genista pol iii - ClinVar

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Items: 47

The following term was not found in ClinVar: genista.
Showing results for Genista pollinii. Your search for Genista pollinii retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356872	NM_203290.4(POLR1C):c.193A>G (p.Met65Val)	POLR1C (M65V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 30811	NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)	POLR1C (R279Q)	Single nucleotide variant (missense variant)	Treacher Collins syndrome 3 +4 more	GPathogenic/Likely pathogenic
Select item 300998	NM_007055.4(POLR3A):c.1771_1780del	POLR3A	Deletion (3 prime UTR variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 301003	NM_007055.4(POLR3A):c.*1640del	POLR3A	Deletion (3 prime UTR variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 301008	NM_007055.4(POLR3A):c.*1342del	POLR3A	Deletion (3 prime UTR variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 301029	NM_007055.4(POLR3A):c.*272G>A	POLR3A	Single nucleotide variant (3 prime UTR variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 301039	NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=)	POLR3A	Single nucleotide variant (synonymous variant)	POLR3-related leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 549559	NM_007055.4(POLR3A):c.3337-11T>C	POLR3A	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 31149	NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)	POLR3A (R1005C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 31148	NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn)	POLR3A (I897N)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GPathogenic
Select item 1298491	NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser)	POLR3A (G841S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3366589	NM_007055.4(POLR3A):c.2100del (p.Ile700fs)	POLR3A (I700fs)	Deletion (frameshift variant)	POLR3-related leukodystrophy	GPathogenic
Select item 31143	NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)	POLR3A (G672E)	Single nucleotide variant (missense variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GPathogenic/Likely pathogenic
Select item 805934	NM_007055.4(POLR3A):c.[1909+22G>A;3337-11T>C]	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome	GPathogenic
Select item 445922	NM_007055.4(POLR3A):c.1909+22G>A	POLR3A	Single nucleotide variant (intron variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 301066	NM_007055.4(POLR3A):c.1771-5del	POLR3A	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 449556	NM_007055.4(POLR3A):c.1771-7C>G	POLR3A	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1063001	NM_007055.4(POLR3A):c.1744C>T (p.Arg582Cys)	POLR3A (R582C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 41241	NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu)	POLR3A (F558L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 617894	NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	POLR3A (R254*)	Single nucleotide variant (nonsense)	POLR3-related leukodystrophy +3 more	GPathogenic/Likely pathogenic
Select item 301082	NM_007055.4(POLR3A):c.318+13G>C	LOC126860971, POLR3A	Single nucleotide variant (intron variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 301086	NM_007055.4(POLR3A):c.-103T>A	POLR3A, LOC130004143 +1 more	Single nucleotide variant (5 prime UTR variant)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +2 more	GConflicting classifications of pathogenicity
Select item 301088	NM_033022.3(RPS24):c.-109A>G	LOC130004144, POLR3A +1 more	Single nucleotide variant	not provided +3 more	GBenign
Select item 301091	NM_033022.4(RPS24):c.-8T>G	LOC130004144, POLR3A +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign
Select item 2691390	NC_000010.10:g.(79779024_79781303)_(79782143_79784306)del	POLR3A	Deletion	POLR3-related leukodystrophy	GPathogenic
Select item 306920	NM_018082.5(POLR3B):c.-186C>A	POLR3B	Single nucleotide variant	POLR3-related leukodystrophy	GUncertain significance
Select item 306921	NM_018082.5(POLR3B):c.-173C>T	POLR3B	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989354	NM_018082.6(POLR3B):c.478G>A (p.Glu160Lys)	POLR3B (E102K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 972978	NM_018082.6(POLR3B):c.1094C>T (p.Ala365Val)	POLR3B (A365V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	GPathogenic
Select item 989355	NM_018082.6(POLR3B):c.1121A>G (p.Glu374Gly)	POLR3B (E316G +1 more)	Single nucleotide variant (missense variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 1048512	NM_018082.6(POLR3B):c.1124A>T (p.Asp375Val)	POLR3B (D317V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 285205	NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	POLR3B (M415T +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 31166	NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	POLR3B (V523E +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +8 more	GPathogenic/Likely pathogenic
Select item 31162	NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)	POLR3B (R550* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 31160	NM_018082.6(POLR3B):c.1857-2A>C	POLR3B	Single nucleotide variant (splice acceptor variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic
Select item 1342659	NM_018082.6(POLR3B):c.2191G>C (p.Glu731Gln)	POLR3B (E731Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873511	NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr)	POLR3B (A702T +1 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism +2 more	GConflicting classifications of pathogenicity
Select item 31161	NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)	POLR3B (R768H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1069879	NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter)	POLR3B (R747* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2637961	NM_018082.6(POLR3B):c.2974G>A (p.Gly992Ser)	LOC100287944, POLR3B (G934S +1 more)	Single nucleotide variant (missense variant)	POLR3-related leukodystrophy	GUncertain significance
Select item 1048513	NM_018082.6(POLR3B):c.3137G>A (p.Arg1046His)	POLR3B, LOC100287944 (R1046H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, demyelinating, IIA 1I +1 more	GPathogenic/Likely pathogenic
Select item 161424	NM_001519.4(BRF1):c.776C>T (p.Thr259Met)	BRF1 (T144M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 161423	NM_001519.4(BRF1):c.677C>T (p.Ser226Leu)	BRF1 (S111L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 161425	NM_001519.4(BRF1):c.667C>T (p.Arg223Trp)	BRF1 (R108W +3 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar-facial-dental syndrome	GPathogenic
Select item 560463	NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)	GUCY2D (R768Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 6 +4 more	GPathogenic/Likely pathogenic
Select item 1687027	NM_006466.4(POLR3F):c.271C>T (p.Gln91Ter)	POLR3F (Q50* +1 more)	Single nucleotide variant (nonsense +1 more)	Immunodeficiency 101 (varicella zoster virus-specific)	GPathogenic
Select item 424793	NM_018082.5(POLR3B):c.[1568T>A];[1988C>T]			Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	GLikely pathogenic

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Items: 47