panicle OR spike OR ear - ClinVar - NCBI

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The following term was not found in ClinVar: panicle.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1012228	NM_022834.5(VWA1):c.905G>A (p.Arg302Gln)	VWA1 (R302Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 153267	GRCh38/hg38 1p36.32(chr1:2688448-3286320)x3	ACTRT2, LOC110120751 +15 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 1064760	NM_015102.5(NPHP4):c.3498G>T (p.Glu1166Asp)	NPHP4 (E1166D +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4	GUncertain significance
Select item 1064761	NM_015102.5(NPHP4):c.673+5G>T	NPHP4	Single nucleotide variant (intron variant)	Senior-Loken syndrome 4	GUncertain significance
Select item 4419	NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs)	ESPN (K642fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 36	GPathogenic
Select item 560535	NM_031475.3(ESPN):c.2369_2386del (p.Arg790_Arg795del)	ESPN	Deletion (inframe_deletion)	Usher syndrome type 1	GPathogenic
Select item 468905	NM_020631.6(PLEKHG5):c.2233C>A (p.Pro745Thr)	PLEKHG5 (P745T +2 more)	Single nucleotide variant (missense variant)	Neuronopathy, distal hereditary motor, autosomal recessive 4 +1 more	GUncertain significance
Select item 972996	NM_015215.4(CAMTA1):c.1A>G (p.Met1Val)	CAMTA1, LOC129929266 (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 418456	NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3])	RERE	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart +1 more	GPathogenic
Select item 871051	NM_022787.4(NMNAT1):c.634G>A (p.Val212Met)	NMNAT1 (V212M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 9 +1 more	GConflicting classifications of pathogenicity
Select item 14369	NM_000302.3(PLOD1):c.1756_1902del	PLOD1	Deletion	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GPathogenic
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 2584937	NM_172369.5(C1QC):c.644AGG[1] (p.Glu216del)	C1QC (E216del +1 more)	Microsatellite (inframe_deletion)	C1Q deficiency	GUncertain significance
Select item 521301	NM_000975.5(RPL11):c.224G>A (p.Arg75Gln)	RPL11 (R75Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 212148	NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	SELENON (A139T +1 more)	Single nucleotide variant (missense variant)	SEPN1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 30709	NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)	DHDDS (K42E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 1018485	NM_205861.3(DHDDS):c.476G>A (p.Arg159His)	DHDDS (R120H +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 59	GUncertain significance
Select item 1065735	NM_205861.3(DHDDS):c.681C>G (p.Phe227Leu)	DHDDS (F134L +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 59	GUncertain significance
Select item 1686935	NM_001990.4(EYA3):c.1073A>G (p.Asn358Ser)	EYA3 (N305S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 929454	NM_017629.4(AGO4):c.241C>T (p.Gln81Ter)	AGO4 (Q81*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2585614	NM_006516.4(SLC2A1):c.1337T>A (p.Ile446Asn)	SLC2A1 (I446N)	Single nucleotide variant (missense variant)	Dystonia 9	GUncertain significance
Select item 37301	NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)	SLC2A1 (R232C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1173067	NM_001190818.1(ORC1):c.2392-249_*3804del	ORC1	Deletion	Meier-Gorlin syndrome 1	GPathogenic
Select item 297574	NM_004153.4(ORC1):c.*231C>T	ORC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297575	NM_004153.4(ORC1):c.*226G>C	ORC1	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297576	NM_004153.4(ORC1):c.*94C>T	ORC1	Single nucleotide variant (3 prime UTR variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 703217	NM_004153.4(ORC1):c.2580C>T (p.Asp860=)	ORC1	Single nucleotide variant (synonymous variant)	ORC1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 873948	NM_004153.4(ORC1):c.2570C>T (p.Ala857Val)	ORC1 (A852V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 873949	NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp)	ORC1 (R846W +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
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 129860	NM_004153.4(ORC1):c.2447T>C (p.Met816Thr)	ORC1 (M816T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 873950	NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu)	ORC1 (P807L +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 129859	NM_004153.4(ORC1):c.2427G>A (p.Glu809=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 874893	NM_004153.4(ORC1):c.2418C>T (p.Cys806=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297577	NM_004153.4(ORC1):c.2404C>T (p.His802Tyr)	ORC1 (H802Y +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297578	NM_004153.4(ORC1):c.2382G>A (p.Thr794=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 297579	NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)	ORC1 (V772I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 874894	NM_004153.4(ORC1):c.2303+10T>C	ORC1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 436112	NM_004153.4(ORC1):c.2226C>A (p.Ser742=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1 +2 more	GBenign/Likely benign
Select item 632110	NM_004153.4(ORC1):c.2221_2224dup (p.Ser742Ter)	ORC1 (S737* +1 more)	Duplication (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 702027	NM_004153.4(ORC1):c.2162G>A (p.Arg721Gln)	ORC1 (R716Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 30233	NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)	ORC1 (R720Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 30234	NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs)	ORC1 (V662fs +1 more)	Indel (frameshift variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 30236	NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)	ORC1 (R666W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638448	NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile)	ORC1 (T655I +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 1173052	NM_004153.4(ORC1):c.1865T>C (p.Leu622Pro)	ORC1 (L617P +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 297580	NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala)	ORC1 (T607A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 723109	NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg)	ORC1 (Q577R +1 more)	Single nucleotide variant (missense variant)	ORC1-related disorder +2 more	GBenign/Likely benign
Select item 703005	NM_004153.4(ORC1):c.1707T>C (p.Asn569=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 297581	NM_004153.4(ORC1):c.1671C>T (p.Ala557=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 875829	NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys)	ORC1 (R544C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 297582	NM_004153.4(ORC1):c.1584-4C>G	ORC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1028196	NM_004153.4(ORC1):c.1582G>A (p.Gly528Arg)	ORC1 (G523R +1 more)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 129852	NM_004153.4(ORC1):c.1581A>G (p.Gly527=)	ORC1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 30235	NM_004153.4(ORC1):c.1482-2A>G	ORC1	Single nucleotide variant (splice acceptor variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 875830	NM_004153.4(ORC1):c.1466A>T (p.Glu489Val)	ORC1 (E484V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 297583	NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln)	ORC1 (R477Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 129857	NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr)	ORC1 (C469Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 732313	NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg)	ORC1 (C469R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 129856	NM_004153.4(ORC1):c.1397C>T (p.Thr466Met)	ORC1 (T466M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 876821	NM_004153.4(ORC1):c.1383T>C (p.Ser461=)	ORC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 211798	NM_004153.4(ORC1):c.1318T>C (p.Ser440Pro)	ORC1 (S440P)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 297584	NM_004153.4(ORC1):c.1284A>C (p.Thr428=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 876822	NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp)	ORC1 (G399D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 211797	NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp)	ORC1 (R396W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 297585	NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu)	ORC1 (R380L)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 129854	NM_004153.4(ORC1):c.1115C>T (p.Ala372Val)	ORC1 (A372V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 874010	NM_004153.4(ORC1):c.1025G>T (p.Gly342Val)	ORC1 (G342V)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 1034053	NM_004153.4(ORC1):c.934C>T (p.Pro312Ser)	ORC1 (P312S)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 874011	NM_004153.4(ORC1):c.911C>T (p.Thr304Ile)	ORC1 (T304I)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 874012	NM_004153.4(ORC1):c.808G>A (p.Glu270Lys)	ORC1 (E270K)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 129864	NM_004153.4(ORC1):c.806C>T (p.Ser269Leu)	ORC1 (S269L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2441664	NM_004153.4(ORC1):c.688dup (p.Thr230fs)	ORC1 (T230fs)	Duplication (frameshift variant)	Meier-Gorlin syndrome 1	GLikely pathogenic
Select item 436115	NM_004153.4(ORC1):c.608C>T (p.Thr203Ile)	ORC1 (T203I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 129863	NM_004153.4(ORC1):c.568G>A (p.Val190Met)	ORC1 (V190M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 874013	NM_004153.4(ORC1):c.556T>C (p.Cys186Arg)	ORC1 (C186R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 445694	NM_004153.4(ORC1):c.540A>C (p.Gln180His)	ORC1 (Q180H)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +1 more	GBenign
Select item 297586	NM_004153.4(ORC1):c.535C>A (p.Pro179Thr)	ORC1 (P179T)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 2597050	NM_004153.4(ORC1):c.521C>T (p.Ala174Val)	ORC1 (A174V)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +1 more	GUncertain significance
Select item 3067926	NM_004153.4(ORC1):c.464T>C (p.Phe155Ser)	ORC1 (F155S)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297587	NM_004153.4(ORC1):c.435G>A (p.Pro145=)	ORC1	Single nucleotide variant (synonymous variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 1323388	NM_004153.4(ORC1):c.403-2A>C	ORC1	Single nucleotide variant (splice acceptor variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 211801	NM_004153.4(ORC1):c.403-7A>C	ORC1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 874947	NM_004153.4(ORC1):c.402+12C>T	ORC1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 297588	NM_004153.4(ORC1):c.392G>T (p.Gly131Val)	ORC1 (G131V)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 297589	NM_004153.4(ORC1):c.387C>T (p.Ile129=)	ORC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 30230	NM_004153.4(ORC1):c.380A>G (p.Glu127Gly)	ORC1 (E127G)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 30232	NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)	ORC1 (R105Q)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome +2 more	GPathogenic/Likely pathogenic
Select item 982308	NM_004153.4(ORC1):c.313C>T (p.Arg105Trp)	ORC1 (R105W)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GLikely pathogenic
Select item 874948	NM_004153.4(ORC1):c.289G>T (p.Ala97Ser)	ORC1 (A97S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 30231	NM_004153.4(ORC1):c.266T>C (p.Phe89Ser)	ORC1 (F89S)	Single nucleotide variant (missense variant)	ORC1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1034052	NM_004153.4(ORC1):c.237del (p.Pro80fs)	ORC1 (P80fs)	Deletion (frameshift variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 1173068	NM_004153.4(ORC1):c.217G>A (p.Glu73Lys)	ORC1 (E73K)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1	GPathogenic
Select item 874949	NM_004153.4(ORC1):c.189G>T (p.Pro63=)	ORC1	Single nucleotide variant (synonymous variant)	ORC1-related disorder +2 more	GBenign/Likely benign
Select item 875877	NM_004153.4(ORC1):c.151C>G (p.Gln51Glu)	ORC1 (Q51E)	Single nucleotide variant (missense variant)	Meier-Gorlin syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 259242	NM_004153.4(ORC1):c.57G>C (p.Arg19Ser)	ORC1 (R19S)	Single nucleotide variant (missense variant)	ORC1-related disorder +3 more	GBenign/Likely benign
Select item 875878	NM_004153.4(ORC1):c.-5-12A>T	ORC1	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 875879	NM_004153.4(ORC1):c.-178C>T	LOC126805733, ORC1	Single nucleotide variant (5 prime UTR variant)	Meier-Gorlin syndrome 1	GUncertain significance
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 252555	NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg)	PGM1 (S369R +2 more)	Single nucleotide variant (missense variant)	PGM1-related disorder +3 more	GConflicting classifications of pathogenicity

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