Related gene-specific medical variations for Gene (Select 27445) - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305155	NM_033026.6(PCLO):c.14831C>A (p.Ser4944Tyr)	LOC126860089, PCLO (S4944Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305143	NM_033026.6(PCLO):c.14872G>A (p.Val4958Met)	LOC126860089, PCLO (V4958M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245930	NC_000007.13:g.(?_82508397)_(82586195_?)del	PCLO	Deletion	not provided	GLikely pathogenic
Select item 2997478	NM_033026.6(PCLO):c.14832C>T (p.Ser4944=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963911	NM_033026.6(PCLO):c.14910T>A (p.Thr4970=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872369	NM_033026.6(PCLO):c.14817A>G (p.Ala4939=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763877	NM_033026.6(PCLO):c.54G>T (p.Ala18=)	LOC129998728, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702091	NM_033026.6(PCLO):c.14907G>A (p.Glu4969=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700494	NM_033026.6(PCLO):c.14933+7G>C	LOC126860089, PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2689670	NM_033026.6(PCLO):c.4849A>G (p.Thr1617Ala)	PCLO (T1617A)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 2622062	NM_033026.6(PCLO):c.14932A>G (p.Ile4978Val)	LOC126860089, PCLO (I4978V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434609	NM_033026.6(PCLO):c.5147G>T (p.Gly1716Val)	PCLO (G1716V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 3	GUncertain significance
Select item 2131622	NM_033026.6(PCLO):c.14792-12C>T	LOC126860089, PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113291	NM_033026.6(PCLO):c.51G>A (p.Ala17=)	LOC129998728, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068694	NM_033026.6(PCLO):c.14810G>A (p.Arg4937Gln)	LOC126860089, PCLO (R4937Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050460	NM_033026.6(PCLO):c.14827G>C (p.Val4943Leu)	LOC126860089, PCLO (V4943L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042123	NM_033026.6(PCLO):c.14907G>T (p.Glu4969Asp)	LOC126860089, PCLO (E4969D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015650	NM_033026.6(PCLO):c.14792-5T>G	LOC126860089, PCLO	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2015404	NM_033026.6(PCLO):c.14877C>T (p.Asp4959=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996606	NM_033026.6(PCLO):c.14812C>G (p.Pro4938Ala)	LOC126860089, PCLO (P4938A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950166	NM_033026.6(PCLO):c.14842T>A (p.Ser4948Thr)	LOC126860089, PCLO (S4948T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943793	NM_033026.6(PCLO):c.14865G>T (p.Gly4955=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1921543	NM_033026.6(PCLO):c.14933+17T>C	LOC126860089, PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907814	NM_033026.6(PCLO):c.14914C>A (p.Leu4972Ile)	LOC126860089, PCLO (L4972I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661017	NM_033026.6(PCLO):c.39C>T (p.Pro13=)	LOC129998728, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636366	NM_033026.6(PCLO):c.14838C>T (p.Gly4946=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614919	NM_033026.6(PCLO):c.14916A>T (p.Leu4972=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565028	NM_033026.6(PCLO):c.14835C>T (p.Thr4945=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564797	NM_033026.6(PCLO):c.14933+18T>C	LOC126860089, PCLO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1534533	NM_033026.6(PCLO):c.14844G>A (p.Ser4948=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1531327	NM_033026.6(PCLO):c.63G>T (p.Ala21=)	LOC129998728, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1517720	NM_033026.6(PCLO):c.14923A>G (p.Ile4975Val)	LOC126860089, PCLO (I4975V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478964	NM_033026.6(PCLO):c.58G>T (p.Ala20Ser)	LOC129998728, PCLO (A20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477256	NM_033026.6(PCLO):c.14921C>G (p.Pro4974Arg)	LOC126860089, PCLO (P4974R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475195	NM_033026.6(PCLO):c.14822G>A (p.Ser4941Asn)	LOC126860089, PCLO (S4941N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472855	NM_033026.6(PCLO):c.50C>T (p.Ala17Val)	LOC129998728, PCLO (A17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1465185	NM_033026.6(PCLO):c.14864G>C (p.Gly4955Ala)	LOC126860089, PCLO (G4955A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1457921	NM_033026.6(PCLO):c.14865del (p.Tyr4956fs)	LOC126860089, PCLO (Y4956fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1417295	NM_033026.6(PCLO):c.36_47del (p.Pro13_Leu16del)	LOC129998728, PCLO	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1403622	NM_033026.6(PCLO):c.14933+3A>G	LOC126860089, PCLO	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1361040	NM_033026.6(PCLO):c.14833A>G (p.Thr4945Ala)	LOC126860089, PCLO (T4945A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360709	NM_033026.6(PCLO):c.45G>T (p.Gly15=)	LOC129998728, PCLO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356462	NM_033026.6(PCLO):c.38C>T (p.Pro13Leu)	LOC129998728, PCLO (P13L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1284805	NM_033026.6(PCLO):c.14904G>A (p.Gly4968=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 815004	GRCh37/hg19 7q21.11(chr7:82395240-82567416)x3	PCLO	Copy number gain	not provided	GUncertain significance
Select item 806004	NM_033026.6(PCLO):c.14035G>C (p.Gly4679Arg)	PCLO (G4679R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 783003	NM_033026.6(PCLO):c.14871C>T (p.Ser4957=)	LOC126860089, PCLO	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 782492	NM_033026.6(PCLO):c.58G>A (p.Ala20Thr)	LOC129998728, PCLO (A20T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 563358	GRCh37/hg19 7q21.11(chr7:82148143-82604908)x3	PCLO	Copy number gain	not provided	GUncertain significance

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Links from Gene

Items: 49