"Baylor Genetics"[submitter] AND "POLGARF"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677952	NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)	POLG, POLGARF (Y1210*)	Duplication (nonsense)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 285869	NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)	POLG, POLGARF (G1205fs)	Duplication (frameshift variant)	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 807659	NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)	POLG, POLGARF	Microsatellite (nonsense)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +1 more	GPathogenic/Likely pathogenic
Select item 817854	NM_002693.3(POLG):c.3568del (p.Arg1190fs)	POLG, POLGARF +1 more (R1190fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 2677958	NM_002693.3(POLG):c.3565dup (p.Leu1189fs)	POLG, POLGARF (L1189fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240173	NM_002693.3(POLG):c.3539dup (p.Ser1181fs)	POLG, POLGARF (S1181fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677955	NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)	POLG, POLGARF (A1178fs)	Microsatellite (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 805230	NM_002693.3(POLG):c.3528_3531del (p.Val1177fs)	POLG, POLGARF (V1177fs)	Microsatellite (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 422438	NM_002693.3(POLG):c.3424dup (p.Arg1142fs)	POLG, POLGARF (R1142fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2677954	NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)	POLG, POLGARF (S1104C)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 813494	NM_002693.3(POLG):c.3282del (p.Ser1095fs)	POLG, POLGARF (S1095fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 2677943	NM_002693.3(POLG):c.3277_3278del (p.Met1093fs)	POLG, POLGARF (M1093fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677950	NM_002693.3(POLG):c.3229dup (p.Cys1077fs)	POLG, POLGARF (C1077fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677949	NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)	POLG, POLGARF (E1054fs)	Microsatellite (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 817632	NM_002693.3(POLG):c.3158_3159del (p.Thr1053fs)	POLG, POLGARF (T1053fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2677957	NM_002693.3(POLG):c.2951_2954dup (p.Met985fs)	POLG, POLGARF (M985fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 1030582	NM_002693.3(POLG):c.2777G>A (p.Ser926Asn)	POLG, POLGARF (S926N)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 807660	NM_002693.3(POLG):c.2515del (p.Ala839fs)	POLG, POLGARF (A839fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 619400	NM_002693.3(POLG):c.2480+1G>A	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 1030581	NM_002693.3(POLG):c.2384A>G (p.Asn795Ser)	POLG, POLGARF (N795S)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GUncertain significance
Select item 2677965	NM_002693.3(POLG):c.2070+2T>G	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677960	NM_002693.3(POLG):c.1944del (p.Tyr649fs)	POLG, POLGARF (Y649fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240178	NM_002693.3(POLG):c.1845_1846insTA (p.Glu616Ter)	POLG, POLGARF (E616*)	Insertion (nonsense)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677968	NM_002693.3(POLG):c.1845dup (p.Glu616fs)	POLG, POLGARF (E616fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240172	NM_002693.3(POLG):c.1712+2T>G	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677946	NM_002693.3(POLG):c.1640_1641del (p.Ala547fs)	POLG, POLGARF (A547fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 1030580	NM_002693.3(POLG):c.1586-1G>A	MIR6766, POLG +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Progressive sclerosing poliodystrophy +1 more	GLikely pathogenic
Select item 2677963	NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)	POLG, POLGARF (E454*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677961	NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)	POLG, POLGARF (Y452*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 2677959	NM_002693.3(POLG):c.1341_1342dup (p.Ala448fs)	POLG, POLGARF (A448fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677966	NM_002693.3(POLG):c.1251-2A>T	POLG, POLGARF	Single nucleotide variant (splice acceptor variant)	Progressive sclerosing poliodystrophy	GPathogenic
Select item 2677948	NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)	POLG, POLGARF (R417T)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677942	NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)	POLG, POLGARF (W401*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 595458	NM_002693.3(POLG):c.1024-1G>C	POLG, POLGARF	Single nucleotide variant (splice acceptor variant)	Progressive sclerosing poliodystrophy +1 more	GPathogenic/Likely pathogenic
Select item 2677941	NM_002693.3(POLG):c.934_935del (p.Trp312fs)	POLG, POLGARF (W312fs)	Microsatellite (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677945	NM_002693.3(POLG):c.895A>C (p.Met299Leu)	POLG, POLGARF (M299L)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677956	NM_002693.3(POLG):c.884dup (p.Met295fs)	POLG, POLGARF (M295fs)	Duplication (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240175	NM_002693.3(POLG):c.855+1G>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 803122	NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)	POLG, POLGARF (Y282D)	Single nucleotide variant (missense variant)	Progressive sclerosing poliodystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2677962	NM_002693.3(POLG):c.793_794del (p.Leu265fs)	POLG, POLGARF (L265fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 3240176	NM_002693.3(POLG):c.740del (p.Leu247fs)	POLG, POLGARF (L247fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 13515	NM_002693.3(POLG):c.679C>T (p.Arg227Trp)	POLG, POLGARF (R227W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 3240174	NM_002693.3(POLG):c.659+1G>C	POLG, POLGARF	Single nucleotide variant (splice donor variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 2677967	NM_002693.3(POLG):c.508del (p.Ala170fs)	POLG, POLGARF (A170fs)	Deletion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 206577	NM_002693.3(POLG):c.428C>T (p.Ala143Val)	POLG, POLGARF (A143V)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +3 more	GConflicting classifications of pathogenicity
Select item 381522	NM_002693.3(POLG):c.264C>G (p.Phe88Leu)	POLGARF, POLG (F88L)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 279988	NM_002693.3(POLG):c.202C>T (p.Gln68Ter)	POLG, POLGARF (Q68*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1961036	NM_002693.3(POLG):c.178C>T (p.Gln60Ter)	POLG, POLGARF (Q60*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 959671	NM_002693.3(POLG):c.172C>T (p.Gln58Ter)	POLG, POLGARF (Q58*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GPathogenic/Likely pathogenic
Select item 598699	NM_002693.3(POLG):c.160C>T (p.Gln54Ter)	POLG, POLGARF (Q54*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2677951	NM_002693.3(POLG):c.158_159insGC (p.Gln54fs)	POLG, POLGARF (Q54fs)	Insertion (frameshift variant)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 195177	NM_002693.3(POLG):c.131A>G (p.Gln44Arg)	POLG, POLGARF (Q44R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3240171	NM_002693.3(POLG):c.130C>T (p.Gln44Ter)	POLG, POLGARF (Q44*)	Single nucleotide variant (nonsense)	Progressive sclerosing poliodystrophy	GLikely pathogenic
Select item 528383	NM_002693.3(POLG):c.1A>G (p.Met1Val)	POLG, POLGARF (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Items: 54