ClinVar for MedGen (Select 6070) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687892	NM_007055.4(POLR3A):c.2425G>C (p.Val809Leu)	POLR3A (V809L)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 2412811	NM_007279.3(U2AF2):c.470C>T (p.Pro157Leu)	U2AF2 (P157L)	Single nucleotide variant (missense variant)	Leukodystrophy	GLikely pathogenic
Select item 2412671	NM_007055.4(POLR3A):c.2710G>T (p.Gly904Ter)	POLR3A (G904*)	Single nucleotide variant (nonsense)	Leukodystrophy	GPathogenic
Select item 2412670	NM_007055.4(POLR3A):c.3115C>T (p.Gln1039Ter)	POLR3A (Q1039*)	Single nucleotide variant (nonsense)	Leukodystrophy	GPathogenic
Select item 2412669	NM_007055.4(POLR3A):c.4025-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	Leukodystrophy	GUncertain significance
Select item 1683500	NM_000287.4(PEX6):c.1680C>G (p.Pro560=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Global developmental delay +4 more	GUncertain significance
Select item 1454335	NM_007055.4(POLR3A):c.3688_3691dup (p.Asn1231delinsArgTer)	POLR3A	Duplication (nonsense)	Leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1453734	NM_007055.4(POLR3A):c.147_148insT (p.Pro50fs)	POLR3A (P50fs)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1442721	NM_007055.4(POLR3A):c.2563C>T (p.Arg855Trp)	POLR3A (R855W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1429579	NM_007055.4(POLR3A):c.3669C>A (p.Tyr1223Ter)	POLR3A (Y1223*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1385211	NM_007055.4(POLR3A):c.1393C>T (p.Gln465Ter)	POLR3A (Q465*)	Single nucleotide variant (nonsense)	Leukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1323486	NM_007055.4(POLR3A):c.2988+1G>A	POLR3A	Single nucleotide variant (splice donor variant)	Leukodystrophy +1 more	GConflicting classifications of pathogenicity
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 1184057	NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys)	POLR3A (E1261K)	Single nucleotide variant (missense variant)	Leukodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1184055	NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser)	POLR3A (G1240S)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GUncertain significance
Select item 1184054	NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln)	POLR3A (R1136Q)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1184052	NM_007055.4(POLR3A):c.2988+1G>T	POLR3A	Single nucleotide variant (splice donor variant)	Leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1184048	NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg)	POLR3A (G904R)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 1184041	NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe)	POLR3A (I700F)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 1184040	NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln)	POLR3A (R682Q)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GUncertain significance
Select item 1064452	NM_007055.4(POLR3A):c.3858C>A (p.His1286Gln)	POLR3A (H1286Q)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1051646	NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu)	POLR3A (F848L)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GUncertain significance
Select item 1030186	NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter)	POLR3A (R1245*)	Single nucleotide variant (nonsense)	Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome +1 more	GPathogenic
Select item 1029126	NM_007055.4(POLR3A):c.2423G>A (p.Arg808Gln)	POLR3A (R808Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1029125	NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)	POLR3A (G784S)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 996070	NM_016199.3(LSM7):c.121G>A (p.Asp41Asn)	LSM7 (D41N)	Single nucleotide variant (missense variant)	Leukodystrophy	GPathogenic
Select item 988361	NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter)	POLR3A (G1219*)	Single nucleotide variant (nonsense)	Leukodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 986804	NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs)	POLR3A (V1315fs)	Microsatellite (frameshift variant)	Leukodystrophy +2 more	GPathogenic/Likely pathogenic
Select item 878363	NM_007055.4(POLR3A):c.2081G>A (p.Arg694His)	POLR3A (R694H)	Single nucleotide variant (missense variant)	Leukodystrophy +1 more	GUncertain significance
Select item 694746	NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)	KARS1, LOC126862402 (A526V +2 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +4 more	GConflicting classifications of pathogenicity
Select item 689461	NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser)	TMEM63A (G567S)	Single nucleotide variant (missense variant)	Leukodystrophy	GPathogenic
Select item 689460	NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn)	TMEM63A (I462N)	Single nucleotide variant (missense variant)	Leukodystrophy	GPathogenic
Select item 689459	NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu)	TMEM63A (G168E)	Single nucleotide variant (missense variant)	Leukodystrophy	GPathogenic
Select item 625852	NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser)	DEGS1 (N255S +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GPathogenic
Select item 598970	NM_003907.3(EIF2B5):c.943C>T (p.Arg315Cys)	EIF2B5 (R315C)	Single nucleotide variant (missense variant)	Vanishing white matter disease +6 more	GPathogenic
Select item 549572	NM_007055.4(POLR3A):c.3392A>G (p.Lys1131Arg)	POLR3A (K1131R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 549571	NM_007055.4(POLR3A):c.3874G>A (p.Asp1292Asn)	POLR3A (D1292N)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GConflicting classifications of pathogenicity
Select item 549570	NM_007055.4(POLR3A):c.4003G>A (p.Gly1335Arg)	POLR3A (G1335R)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 549566	NM_007055.4(POLR3A):c.2707G>A (p.Gly903Arg)	POLR3A (G903R)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 549564	NM_007055.4(POLR3A):c.*18C>T	POLR3A	Single nucleotide variant (3 prime UTR variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +1 more	GConflicting classifications of pathogenicity
Select item 549558	NM_007055.4(POLR3A):c.3206G>A (p.Arg1069Gln)	POLR3A, LOC126860970 (R1069Q)	Single nucleotide variant (missense variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +2 more	GConflicting classifications of pathogenicity
Select item 523456	NM_002979.5(SCP2):c.199G>A (p.Gly67Ser)	SCP2 (G67S)	Single nucleotide variant (missense variant +2 more)	Leukodystrophy	GUncertain significance
Select item 523398	NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)	SLC9A6 (A449E +3 more)	Single nucleotide variant (missense variant)	Astigmatism +12 more	GUncertain significance
Select item 523368	NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser)	ERCC2 (P694S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 523282	GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)	RNF182, SIRT5 +6 more	Copy number gain	Astigmatism +12 more	GUncertain significance
Select item 432594	NM_007055.4(POLR3A):c.3337-5T>A	POLR3A	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 424792	NM_007055.3(POLR3A):c.[2554A>G];[367_369delAAG]			Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome	GLikely pathogenic
Select item 381806	NM_007055.4(POLR3A):c.2741G>A (p.Gly914Glu)	POLR3A (G914E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374506	NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)	ALMS1 (R579fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 374024	NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	GALC (G284S +2 more)	Single nucleotide variant (missense variant)	Status epilepticus +20 more	GPathogenic/Likely pathogenic
Select item 374023	NM_000153.4(GALC):c.196G>A (p.Ala66Thr)	GALC (A66T +1 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +19 more	GLikely pathogenic
Select item 373913	NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)	RAB33A, AIFM1 (A549V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 235466	NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)	POLR3A (R873*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 200987	NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)	MEN1 (P540S +3 more)	Single nucleotide variant (missense variant)	Hyperparathyroidism +7 more	GConflicting classifications of pathogenicity
Select item 183356	NM_207111.4(RNF216):c.2061G>A (p.Lys687=)	RNF216	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +1 more	GLikely pathogenic
Select item 134095	NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)	ERCC2 (F568fs)	Deletion (frameshift variant)	ERCC2-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 100729	NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)	HEXA	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 41248	NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr)	POLR3A (A1331T)	Single nucleotide variant (missense variant)	Leukodystrophy	GUncertain significance
Select item 41246	NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His)	POLR3A (R1005H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 41245	NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter)	POLR3A (E944*)	Single nucleotide variant (nonsense)	Leukodystrophy	GPathogenic
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 31146	NM_007055.4(POLR3A):c.2617-1G>A	POLR3A	Single nucleotide variant (splice acceptor variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +3 more	GPathogenic/Likely pathogenic
Select item 31145	NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)	POLR3A (M852V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3080	NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	ARSA (D337V +1 more)	Single nucleotide variant (missense variant)	Metachromatic leukodystrophy +2 more	GPathogenic/Likely pathogenic

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Items: 64