5190[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1746

<< First< Prev

Page of 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	LOC110121220, LOC110121246 +2579 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	LOC132089385, LOC132089386 +221 more	Copy number loss	See cases	GPathogenic
Select item 2627659	NM_000287.4(PEX6):c.[*438TAAA[1];2578C>T]	GNMT, PEX6 (R860W +1 more)	Microsatellite (3 prime UTR variant +2 more)	Peroxisome biogenesis disorder 4B	GPathogenic
Select item 356786	NM_000287.4(PEX6):c.*438TAAA[1]	GNMT, PEX6	Microsatellite (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 356787	NM_000287.4(PEX6):c.*407T>G	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 356788	NM_000287.4(PEX6):c.*368G>A	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 908244	NM_000287.4(PEX6):c.*343G>C	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 356789	NM_000287.4(PEX6):c.*319C>T	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 356790	NM_000287.4(PEX6):c.*212C>T	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1707121	NM_000287.4(PEX6):c.*181dup	PEX6	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 356791	NM_000287.4(PEX6):c.*168C>T	PEX6	Single nucleotide variant (3 prime UTR variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger)	GUncertain significance
Select item 1127948	NM_000287.4(PEX6):c.2943G>A (p.Ter981=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2151693	NM_000287.4(PEX6):c.2938T>A (p.Cys980Ser)	PEX6 (C892S +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1408138	NM_000287.4(PEX6):c.2938T>G (p.Cys980Gly)	PEX6 (C892G +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 255741	NM_000287.4(PEX6):c.2936C>T (p.Ala979Val)	PEX6 (A979V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4A (Zellweger) +3 more	GBenign/Likely benign
Select item 753630	NM_000287.4(PEX6):c.2928G>A (p.Lys976=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 834949	NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)	PEX6 (R887L +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1400486	NM_000287.4(PEX6):c.2923C>T (p.Arg975Cys)	PEX6 (R975C +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 1476960	NM_000287.4(PEX6):c.2921A>C (p.Gln974Pro)	PEX6 (Q886P +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1402867	NM_000287.4(PEX6):c.2915G>A (p.Arg972His)	PEX6 (R884H +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1037931	NM_000287.4(PEX6):c.2915G>T (p.Arg972Leu)	PEX6 (R884L +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1524569	NM_000287.4(PEX6):c.2914C>T (p.Arg972Cys)	PEX6 (R884C +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1714549	NM_000287.4(PEX6):c.2913G>C (p.Lys971Asn)	PEX6 (K883N +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1117550	NM_000287.4(PEX6):c.2910C>T (p.Tyr970=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2143142	NM_000287.4(PEX6):c.2908T>C (p.Tyr970His)	PEX6 (Y970H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1635620	NM_000287.4(PEX6):c.2907G>A (p.Arg969=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 356792	NM_000287.4(PEX6):c.2907G>C (p.Arg969=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 2105344	NM_000287.4(PEX6):c.2906G>T (p.Arg969Leu)	PEX6 (R969L +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 499342	NM_000287.4(PEX6):c.2906G>A (p.Arg969Gln)	PEX6 (R969Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2079063	NM_000287.4(PEX6):c.2905C>T (p.Arg969Trp)	PEX6 (R881W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2865681	NM_000287.4(PEX6):c.2904C>T (p.Leu968=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2852489	NM_000287.4(PEX6):c.2901G>A (p.Leu967=)	PEX6	Single nucleotide variant (non-coding transcript variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2001359	NM_000287.4(PEX6):c.2895G>A (p.Gln965=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2156616	NM_000287.4(PEX6):c.2893C>G (p.Gln965Glu)	PEX6 (Q877E +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1629405	NM_000287.4(PEX6):c.2892G>A (p.Glu964=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 373489	NM_000287.4(PEX6):c.2891dup (p.Gln965fs)	PEX6 (Q877fs +1 more)	Duplication (frameshift variant +1 more)	Peroxisome biogenesis disorder +2 more	GUncertain significance
Select item 1122035	NM_000287.4(PEX6):c.2889T>C (p.Ser963=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 595755	NM_000287.4(PEX6):c.2885T>C (p.Val962Ala)	PEX6 (V962A +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 1487495	NM_000287.4(PEX6):c.2884G>A (p.Val962Ile)	PEX6 (V874I +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2102850	NM_000287.4(PEX6):c.2883A>G (p.Ser961=)	PEX6	Single nucleotide variant (non-coding transcript variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1573777	NM_000287.4(PEX6):c.2883A>T (p.Ser961=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 287777	NM_000287.4(PEX6):c.2882C>T (p.Ser961Leu)	PEX6 (S961L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1381190	NM_000287.4(PEX6):c.2878C>T (p.Pro960Ser)	PEX6 (P872S +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 356793	NM_000287.4(PEX6):c.2877A>G (p.Gln959=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder +1 more	GConflicting classifications of pathogenicity
Select item 809934	NM_000287.4(PEX6):c.2875C>T (p.Gln959Ter)	PEX6 (Q959* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1534600	NM_000287.4(PEX6):c.2874G>C (p.Leu958=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1506606	NM_000287.4(PEX6):c.2873T>G (p.Leu958Arg)	PEX6 (L958R +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1591417	NM_000287.4(PEX6):c.2871G>A (p.Arg957=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1363664	NM_000287.4(PEX6):c.2870G>A (p.Arg957Gln)	PEX6 (R957Q +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1307510	NM_000287.4(PEX6):c.2869C>T (p.Arg957Trp)	PEX6 (R869W +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder +1 more	GUncertain significance
Select item 502346	NM_000287.4(PEX6):c.2867C>T (p.Ala956Val)	PEX6 (A956V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GLikely benign
Select item 1008571	NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser)	PEX6 (A868S +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 657186	NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr)	PEX6 (A868T +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 4B +1 more	GUncertain significance
Select item 1125969	NM_000287.4(PEX6):c.2865C>T (p.Ala955=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	PEX6-related disorder +1 more	GLikely benign
Select item 2166003	NM_000287.4(PEX6):c.2862T>G (p.Ala954=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2181111	NM_000287.4(PEX6):c.2861C>T (p.Ala954Val)	PEX6 (A866V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2021923	NM_000287.4(PEX6):c.2856G>A (p.Leu952=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1079984	NM_000287.4(PEX6):c.2854C>T (p.Leu952=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Heimler syndrome 2 +3 more	GLikely benign
Select item 1571064	NM_000287.4(PEX6):c.2850C>T (p.Asp950=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1488597	NM_000287.4(PEX6):c.2850C>G (p.Asp950Glu)	PEX6 (D862E +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1958128	NM_000287.4(PEX6):c.2847G>A (p.Glu949=)	PEX6	Single nucleotide variant (non-coding transcript variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2116121	NM_000287.4(PEX6):c.2845G>A (p.Glu949Lys)	PEX6 (E861K +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2166694	NM_000287.4(PEX6):c.2842A>G (p.Met948Val)	PEX6 (M948V +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1079758	NM_000287.4(PEX6):c.2838C>T (p.Leu946=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1582353	NM_000287.4(PEX6):c.2830C>T (p.Leu944=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1346508	NM_000287.4(PEX6):c.2830C>A (p.Leu944Met)	PEX6 (L856M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 2827708	NM_000287.4(PEX6):c.2829A>C (p.Ala943=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1609168	NM_000287.4(PEX6):c.2826A>G (p.Ser942=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2570594	NM_000287.4(PEX6):c.2814_2816delinsACA (p.Pro939Gln)	PEX6 (P851Q +1 more)	Indel (missense variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2063024	NM_000287.4(PEX6):c.2814_2816delinsAGA (p.Pro939Glu)	PEX6 (P939E +1 more)	Indel (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1035564	NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg)	PEX6 (P851R +1 more)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 92787	NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)	PEX6 (P939Q +1 more)	Single nucleotide variant (missense variant +1 more)	Heimler syndrome 2 +5 more	GBenign
Select item 92786	NM_000287.4(PEX6):c.2814G>A (p.Glu938=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Heimler syndrome 2 +5 more	GBenign
Select item 2710991	NM_000287.4(PEX6):c.2811G>A (p.Leu937=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1590352	NM_000287.4(PEX6):c.2811G>T (p.Leu937=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 1995437	NM_000287.4(PEX6):c.2809C>T (p.Leu937=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2677692	NM_000287.4(PEX6):c.2807-2A>G	PEX6	Single nucleotide variant (splice acceptor variant)	Heimler syndrome 2	GPathogenic
Select item 1536966	NM_000287.4(PEX6):c.2807-4C>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2021500	NM_000287.4(PEX6):c.2807-5T>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1112035	NM_000287.4(PEX6):c.2807-8A>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2018171	NM_000287.4(PEX6):c.2807-14C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1543518	NM_000287.4(PEX6):c.2807-15_2807-14delinsAT	PEX6	Indel (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2716427	NM_000287.4(PEX6):c.2807-16A>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2914265	NM_000287.4(PEX6):c.2807-17C>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2161255	NM_000287.4(PEX6):c.2807-17C>G	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2032433	NM_000287.4(PEX6):c.2807-19C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1134738	NM_000287.4(PEX6):c.2807-20C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1216451	NM_000287.4(PEX6):c.2806+78G>A	PEX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741525	NM_000287.4(PEX6):c.2806+15G>C	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1595295	NM_000287.4(PEX6):c.2806+15G>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 1658715	NM_000287.4(PEX6):c.2806+14C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GBenign
Select item 1090460	NM_000287.4(PEX6):c.2806+9C>A	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GLikely benign
Select item 2161894	NM_000287.4(PEX6):c.2806+6C>T	PEX6	Single nucleotide variant (intron variant)	Peroxisome biogenesis disorder	GUncertain significance
Select item 556094	NM_000287.4(PEX6):c.2806+1G>A	PEX6	Single nucleotide variant (splice donor variant)	Peroxisome biogenesis disorder 4A (Zellweger) +1 more	GLikely pathogenic
Select item 1406565	NM_000287.4(PEX6):c.2805A>G (p.Glu935=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GUncertain significance
Select item 1636601	NM_000287.4(PEX6):c.2802G>A (p.Glu934=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2163564	NM_000287.4(PEX6):c.2797C>T (p.Leu933=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign
Select item 2918939	NM_000287.4(PEX6):c.2790T>G (p.Val930=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Peroxisome biogenesis disorder	GLikely benign

<< First< Prev

Page of 18