ClinVar for Gene (Select 51555) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305851	NM_016559.3(PEX5L):c.136A>T (p.Met46Leu)	PEX5L, PEX5L-AS2 (M101L +6 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3211518	NM_016559.3(PEX5L):c.676G>T (p.Ala226Ser)	PEX5L (A118S +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211517	NM_016559.3(PEX5L):c.488C>G (p.Thr163Ser)	PEX5L (T120S +10 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3211516	NM_016559.3(PEX5L):c.1400A>G (p.Gln467Arg)	PEX5L (Q400R +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3211515	NM_016559.3(PEX5L):c.130A>G (p.Met44Val)	PEX5L, PEX5L-AS2 (M1V +6 more)	Single nucleotide variant (non-coding transcript variant +4 more)	not specified	GUncertain significance
Select item 3211514	NM_016559.3(PEX5L):c.1094T>G (p.Phe365Cys)	PEX5L (F322C +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2591732	NM_016559.3(PEX5L):c.608C>A (p.Thr203Asn)	PEX5L (T258N +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557561	NM_016559.3(PEX5L):c.875G>A (p.Arg292Gln)	PEX5L (R100Q +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395664	NM_016559.3(PEX5L):c.926C>T (p.Ser309Leu)	PEX5L (S233L +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386518	NM_016559.3(PEX5L):c.916G>C (p.Val306Leu)	PEX5L (V114L +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372906	NM_016559.3(PEX5L):c.749G>A (p.Arg250His)	PEX5L (R142H +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367761	NM_016559.3(PEX5L):c.1180T>G (p.Leu394Val)	PEX5L (L202V +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344975	NM_016559.3(PEX5L):c.145A>C (p.Ile49Leu)	PEX5L, PEX5L-AS2 (I49L +6 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2320039	NM_016559.3(PEX5L):c.1474A>G (p.Arg492Gly)	PEX5L (R300G +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315722	NM_016559.3(PEX5L):c.1778C>G (p.Ala593Gly)	PEX5L (A401G +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304350	NM_016559.3(PEX5L):c.563C>A (p.Thr188Asn)	PEX5L (T129N +16 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251589	NM_016559.3(PEX5L):c.579G>A (p.Met193Ile)	PEX5L (M126I +17 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249852	NM_016559.3(PEX5L):c.1805A>C (p.Asp602Ala)	PEX5L (D494A +17 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237798	NM_016559.3(PEX5L):c.278C>T (p.Ala93Val)	PEX5L (A113V +10 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2220550	NM_016559.3(PEX5L):c.446C>T (p.Thr149Met)	PEX5L (T171M +10 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
Select item 980553	GRCh37/hg19 3q26.33(chr3:179016729-181527320)x1	MRPL47, DNAJC19 +12 more	Copy number loss	not provided	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 147701	GRCh38/hg38 3q26.33(chr3:179948335-180181559)x3	LOC129937988, LOC129937989 +1 more	Copy number gain	See cases	GBenign
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 12819	NC_000003.12:g.(179547548_181649736)_(181808821_182152788)del	LINC01206, ACTL6A +44 more	Deletion	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic

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Links from Gene

Items: 49