scyphularia dorsal - ClinVar - NCBI

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The following term was not found in ClinVar: scyphularia.
Showing results for Scyphularia dorsalis. Your search for Scyphularia dorsalis retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 57721	GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	C1orf167-AS1, AADACL3 +104 more	Copy number gain	See cases	GUncertain significance
Select item 2638237	NM_001127325.2(MAD2L2):c.-13+3286G>A	DRAXIN, MAD2L2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2305437	NM_198545.4(DRAXIN):c.152C>T (p.Thr51Met)	DRAXIN (T51M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594278	NM_198545.4(DRAXIN):c.172C>T (p.Arg58Cys)	DRAXIN (R58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638238	NM_198545.4(DRAXIN):c.178C>T (p.Arg60Trp)	DRAXIN (R60W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2371954	NM_198545.4(DRAXIN):c.179G>A (p.Arg60Gln)	DRAXIN (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773627	NM_198545.4(DRAXIN):c.192G>A (p.Lys64=)	DRAXIN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3273734	NM_198545.4(DRAXIN):c.215C>G (p.Pro72Arg)	DRAXIN (P72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211010	NM_198545.4(DRAXIN):c.329A>G (p.Asp110Gly)	DRAXIN (D110G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359836	NM_198545.4(DRAXIN):c.341G>T (p.Gly114Val)	DRAXIN (G114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398813	NM_198545.4(DRAXIN):c.361G>A (p.Glu121Lys)	DRAXIN (E121K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623693	NM_198545.4(DRAXIN):c.374G>A (p.Arg125Gln)	DRAXIN (R125Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528966	NM_198545.4(DRAXIN):c.403C>A (p.Arg135Ser)	DRAXIN (R135S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558835	NM_198545.4(DRAXIN):c.496G>C (p.Glu166Gln)	DRAXIN (E166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085714	NM_198545.4(DRAXIN):c.514G>C (p.Val172Leu)	DRAXIN (V172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367819	NM_198545.4(DRAXIN):c.556C>T (p.Pro186Ser)	DRAXIN (P186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791147	NM_198545.4(DRAXIN):c.664G>A (p.Gly222Arg)	DRAXIN (G222R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3085715	NM_198545.4(DRAXIN):c.767G>A (p.Arg256His)	DRAXIN (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411365	NM_198545.4(DRAXIN):c.769G>A (p.Gly257Ser)	DRAXIN (G257S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3085716	NM_198545.4(DRAXIN):c.812G>A (p.Gly271Glu)	DRAXIN (G271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085717	NM_198545.4(DRAXIN):c.844C>T (p.Pro282Ser)	DRAXIN (P282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085718	NM_198545.4(DRAXIN):c.895G>C (p.Gly299Arg)	DRAXIN (G299R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085720	NM_198545.4(DRAXIN):c.916G>A (p.Asp306Asn)	DRAXIN (D306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638239	NM_198545.4(DRAXIN):c.937+6T>A	DRAXIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2285146	NM_198545.4(DRAXIN):c.950A>G (p.Tyr317Cys)	DRAXIN (Y317C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 14926	NC_000001.11:g.21816592_21823699del	HSPG2, LDLRAD2	Deletion (splice acceptor variant +1 more)	Schwartz-Jampel syndrome type 1	GPathogenic
Select item 297458	NM_000374.5(UROD):c.-1C>T	LOC129930433, UROD	Single nucleotide variant (5 prime UTR variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 876315	NM_000374.5(UROD):c.21-12C>T	UROD	Single nucleotide variant (non-coding transcript variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 915319	NM_000374.5(UROD):c.21-1G>C	UROD	Single nucleotide variant (non-coding transcript variant +1 more)	Familial porphyria cutanea tarda	GPathogenic
Select item 874337	NM_000374.5(UROD):c.27G>C (p.Gln9His)	UROD (Q9H)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda +1 more	GUncertain significance
Select item 1683505	NM_000374.5(UROD):c.70T>G (p.Trp24Gly)	UROD (W24G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2575049	NM_000374.5(UROD):c.101G>A (p.Trp34Ter)	UROD (W34*)	Single nucleotide variant (nonsense +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 1325337	NM_000374.5(UROD):c.138T>A (p.Phe46Leu)	UROD (F46L)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 741478	NM_000374.5(UROD):c.158A>G (p.Gln53Arg)	UROD (Q53R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874338	NM_000374.5(UROD):c.240T>G (p.Ala80=)	UROD	Single nucleotide variant (synonymous variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 874339	NM_000374.5(UROD):c.383C>A (p.Ala128Asp)	UROD (A128D)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda +1 more	GUncertain significance
Select item 874340	NM_000374.5(UROD):c.390G>T (p.Glu130Asp)	UROD (E130D)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda +1 more	GUncertain significance
Select item 874341	NM_000374.5(UROD):c.442C>T (p.Arg148Cys)	UROD (R148C)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda +1 more	GUncertain significance
Select item 297459	NM_000374.5(UROD):c.450G>A (p.Pro150=)	UROD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 874342	NM_000374.5(UROD):c.463G>A (p.Ala155Thr)	UROD (A155T)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 297460	NM_000374.5(UROD):c.474+15G>C	UROD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 73	NM_000374.5(UROD):c.494T>G (p.Met165Arg)	UROD (M165R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 875264	NM_000374.5(UROD):c.561T>C (p.Ala187=)	UROD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875265	NM_000374.5(UROD):c.578G>A (p.Arg193His)	UROD (R193H)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 254172	NM_000374.5(UROD):c.578G>C (p.Arg193Pro)	UROD (R193P)	Single nucleotide variant (missense variant +1 more)	UROD-related disorder +1 more	GLikely pathogenic
Select item 1298341	NM_000374.5(UROD):c.583_611del (p.Leu195fs)	UROD (L195fs)	Deletion (frameshift variant +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 74	NM_000374.5(UROD):c.583C>T (p.Leu195Phe)	UROD (L195F)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GPathogenic
Select item 255961	NM_000374.5(UROD):c.603A>G (p.Pro201=)	UROD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1457336	NM_000374.5(UROD):c.616C>T (p.Gln206Ter)	UROD (Q206*)	Single nucleotide variant (nonsense +1 more)	Familial porphyria cutanea tarda +1 more	GPathogenic/Likely pathogenic
Select item 67	NM_000374.5(UROD):c.636+1G>C	UROD	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 875266	NM_000374.5(UROD):c.679C>G (p.Gln227Glu)	UROD (Q227E)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 297461	NM_000374.5(UROD):c.693G>A (p.Lys231=)	UROD	Single nucleotide variant (synonymous variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 2664811	NM_000374.5(UROD):c.725del (p.Lys242fs)	UROD (K242fs)	Deletion (frameshift variant +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 297462	NM_000374.5(UROD):c.738C>T (p.Ala246=)	UROD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875267	NM_000374.5(UROD):c.745C>T (p.Arg249Trp)	UROD (R249W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2690773	NM_000374.5(UROD):c.758dup (p.Ala254fs)	UROD (A254fs)	Duplication (frameshift variant +1 more)	Familial porphyria cutanea tarda	GLikely pathogenic
Select item 297463	NM_000374.5(UROD):c.758T>A (p.Leu253Gln)	UROD (L253Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876224	NM_000374.5(UROD):c.774+12G>A	UROD	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66	NM_000374.5(UROD):c.842G>A (p.Gly281Glu)	UROD (G281E)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 65	NM_000374.5(UROD):c.842G>T (p.Gly281Val)	UROD (G281V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 801474	NM_000374.5(UROD):c.904C>T (p.Gln302Ter)	UROD (Q302*)	Single nucleotide variant (nonsense +1 more)	Familial porphyria cutanea tarda	GPathogenic
Select item 75	NM_000374.5(UROD):c.912C>A (p.Asn304Lys)	UROD (N304K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 72	NM_000374.5(UROD):c.942G>A (p.Glu314=)	UROD	Single nucleotide variant (synonymous variant +1 more)	UROD-related disorder +1 more	GLikely pathogenic
Select item 876225	NM_000374.5(UROD):c.952G>A (p.Gly318Arg)	UROD (G318R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3235017	NM_000374.5(UROD):c.968A>G (p.Gln323Arg)	UROD (Q323R)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GUncertain significance
Select item 76	NM_000374.5(UROD):c.995G>A (p.Arg332His)	UROD (R332H)	Single nucleotide variant (missense variant +1 more)	Familial porphyria cutanea tarda	GConflicting classifications of pathogenicity
Select item 255960	NM_000374.5(UROD):c.*3G>A	UROD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 297464	NM_000374.5(UROD):c.*45C>T	UROD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 876226	NM_000374.5(UROD):c.*70G>A	UROD	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874571	NM_018122.5(DARS2):c.-543C>T	CENPL, DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 293811	NM_018122.5(DARS2):c.-533G>A	DARS2, CENPL	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 293812	NM_018122.5(DARS2):c.-522G>C	CENPL, DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 874572	NM_018122.5(DARS2):c.-488G>C	CENPL, DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 874573	NM_018122.5(DARS2):c.-219C>T	DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 874574	NM_018122.5(DARS2):c.-147A>G	DARS2	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 522973	NM_018122.5(DARS2):c.20T>A (p.Leu7Ter)	DARS2 (L7*)	Single nucleotide variant (nonsense)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GPathogenic
Select item 1033469	NM_018122.5(DARS2):c.57A>C (p.Arg19Ser)	DARS2 (R19S)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 3237491	NM_018122.5(DARS2):c.65C>T (p.Thr22Ile)	DARS2 (T22I)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 2584903	NM_018122.5(DARS2):c.86T>G (p.Leu29Arg)	DARS2 (L29R)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	GUncertain significance
Select item 1397631	NM_018122.5(DARS2):c.91A>G (p.Arg31Gly)	DARS2 (R31G)	Single nucleotide variant (missense variant)	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +2 more	GUncertain significance

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