micromelia cystopteroides - ClinVar

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Items: 92

The following term was not found in ClinVar: cystopteroides.
Showing results for Microlepia cystopteroides. Your search for Microlepia cystopteroides retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1076160	NM_000478.6(ALPL):c.532T>C (p.Tyr178His)	ALPL (Y101H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1707479	NM_000478.6(ALPL):c.648+5G>C	ALPL	Single nucleotide variant (intron variant)	Micromelia	GUncertain significance
Select item 1128	NM_015139.3(SLC35D1):c.533+730_637-1766del	SLC35D1	Deletion (splice acceptor variant +1 more)	Schneckenbecken dysplasia	GPathogenic
Select item 1129	NM_015139.3(SLC35D1):c.193A>C (p.Thr65Pro)	SLC35D1 (T65P)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GPathogenic
Select item 154731	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1	ACP6, BCL9 +49 more	Copy number loss	See cases	GPathogenic
Select item 443124	GRCh37/hg19 2q21.1(chr2:131477746-131993678)x3	AMER3, ARHGEF4 +4 more	Copy number gain	See cases	GUncertain significance
Select item 442915	GRCh37/hg19 2p22.3(chr2:34593934-34964255)x1		Copy number loss	See cases	GUncertain significance
Select item 4949	NM_006371.5(CRTAP):c.471+1G>C	CRTAP	Single nucleotide variant (splice donor variant)	Osteogenesis imperfecta type 7	GPathogenic
Select item 948374	NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)	IFT122 (A1004P +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1684285	NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)	FGFR3 (P62S)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +14 more	GUncertain significance
Select item 978772	NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala)	FGFR3 (G67A)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia type 1 +1 more	GUncertain significance
Select item 546226	NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)	FGFR3 (G67D)	Single nucleotide variant (missense variant +1 more)	not provided +14 more	GConflicting classifications of pathogenicity
Select item 16358	NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu)	FGFR3 (S84L)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +9 more	GPathogenic/Likely pathogenic
Select item 196220	NM_000142.5(FGFR3):c.348C>T (p.Arg116=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +16 more	GBenign/Likely benign
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +31 more	GPathogenic
Select item 16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3 (S249C)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +17 more	GPathogenic OOncogenic
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Unilateral renal agenesis +26 more	GPathogenic/Likely pathogenic
Select item 16359	NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)	FGFR3 (G370C +1 more)	Single nucleotide variant (missense variant +2 more)	Thanatophoric dysplasia type 1 +3 more	GPathogenic OOncogenic
Select item 16333	NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys)	FGFR3 (S371C +1 more)	Single nucleotide variant (missense variant +2 more)	Thanatophoric dysplasia type 1 +2 more	GPathogenic
Select item 16342	NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	FGFR3 (Y373C +1 more)	Single nucleotide variant (missense variant +2 more)	Thanatophoric dysplasia type 1 +1 more	GPathogenic
Select item 16330	NM_000142.5(FGFR3):c.1123G>T (p.Gly375Cys)	FGFR3 (G375C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 441276	NM_000142.4(FGFR3):c.[1130T>G;1138G>A]	FGFR3 (G380R +3 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia	GPathogenic
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	Connective tissue disorder +18 more	GPathogenic/Likely pathogenic
Select item 134404	NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)	FGFR3 (F384L +1 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +16 more	GBenign/Likely benign
Select item 1309951	NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe)	FGFR3 (L419F +1 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +14 more	GUncertain significance
Select item 1680065	NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu)	FGFR3 (V311L +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +15 more	GUncertain significance
Select item 633464	NM_000142.5(FGFR3):c.1519G>A (p.Val507Met)	FGFR3 (V395M +3 more)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia type 1	GUncertain significance
Select item 1310646	NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly)	FGFR3 (D404G +3 more)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome-acanthosis nigricans syndrome +14 more	GUncertain significance
Select item 16349	NM_000142.5(FGFR3):c.1619A>G (p.Asn540Ser)	FGFR3 (N540S +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental delay +3 more	GPathogenic
Select item 441277	NM_000142.4(FGFR3):c.[1454A>G;1620C>A]	FGFR3 (N540K +7 more)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia type 1	GPathogenic
Select item 16338	NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	FGFR3 (N540K +3 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +18 more	GPathogenic/Likely pathogenic
Select item 1691355	NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)	FGFR3 (P461L +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +14 more	GUncertain significance
Select item 1680106	NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +15 more	GConflicting classifications of pathogenicity
Select item 132959	NM_000142.5(FGFR3):c.1935C>T (p.Leu645=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +14 more	GBenign/Likely benign
Select item 1680111	NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg)	FGFR3 (K537R +3 more)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +14 more	GUncertain significance
Select item 16331	NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)	FGFR3 (K650E +3 more)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia type 1 +3 more	GPathogenic
Select item 65855	NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)	FGFR3 (K650T +3 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +15 more	GPathogenic
Select item 16341	NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)	FGFR3 (K650M +3 more)	Single nucleotide variant (missense variant +1 more)	Hypochondroplasia +14 more	GPathogenic
Select item 16347	NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)	FGFR3 (K650N +3 more)	Single nucleotide variant (missense variant +1 more)	Hypochondroplasia +14 more	GPathogenic/Likely pathogenic
Select item 1065490	NM_000142.5(FGFR3):c.1954A>G (p.Thr652Ala)	FGFR3 (T540A +3 more)	Single nucleotide variant (missense variant +1 more)	Thanatophoric dysplasia type 1	GPathogenic
Select item 1680115	NM_000142.5(FGFR3):c.1959+15G>C	FGFR3	Single nucleotide variant (intron variant)	not provided +14 more	GBenign/Likely benign
Select item 465349	NM_000142.5(FGFR3):c.1960-7C>T	FGFR3	Single nucleotide variant (intron variant)	not provided +14 more	GBenign/Likely benign
Select item 465350	NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser)	FGFR3 (A667S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +14 more	GUncertain significance
Select item 521225	NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)	FGFR3 (N718S +3 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +15 more	GConflicting classifications of pathogenicity
Select item 651478	NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp)	FGFR3 (A782V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +15 more	GUncertain significance
Select item 65561	NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg)	FGFR3 (V784A)	Single nucleotide variant (stop lost +2 more)	Thanatophoric dysplasia	GLikely pathogenic
Select item 16335	NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)	FGFR3 (V784E)	Single nucleotide variant (stop lost +2 more)	Achondroplasia +14 more	GPathogenic
Select item 16334	NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)	FGFR3 (V784G)	Single nucleotide variant (stop lost +2 more)	not provided	GPathogenic
Select item 65562	NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)	FGFR3	Single nucleotide variant (stop lost +2 more)	not provided +14 more	GPathogenic
Select item 65564	NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp)	FGFR3 (K785E)	Single nucleotide variant (stop lost +2 more)	Achondroplasia +2 more	GPathogenic/Likely pathogenic
Select item 65563	NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys)	FGFR3 (K785Q)	Single nucleotide variant (stop lost +2 more)	not provided	GPathogenic
Select item 16336	NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys)	FGFR3 (K785*)	Single nucleotide variant (stop lost +2 more)	FGFR3-related disorder	GPathogenic
Select item 804171	NM_153717.3(EVC):c.758C>G (p.Ser253Ter)	EVC (S253*)	Single nucleotide variant (nonsense)	Ellis-van Creveld syndrome	GPathogenic
Select item 804172	NM_153717.3(EVC):c.2376del (p.Tyr793fs)	EVC (Y793fs)	Deletion (frameshift variant)	Ellis-van Creveld syndrome	GPathogenic
Select item 623256	NM_001029998.6(SLC10A7):c.388G>A (p.Gly130Arg)	SLC10A7 (G130R +1 more)	Single nucleotide variant (missense variant +2 more)	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	GPathogenic
Select item 2142	NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs)	NIPBL (A2436fs)	Duplication (frameshift variant)	Cornelia de Lange syndrome 1	GPathogenic
Select item 442549	GRCh37/hg19 5p15.2(chr5:12407106-12833857)x1	LINC01194	Copy number loss	See cases	GUncertain significance
Select item 155113	GRCh38/hg38 6p24.3-24.2(chr6:10542021-10810835)x1	C6orf52, GCNT2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 441863	GRCh37/hg19 6q13(chr6:74803480-75476247)x3		Copy number gain	See cases	GUncertain significance
Select item 520980	NM_000089.4(COL1A2):c.1208G>A (p.Gly403Asp)	COL1A2 (G403D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 810396	NM_018946.4(NANS):c.1A>G (p.Met1Val)	LOC130002203, NANS +1 more (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1162207	NM_014694.4(ADAMTSL2):c.2737+1G>T	ADAMTSL2	Single nucleotide variant (splice donor variant)	Geleophysic dysplasia 1	GLikely pathogenic
Select item 217560	NM_001286577.2(C2CD3):c.5267G>A (p.Gly1756Glu)	C2CD3 (G1756E)	Single nucleotide variant (missense variant)	Familial aplasia of the vermis +1 more	GConflicting classifications of pathogenicity
Select item 418738	NM_001286577.2(C2CD3):c.5227G>T (p.Gly1743Cys)	C2CD3 (G1743C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 442035	GRCh37/hg19 11q14.1(chr11:84005323-84315291)x1	DLG2	Copy number loss	See cases	GUncertain significance
Select item 501233	NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp)	COL2A1 (G1050D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 521492	NM_001844.5(COL2A1):c.2789G>A (p.Gly930Asp)	COL2A1 (G930D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1338764	NM_004239.4(TRIP11):c.1107_1108dup (p.Thr370fs)	TRIP11 (T369fs +1 more)	Duplication (frameshift variant)	Achondrogenesis, type IA	GLikely pathogenic
Select item 1338763	NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter)	TRIP11 (R175* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis, type IA	GPathogenic
Select item 425618	NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)	COL1A1 (G1076S)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 811940	NM_000088.4(COL1A1):c.2110G>A (p.Gly704Ser)	COL1A1 (G704S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal +3 more	GPathogenic
Select item 31013	NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)	CANT1 (S303fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155712	GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1	ADAMTS1, ADAMTS5 +56 more	Copy number loss	See cases	GUncertain significance
Select item 1451531	NM_017613.4(DONSON):c.1563+1del	DONSON	Deletion (splice donor variant)	not provided	GPathogenic
Select item 587636	NM_017613.4(DONSON):c.1563+1G>T	DONSON	Single nucleotide variant (splice donor variant)	Microcephaly, short stature, and limb abnormalities +1 more	GPathogenic
Select item 431445	NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)	DONSON (K489T)	Single nucleotide variant (missense variant)	Microcephaly-micromelia syndrome +7 more	GConflicting classifications of pathogenicity
Select item 431417	NM_017613.3(DONSON):c.[1466A>C;786-33A>G82A>C]	DONSON (K489T +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly, short stature, and limb abnormalities	GPathogenic
Select item 1410377	NM_017613.4(DONSON):c.1433C>T (p.Pro478Leu)	DONSON (P478L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 431419	NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)	DONSON (Q428*)	Single nucleotide variant (nonsense)	Microcephaly, short stature, and limb abnormalities +2 more	GPathogenic/Likely pathogenic
Select item 521608	NM_017613.4(DONSON):c.1254dup (p.Lys419Ter)	DONSON (K419*)	Duplication (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 431414	NM_017613.4(DONSON):c.1047-9A>G	DONSON	Single nucleotide variant (intron variant)	Microcephaly-micromelia syndrome +2 more	GPathogenic
Select item 1687665	NM_017613.4(DONSON):c.877C>T (p.Arg293Ter)	DONSON (R293*)	Single nucleotide variant (nonsense)	DONSON-related disorder +1 more	GPathogenic
Select item 431420	NM_017613.4(DONSON):c.876C>G (p.Phe292Leu)	DONSON (F292L)	Single nucleotide variant (missense variant)	Microcephaly, short stature, and limb abnormalities	GLikely pathogenic
Select item 431416	NM_017613.4(DONSON):c.786-22A>G	DONSON	Single nucleotide variant (intron variant)	Microcephaly-micromelia syndrome	GConflicting classifications of pathogenicity
Select item 1012222	NM_017613.4(DONSON):c.670C>T (p.Pro224Ser)	DONSON (P224S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 431446	NM_017613.4(DONSON):c.82A>C (p.Ser28Arg)	DONSON (S28R)	Single nucleotide variant (missense variant)	Microcephaly-micromelia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 155162	GRCh38/hg38 22q11.21(chr22:18339130-21111370)x3	LOC130066971, LOC130066972 +185 more	Copy number gain	See cases	GPathogenic
Select item 153204	GRCh38/hg38 Xq21.1(chrX:77799457-77890125)x3	MAGT1	Copy number gain	See cases	Gconflicting data from submitters
Select item 585009	NM_017613.3(DONSON):c.[1466A>C];[536_540delCACAG]			Microcephaly, short stature, and limb abnormalities	GLikely pathogenic
Select item 14924	NM_005529.7(HSPG2):c.8464G>A (p.Ala2822Thr)	HSPG2 (A2822T +1 more)	Single nucleotide variant	Schwartz-Jampel syndrome type 1	GPathogenic

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Items: 92