5828[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 59787	GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3	LOC130000438, LOC130000439 +421 more	Copy number gain	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000602, LOC130000603 +470 more	Copy number gain	See cases	GPathogenic
Select item 148965	GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3	LOC130000640, LOC130000641 +245 more	Copy number gain	See cases	GPathogenic
Select item 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000617, LOC130000618 +191 more	Copy number loss	See cases	GPathogenic
Select item 144237	GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1	CASC9, CRISPLD1 +115 more	Copy number loss	See cases	GPathogenic
Select item 58430	GRCh38/hg38 8q21.13(chr8:75021712-78044590)x3	CASC9, CRISPLD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 146063	GRCh38/hg38 8q21.13(chr8:76115629-78506009)x1	LINC01109, LINC01111 +18 more	Copy number loss	See cases	GUncertain significance
Select item 363768	NM_000318.3(PEX2):c.*2973T>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363769	NM_000318.3(PEX2):c.2920_2922del	PEX2	Deletion (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 363770	NM_000318.3(PEX2):c.*2894T>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363771	NM_000318.3(PEX2):c.*2787G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 910187	NM_000318.3(PEX2):c.*2700G>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363772	NM_000318.3(PEX2):c.*2663T>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 910188	NM_000318.3(PEX2):c.*2554G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 910189	NM_000318.3(PEX2):c.*2519G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363773	NM_000318.3(PEX2):c.*2518C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363774	NM_000318.3(PEX2):c.*2466A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 910190	NM_000318.3(PEX2):c.*2456C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363775	NM_000318.3(PEX2):c.*2446C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 911071	NM_000318.3(PEX2):c.*2443A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 363776	NM_000318.3(PEX2):c.*2430T>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 911072	NM_000318.3(PEX2):c.*2404A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363777	NM_000318.3(PEX2):c.*2377A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 363778	NM_000318.3(PEX2):c.*2338C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 363779	NM_000318.3(PEX2):c.*2306A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 363780	NM_000318.3(PEX2):c.*2294C>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363781	NM_000318.3(PEX2):c.*2142A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 363782	NM_000318.3(PEX2):c.*2057G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363783	NM_000318.3(PEX2):c.*2007A>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 912307	NM_000318.3(PEX2):c.*2004C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 363784	NM_000318.3(PEX2):c.*1909G>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 912308	NM_000318.3(PEX2):c.*1858G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363785	NM_000318.3(PEX2):c.*1854A>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363786	NM_000318.3(PEX2):c.*1842G>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 363787	NM_000318.3(PEX2):c.*1811C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 908303	NM_000318.3(PEX2):c.*1808C>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363788	NM_000318.3(PEX2):c.*1765G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 363789	NM_000318.3(PEX2):c.*1755A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 908304	NM_000318.3(PEX2):c.*1749A>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363790	NM_000318.3(PEX2):c.*1716A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363791	NM_000318.3(PEX2):c.*1696C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 910257	NM_000318.3(PEX2):c.*1606T>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363792	NM_000318.3(PEX2):c.*1602A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 910258	NM_000318.3(PEX2):c.*1601T>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 910259	NM_000318.3(PEX2):c.*1581T>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363793	NM_000318.3(PEX2):c.*1561G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363794	NM_000318.3(PEX2):c.*1466ATT[1]	PEX2	Microsatellite (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 363795	NM_000318.3(PEX2):c.*1448C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 910260	NM_000318.3(PEX2):c.*1400A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363796	NM_000318.3(PEX2):c.*1370A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 911145	NM_000318.3(PEX2):c.*1331T>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 911146	NM_000318.3(PEX2):c.*1319A>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363797	NM_000318.3(PEX2):c.*1242A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 363798	NM_000318.3(PEX2):c.*1194A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 911147	NM_000318.3(PEX2):c.*1174A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363799	NM_000318.3(PEX2):c.*1141G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 363800	NM_000318.3(PEX2):c.*1085T>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363801	NM_000318.3(PEX2):c.*1047T>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 911349	NM_000318.3(PEX2):c.*1040C>G	PEX2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 911350	NM_000318.3(PEX2):c.*1012C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363802	NM_000318.3(PEX2):c.*913C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363803	NM_000318.3(PEX2):c.*819A>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 911351	NM_000318.3(PEX2):c.*789C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 911352	NM_000318.3(PEX2):c.*780T>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 911353	NM_000318.3(PEX2):c.*773T>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363804	NM_000318.3(PEX2):c.*727T>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 908372	NM_000318.3(PEX2):c.*705T>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 908373	NM_000318.3(PEX2):c.*659C>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 908374	NM_000318.3(PEX2):c.*645G>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363805	NM_000318.3(PEX2):c.*627G>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 908375	NM_000318.3(PEX2):c.*596G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363806	NM_000318.3(PEX2):c.*595C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 909222	NM_000318.3(PEX2):c.*498G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363807	NM_000318.3(PEX2):c.*489C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363808	NM_000318.3(PEX2):c.*458G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GBenign
Select item 909223	NM_000318.3(PEX2):c.*437T>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 909224	NM_000318.3(PEX2):c.*419T>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 909225	NM_000318.3(PEX2):c.*394T>C	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363809	NM_000318.3(PEX2):c.*324G>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 909226	NM_000318.3(PEX2):c.*319A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger) +1 more	GLikely benign
Select item 363810	NM_000318.3(PEX2):c.277_279del	PEX2	Deletion (3 prime UTR variant)	Peroxisome biogenesis disorder 1A (Zellweger)	GUncertain significance
Select item 363811	NM_000318.3(PEX2):c.*233C>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 1697995	NM_000318.3(PEX2):c.*137C>G	PEX2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 363812	NM_000318.3(PEX2):c.*103C>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 363813	NM_000318.3(PEX2):c.*91A>G	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363814	NM_000318.3(PEX2):c.*40G>A	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 363815	NM_000318.3(PEX2):c.*37C>T	PEX2	Single nucleotide variant (3 prime UTR variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance
Select item 556544	NM_000318.3(PEX2):c.916T>C (p.Ter306Gln)	PEX2	Single nucleotide variant (stop lost)	Peroxisome biogenesis disorder 5B +1 more	GUncertain significance
Select item 991599	NM_000318.3(PEX2):c.915T>A (p.Leu305=)	PEX2	Single nucleotide variant (synonymous variant)	Zellweger spectrum disorders	GUncertain significance
Select item 1636941	NM_000318.3(PEX2):c.912T>C (p.Ala304=)	PEX2	Single nucleotide variant (synonymous variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GLikely benign
Select item 2084006	NM_000318.3(PEX2):c.911C>T (p.Ala304Val)	PEX2 (A304V)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 5A (Zellweger)	GUncertain significance

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