ClinVar for Gene (Select 51523) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270434	NM_016463.9(CXXC5):c.331G>A (p.Ala111Thr)	CXXC5 (A111T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270433	NM_016463.9(CXXC5):c.368C>T (p.Ala123Val)	CXXC5 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270432	NM_016463.9(CXXC5):c.5C>T (p.Ser2Leu)	CXXC5 (S2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079242	NM_016463.9(CXXC5):c.598G>A (p.Glu200Lys)	CXXC5 (E200K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079241	NM_016463.9(CXXC5):c.566G>A (p.Gly189Asp)	CXXC5 (G189D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079240	NM_016463.9(CXXC5):c.530A>G (p.Gln177Arg)	CXXC5 (Q177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079239	NM_016463.9(CXXC5):c.37G>A (p.Gly13Ser)	CXXC5 (G13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079238	NM_016463.9(CXXC5):c.265G>A (p.Gly89Ser)	CXXC5 (G89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079237	NM_016463.9(CXXC5):c.211A>G (p.Lys71Glu)	CXXC5 (K71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079236	NM_016463.9(CXXC5):c.193A>C (p.Ile65Leu)	CXXC5 (I65L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079235	NM_016463.9(CXXC5):c.167C>A (p.Pro56His)	CXXC5 (P56H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079234	NM_016463.9(CXXC5):c.164C>A (p.Pro55His)	CXXC5 (P55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079233	NM_016463.9(CXXC5):c.133G>A (p.Ala45Thr)	CXXC5 (A45T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2655734	NM_016463.9(CXXC5):c.912C>T (p.Ser304=)	CXXC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 2409413	NM_016463.9(CXXC5):c.34G>A (p.Gly12Ser)	CXXC5 (G12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402819	NM_016463.9(CXXC5):c.505A>T (p.Thr169Ser)	CXXC5 (T169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363644	NM_016463.9(CXXC5):c.13G>A (p.Gly5Ser)	CXXC5 (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358532	NM_016463.9(CXXC5):c.295G>A (p.Gly99Arg)	CXXC5 (G99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349781	NM_016463.9(CXXC5):c.23C>A (p.Ser8Tyr)	CXXC5 (S8Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336206	NM_016463.9(CXXC5):c.809G>A (p.Arg270Gln)	CXXC5 (R270Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296112	NM_016463.9(CXXC5):c.481A>C (p.Thr161Pro)	CXXC5 (T161P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296111	NM_016463.9(CXXC5):c.377C>T (p.Ala126Val)	CXXC5 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277199	NM_016463.9(CXXC5):c.800C>T (p.Ala267Val)	CXXC5 (A267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208268	NM_016463.9(CXXC5):c.941C>T (p.Thr314Met)	CXXC5 (T314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340844	GRCh37/hg19 5q31.2(chr5:138675227-139314012)x1	CXXC5, DNAJC18 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	GFRA3, HARS1 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 685436	GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1	CTNNA1, CXXC5 +15 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563110	GRCh37/hg19 5q31.2(chr5:138390162-139160907)x3	CXXC5, DNAJC18 +11 more	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	POLR3G, POU4F3 +385 more	Deletion	Familial adenomatous polyposis 1 +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
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 147882	GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3	CXXC5, CXXC5-AS1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	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 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43