liopyris diffuse - ClinVar - NCBI

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The following term was not found in ClinVar: liopyris.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580982	NM_022114.4(PRDM16):c.2611G>A (p.Glu871Lys)	PRDM16 (E871K)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8	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 584432	NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)	MTOR (T1977I)	Single nucleotide variant (missense variant)	Isolated focal cortical dysplasia type II +3 more	GPathogenic
Select item 859	NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile)	UBIAD1 (T175I)	Single nucleotide variant (missense variant)	Schnyder crystalline corneal dystrophy	GPathogenic
Select item 996033	NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)	MTHFR (I153M +1 more)	Single nucleotide variant (missense variant)	Neural tube defects, folate-sensitive +3 more	GPathogenic/Likely pathogenic
Select item 1221	NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)	ATP13A2 (G504R +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +1 more	GPathogenic/Likely pathogenic
Select item 30833	NM_022089.4(ATP13A2):c.1101_1102dup (p.Thr368fs)	ATP13A2 (T363fs +1 more)	Microsatellite (frameshift variant)	Kufor-Rakeb syndrome	GPathogenic
Select item 584582	NM_003000.3(SDHB):c.769C>G (p.Leu257Val)	SDHB (L257V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 39584	NM_003000.3(SDHB):c.143A>T (p.Asp48Val)	SDHB (D48V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GConflicting classifications of pathogenicity
Select item 374868	NM_016233.2(PADI3):c.335T>A (p.Leu112His)	PADI3 (L112H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 374867	NM_016233.2(PADI3):c.881C>T (p.Ala294Val)	PADI3 (A294V)	Single nucleotide variant (missense variant)	Uncombable hair syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 374869	NM_016233.2(PADI3):c.1813C>A (p.Pro605Thr)	PADI3 (P605T)	Single nucleotide variant (missense variant)	Uncombable hair syndrome 1	GPathogenic
Select item 556736	NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)	HMGCL (N275K +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GConflicting classifications of pathogenicity
Select item 1509175	NM_006015.6(ARID1A):c.5012G>A (p.Arg1671Gln)	ARID1A (R1454Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575669	NM_001394062.1(MACF1):c.14709G>T (p.Gln4903His)	LOC114803468, MACF1 (Q2841H +1 more)	Single nucleotide variant (missense variant)	Lissencephaly 9 with complex brainstem malformation +1 more	GUncertain significance
Select item 2665094	NM_000310.4(PPT1):c.335T>C (p.Met112Thr)	PPT1 (M112T)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
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 29723	NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr)	SLC2A1	Duplication (inframe_insertion)	Childhood onset GLUT1 deficiency syndrome 2	GPathogenic
Select item 842670	NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)	SLC2A1 (R223Q)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 2572079	NM_003738.5(PTCH2):c.2092G>A (p.Gly698Ser)	PTCH2 (G698S)	Single nucleotide variant (missense variant)	Diffuse midline glioma, H3 K27-altered	GUncertain significance
Select item 875157	NM_020365.5(EIF2B3):c.*401T>C	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GLikely benign
Select item 876121	NM_020365.5(EIF2B3):c.*282G>A	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 876122	NM_020365.5(EIF2B3):c.*266C>T	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 297439	NM_020365.5(EIF2B3):c.*201C>G	EIF2B3	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 876123	NM_020365.5(EIF2B3):c.*55C>T	EIF2B3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 297440	NM_020365.5(EIF2B3):c.1319A>G (p.Asn440Ser)	EIF2B3 (N440S)	Single nucleotide variant (3 prime UTR variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 297441	NM_020365.5(EIF2B3):c.1287C>T (p.Gly429=)	EIF2B3	Single nucleotide variant (intron variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 870560	NM_020365.5(EIF2B3):c.1277T>C (p.Ile426Thr)	EIF2B3 (I426T)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GUncertain significance
Select item 876124	NM_020365.5(EIF2B3):c.1274T>G (p.Leu425Trp)	EIF2B3 (L425W)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease	GUncertain significance
Select item 876125	NM_020365.5(EIF2B3):c.1208A>G (p.Asn403Ser)	EIF2B3 (N403S)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease +1 more	GUncertain significance
Select item 95945	NM_020365.5(EIF2B3):c.1202+8T>G	EIF2B3 (S404A)	Single nucleotide variant (missense variant +1 more)	Vanishing white matter disease +2 more	GBenign/Likely benign
Select item 297442	NM_020365.5(EIF2B3):c.1201G>A (p.Gly401Arg)	EIF2B3 (G401R +1 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 877070	NM_020365.5(EIF2B3):c.1141A>G (p.Ile381Val)	EIF2B3 (I381V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 877071	NM_020365.5(EIF2B3):c.1130C>T (p.Ser377Leu)	EIF2B3 (S377L)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 4440	NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr)	EIF2B3 (I346T)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 3	GPathogenic
Select item 716801	NM_020365.5(EIF2B3):c.983A>G (p.Lys328Arg)	EIF2B3 (K328R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 261224	NM_020365.5(EIF2B3):c.975+9A>G	EIF2B3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 877072	NM_020365.5(EIF2B3):c.864C>G (p.Asp288Glu)	EIF2B3 (D288E)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 210933	NM_020365.5(EIF2B3):c.833A>G (p.Tyr278Cys)	EIF2B3 (Y278C)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GUncertain significance
Select item 874279	NM_020365.5(EIF2B3):c.785-6C>G	EIF2B3	Single nucleotide variant (intron variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 297443	NM_020365.5(EIF2B3):c.743A>G (p.Glu248Gly)	EIF2B3 (E248G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 617735	NM_020365.5(EIF2B3):c.706C>G (p.Gln236Glu)	EIF2B3 (Q236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691306	NM_020365.5(EIF2B3):c.687T>G (p.Ile229Met)	EIF2B3 (I229M)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GConflicting classifications of pathogenicity
Select item 1285271	NM_020365.5(EIF2B3):c.674G>C (p.Arg225Pro)	EIF2B3 (R225P)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GPathogenic
Select item 297444	NM_020365.5(EIF2B3):c.634G>A (p.Val212Met)	EIF2B3 (V212M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 261221	NM_020365.5(EIF2B3):c.633C>T (p.Ile211=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GBenign/Likely benign
Select item 297445	NM_020365.5(EIF2B3):c.591G>A (p.Thr197=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +1 more	GConflicting classifications of pathogenicity
Select item 972716	NM_020365.5(EIF2B3):c.503T>C (p.Leu168Pro)	EIF2B3 (L168P)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 874280	NM_020365.5(EIF2B3):c.464G>A (p.Arg155His)	EIF2B3 (R155H)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GUncertain significance
Select item 1032836	NM_020365.5(EIF2B3):c.442A>G (p.Lys148Glu)	EIF2B3 (K148E)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 297446	NM_020365.5(EIF2B3):c.439G>C (p.Gly147Arg)	EIF2B3 (G147R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 874281	NM_020365.5(EIF2B3):c.430G>A (p.Gly144Ser)	EIF2B3 (G144S)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GUncertain significance
Select item 297447	NM_020365.5(EIF2B3):c.388A>G (p.Met130Val)	EIF2B3 (M130V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 875215	NM_020365.5(EIF2B3):c.277A>G (p.Ile93Val)	EIF2B3 (I93V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 431961	NM_020365.5(EIF2B3):c.272G>A (p.Arg91His)	EIF2B3 (R91H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 4439	NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)	EIF2B3 (A87V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 95947	NM_020365.5(EIF2B3):c.243C>T (p.Asp81=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +2 more	GBenign
Select item 500850	NM_020365.5(EIF2B3):c.224T>C (p.Ile75Thr)	EIF2B3 (I75T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 875216	NM_020365.5(EIF2B3):c.189A>G (p.Leu63=)	EIF2B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297448	NM_020365.5(EIF2B3):c.189A>T (p.Leu63=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease +1 more	GBenign/Likely benign
Select item 95946	NM_020365.5(EIF2B3):c.149-4A>G	EIF2B3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 876174	NM_020365.5(EIF2B3):c.134G>A (p.Arg45His)	EIF2B3 (R45H)	Single nucleotide variant (missense variant)	Vanishing white matter disease +3 more	GUncertain significance
Select item 297449	NM_020365.5(EIF2B3):c.130G>A (p.Glu44Lys)	EIF2B3 (E44K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 560922	NM_020365.5(EIF2B3):c.97A>G (p.Lys33Glu)	EIF2B3 (K33E)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 617677	NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)	EIF2B3 (V30A)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GLikely pathogenic
Select item 1496820	NM_020365.5(EIF2B3):c.71C>T (p.Pro24Leu)	EIF2B3 (P24L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 297450	NM_020365.5(EIF2B3):c.44G>A (p.Arg15Gln)	EIF2B3 (R15Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 876175	NM_020365.5(EIF2B3):c.15A>C (p.Ala5=)	EIF2B3	Single nucleotide variant (synonymous variant)	Vanishing white matter disease	GUncertain significance
Select item 297451	NM_020365.5(EIF2B3):c.-26C>G	EIF2B3, LOC129930429	Single nucleotide variant (5 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 297452	NM_020365.5(EIF2B3):c.-56G>A	EIF2B3, LOC129930429	Single nucleotide variant (5 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 297453	NM_020365.5(EIF2B3):c.-72C>G	EIF2B3, LOC129930429	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 876176	NM_020365.4(EIF2B3):c.-155A>C	EIF2B3, LOC129930429	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 876313	NM_020365.4(EIF2B3):c.-172C>G	EIF2B3	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 876312	NM_020365.4(EIF2B3):c.-172C>T	EIF2B3	Single nucleotide variant	Vanishing white matter disease	GUncertain significance
Select item 876314	NM_020365.4(EIF2B3):c.-181A>T	EIF2B3	Single nucleotide variant	Vanishing white matter disease	GBenign
Select item 1692571	NM_001048174.2(MUTYH):c.1341G>A (p.Trp447Ter)	MUTYH (W332* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +6 more	GPathogenic/Likely pathogenic
Select item 3999	NM_017739.4(POMGNT1):c.652+1G>A	POMGNT1, TSPAN1	Single nucleotide variant (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +2 more	GPathogenic/Likely pathogenic
Select item 889	NC_000001.11:g.63322420G>T	FOXD3, FOXD3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	Autoimmune disease, susceptibility to, 1	Grisk factor
Select item 1213912	NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)	RPE65 (G48E)	Single nucleotide variant (missense variant)	RPE65-related recessive retinopathy	GLikely pathogenic FDA Recognized database
Select item 99403	NM_000350.3(ABCA4):c.5714+5G>A	ABCA4	Single nucleotide variant (intron variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 7901	NM_000350.2(ABCA4):c.[1622T>C;3113C>T]	ABCA4 (A1038V +2 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 7894	NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)	ABCA4 (A1038V +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 1802193	NM_194292.3(SASS6):c.1057-6_1057-2del	SASS6	Deletion (splice acceptor variant)	Microcephaly 14, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 13900	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS (Q61R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity OOncogenic
Select item 8723	NM_005267.5(GJA8):c.741T>G (p.Ile247Met)	GJA8 (I247M)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GBenign/Likely benign
Select item 1809693	NM_000157.4(GBA1):c.*92G>A	GBA1, LOC106627981	Single nucleotide variant (3 prime UTR variant)	Gaucher disease type II +6 more	GLikely benign
Select item 4311	NM_000157.4(GBA1):c.1604G>A (p.Arg535His)	GBA1, LOC106627981 (R535H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +9 more	GPathogenic/Likely pathogenic
Select item 596681	NM_000157.4(GBA1):c.1506-10_1506-9delinsGA	GBA1, LOC106627981	Indel (intron variant)	not provided +7 more	GUncertain significance
Select item 4295	NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	GBA1, LOC106627981 (R502C +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +9 more	GPathogenic
Select item 806227	NM_000157.4(GBA1):c.1495G>A (p.Val499Met)	GBA1, LOC106627981 (V499M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease perinatal lethal +7 more	GUncertain significance
Select item 256872	NM_000157.4(GBA1):c.1473C>T (p.Pro491=)	GBA1, LOC106627981	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 4297	NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]	GBA1, LOC106627981 (L483P +5 more)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset +1 more	GPathogenic
Select item 4288	NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	GBA1, LOC106627981 (L483P +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +14 more	GPathogenic; risk factor
Select item 4335	NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)	GBA1, LOC106627981 (D395N +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 801555	NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)	GBA1, LOC106627981 (S376T +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +6 more	GUncertain significance
Select item 1722541	NM_000157.4(GBA1):c.1361C>T (p.Pro454Leu)	GBA1, LOC106627981 (P367L +2 more)	Single nucleotide variant (missense variant)	Lewy body dementia	GPathogenic
Select item 1199281	NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)	LOC106627981, GBA1 (T362M +2 more)	Single nucleotide variant (missense variant)	Gaucher disease type I +7 more	GUncertain significance
Select item 4334	NM_001005741.2(GBA1):c.[880T>G;1342G>C]	GBA1, LOC106627981 (D448H +5 more)	Single nucleotide variant (missense variant)	Gaucher disease type II +1 more	GPathogenic
Select item 4293	NM_000157.4(GBA1):c.1342G>C (p.Asp448His)	GBA1, LOC106627981 (D448H +2 more)	Single nucleotide variant (missense variant)	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +9 more	GPathogenic/Likely pathogenic

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