Related gene-specific medical variations for Gene (Select 5195) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247784	NC_000001.10:g.(?_10596250)_(10596374_?)del	PEX14	Deletion	Peroxisome biogenesis disorder, complementation group K	GPathogenic
Select item 2804646	NM_004565.3(PEX14):c.488-15G>A	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2712121	NM_004565.3(PEX14):c.585+11C>T	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2111819	NM_004565.3(PEX14):c.585+19C>T	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2097752	NM_004565.3(PEX14):c.566A>G (p.His189Arg)	LOC126805616, PEX14 (H189R)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2063017	NM_004565.3(PEX14):c.525G>A (p.Glu175=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2058756	NM_004565.3(PEX14):c.585+10T>C	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 2046365	NM_004565.3(PEX14):c.535C>G (p.Gln179Glu)	LOC126805616, PEX14 (Q179E)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 2001452	NM_004565.3(PEX14):c.519C>G (p.Val173=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1928419	NM_004565.3(PEX14):c.585+11_585+12del	LOC126805616, PEX14	Microsatellite (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1914902	NM_004565.3(PEX14):c.585G>A (p.Lys195=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1626128	NM_004565.3(PEX14):c.585+18A>C	PEX14, LOC126805616	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1598427	NM_004565.3(PEX14):c.510C>T (p.Leu170=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1549712	NM_004565.3(PEX14):c.488-4G>A	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1530308	NM_004565.3(PEX14):c.510C>G (p.Leu170=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1528961	NM_004565.3(PEX14):c.488-22_488-20del	LOC126805616, PEX14	Deletion (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1479047	NM_004565.3(PEX14):c.568G>A (p.Glu190Lys)	LOC126805616, PEX14 (E190K)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1435290	NM_004565.3(PEX14):c.511G>A (p.Ala171Thr)	LOC126805616, PEX14 (A171T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1351347	NM_004565.3(PEX14):c.517G>A (p.Val173Ile)	LOC126805616, PEX14 (V173I)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 1156414	NM_004565.3(PEX14):c.531G>C (p.Leu177=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1153510	NM_004565.3(PEX14):c.488-5C>T	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1140322	NM_004565.3(PEX14):c.507C>T (p.Thr169=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1137760	NM_004565.3(PEX14):c.576C>T (p.Ala192=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 1134039	NM_004565.3(PEX14):c.585+23_585+32dup	LOC126805616, PEX14	Duplication (intron variant)	Peroxisome biogenesis disorder, complementation group K	GLikely benign
Select item 960358	NM_004565.3(PEX14):c.585+4C>A	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 935142	NM_004565.3(PEX14):c.577G>A (p.Ala193Thr)	LOC126805616, PEX14 (A193T)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GUncertain significance
Select item 876453	NM_004565.3(PEX14):c.488-14C>T	LOC126805616, PEX14	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder, complementation group K +1 more	GConflicting classifications of pathogenicity
Select item 791694	NM_004565.3(PEX14):c.504G>A (p.Thr168=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 598254	NM_004565.3(PEX14):c.516C>T (p.Ser172=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 13A (Zellweger) +2 more	GConflicting classifications of pathogenicity
Select item 595402	NM_004565.3(PEX14):c.543G>A (p.Gln181=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559024	NM_004565.3(PEX14):c.517G>T (p.Val173Phe)	LOC126805616, PEX14 (V173F)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder, complementation group K	GUncertain significance
Select item 498838	NM_004565.3(PEX14):c.574G>A (p.Ala192Thr)	LOC126805616, PEX14 (A192T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418404	NM_004565.3(PEX14):c.556G>C (p.Glu186Gln)	LOC126805616, PEX14 (E186Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 291678	NM_004565.3(PEX14):c.513C>A (p.Ala171=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 291192	NM_004565.3(PEX14):c.567C>T (p.His189=)	LOC126805616, PEX14	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198515	NM_004565.3(PEX14):c.575C>G (p.Ala192Gly)	LOC126805616, PEX14 (A192G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 7702	NG_008340.2:g.(25377_66267)_(66353_129292)del	PEX14	Deletion	Peroxisome biogenesis disorder 13A (Zellweger)	GPathogenic
Select item 7701	NM_004565.3(PEX14):c.553C>T (p.Gln185Ter)	LOC126805616, PEX14 (Q185*)	Single nucleotide variant (nonsense)	Peroxisome biogenesis disorder 13A (Zellweger)	GPathogenic

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Items: 38