PHAX[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 148931	GRCh38/hg38 5q23.2(chr5:125372857-126839014)x3	ALDH7A1, GRAMD2B +27 more	Copy number gain	See cases	GUncertain significance
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 58357	GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1	ALDH7A1, C5orf63 +49 more	Copy number loss	See cases	GPathogenic
Select item 1342147	NC_000005.10:g.126508361_126769360del	ALDH7A1, LMNB1 +9 more	Deletion	Adult-onset autosomal dominant demyelinating leukodystrophy	GPathogenic
Select item 3211963	NM_032177.4(PHAX):c.23T>G (p.Met8Arg)	PHAX (M8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232275	NM_032177.4(PHAX):c.25G>A (p.Glu9Lys)	PHAX (E9K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399820	NM_032177.4(PHAX):c.32G>A (p.Gly11Glu)	PHAX (G11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381605	NM_032177.4(PHAX):c.55G>T (p.Asp19Tyr)	PHAX (D19Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211962	NM_032177.4(PHAX):c.138C>G (p.Asn46Lys)	PHAX (N46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545020	NM_032177.4(PHAX):c.140C>T (p.Thr47Met)	PHAX (T47M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349837	NM_032177.4(PHAX):c.185G>A (p.Ser62Asn)	PHAX (S62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489824	NM_032177.4(PHAX):c.251G>A (p.Arg84Gln)	PHAX (R84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 691477	NM_032177.4(PHAX):c.379C>T (p.Gln127Ter)	PHAX (Q127*)	Single nucleotide variant (nonsense)	Aganglionic megacolon	GUncertain significance
Select item 2382766	NM_032177.4(PHAX):c.382G>A (p.Asp128Asn)	PHAX (D128N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211965	NM_032177.4(PHAX):c.417G>C (p.Met139Ile)	PHAX (M139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723334	NM_032177.4(PHAX):c.447C>T (p.Ser149=)	PHAX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3211966	NM_032177.4(PHAX):c.530A>C (p.Glu177Ala)	PHAX (E177A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216702	NM_032177.4(PHAX):c.790G>A (p.Glu264Lys)	PHAX (E264K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211967	NM_032177.4(PHAX):c.796G>A (p.Ala266Thr)	PHAX (A266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261462	NM_032177.4(PHAX):c.821T>G (p.Leu274Arg)	PHAX (L274R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211961	NM_032177.4(PHAX):c.1037A>G (p.Asp346Gly)	PHAX (D346G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062826	GRCh37/hg19 5q23.2-23.3(chr5:125506060-128162785)x3	ALDH7A1, C5orf63 +10 more	Copy number gain	not specified	GPathogenic
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1706508	GRCh37/hg19 5q23.2-23.3(chr5:124997035-128900524)x1	ADAMTS19, FBN2 +13 more	Copy number loss	See cases	GPathogenic
Select item 1705019	Single allele	ALDH7A1, PHAX	Deletion	Pyridoxine-dependent epilepsy	GPathogenic
Select item 1450758	NC_000005.9:g.(?_125880657)_(126171956_?)del	ALDH7A1, LMNB1 +2 more	Deletion	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARSK, CSNK1G3 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 42