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 374168	NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp)	RYR1 (R1179W)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 374114	NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)	COL2A1 (G639D +1 more)	Single nucleotide variant (missense variant)	Hypoplastic acetabulae +6 more	GLikely pathogenic
Select item 374090	NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)	CHD7 (Q2298*)	Single nucleotide variant (nonsense +1 more)	Dolichocephaly +5 more	GPathogenic
Select item 374003	NM_002055.5(GFAP):c.1046A>C (p.Tyr349Ser)	GFAP (Y349S)	Single nucleotide variant (missense variant)	Scoliosis	GLikely pathogenic
Select item 373981	NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile)	FBN1 (N2267I)	Single nucleotide variant (missense variant)	Dolichocephaly +6 more	GPathogenic
Select item 373975	NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)	NSDHL (L352V)	Single nucleotide variant (missense variant)	Child syndrome +1 more	GUncertain significance
Select item 373943	NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)	CREBBP (Q2082* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 279965	NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs)	TTN, TTN-AS1 (R32033fs +5 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 279823	NM_001365951.3(KIF1B):c.2115+6205C>T	KIF1B (R756W)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GUncertain significance
Select item 268011	46;XX;t(17;22)(q23;q12.2)dn		Translocation	Short metatarsal +10 more	GUncertain significance
Select item 267920	46;XY;t(6;20)(p12;q13.1)dn		Translocation	Ventricular septal defect +3 more	GUncertain significance
Select item 267862	46;XY;t(1;3)(p22;q21)dn		Translocation	Corpus callosum, agenesis of +24 more	GUncertain significance
Select item 267840	46;XY;t(15;17)(q24;q21.3)dn		Translocation	Increased overbite +9 more	GPathogenic
Select item 267824	46;XX;t(5;13)(q15;q32)dn		Translocation	Hypotonia +4 more	GUncertain significance
Select item 267820	46;XY;t(16;20)(q11.2;q13.2)dn		Translocation	Atrial septal defect +10 more	GUncertain significance
Select item 267819	46;X;inv(X)(q26q28)dn		Inversion	Obesity +12 more	GUncertain significance
Select item 267806	46;XX;ins(1;2)(p34.2;q22q24)dn		Translocation	Clinodactyly of the 5th finger +5 more	GUncertain significance
Select item 267803	46;X;t(X;10)(p11.2;q24.3)		Translocation	Clinodactyly +11 more	GUncertain significance
Select item 218934	t(12;19)(q24.21;q12)	MED13L	Translocation	Hypertelorism +13 more	GPathogenic
Select item 188056	NM_004608.4(TBX6):c.434C>T (p.Pro145Leu)	TBX6 (P145L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 183343	NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)	FAM120AOS (T248I +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa +8 more	GLikely pathogenic
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Connective tissue dysplasia +12 more	GPathogenic/Likely pathogenic
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Sotos syndrome +16 more	GPathogenic/Likely pathogenic
Select item 159315	NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)	NSD1 (W1280* +4 more)	Single nucleotide variant (nonsense)	Autism +19 more	GPathogenic
Select item 133012	NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	RYR1 (R3772Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenicFDA Recognized database
Select item 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	not provided +27 more	GConflicting classifications of pathogenicity
Select item 40554	NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	PTPN11 (R498L +2 more)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic
Select item 30591	NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)	GDF3 (R266C)	Single nucleotide variant (missense variant)	Scoliosis +5 more	GConflicting classifications of pathogenicity
Select item 18336	NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter)	CHRNG (Q5*)	Single nucleotide variant (nonsense)	Arthrogryposis-like hand anomaly +2 more	GLikely pathogenic
Select item 2485	NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)	SH3TC2 (Y169H)	Single nucleotide variant (missense variant)	not specified +13 more	GConflicting classifications of pathogenicity

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Items: 71