ClinVar for Gene (Select 23214) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191259	NM_015171.4(XPO6):c.98A>G (p.Glu33Gly)	XPO6 (E33G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191258	NM_015171.4(XPO6):c.586G>A (p.Asp196Asn)	XPO6 (D182N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191256	NM_015171.4(XPO6):c.482G>A (p.Arg161His)	XPO6 (R161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191255	NM_015171.4(XPO6):c.2974G>A (p.Asp992Asn)	XPO6 (D978N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191254	NM_015171.4(XPO6):c.2746G>A (p.Ala916Thr)	XPO6 (A916T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191253	NM_015171.4(XPO6):c.1931G>A (p.Arg644Gln)	XPO6 (R630Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191252	NM_015171.4(XPO6):c.1591G>C (p.Val531Leu)	XPO6 (V531L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191251	NM_015171.4(XPO6):c.1463G>A (p.Arg488Gln)	XPO6 (R488Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191250	NM_015171.4(XPO6):c.1339G>A (p.Glu447Lys)	XPO6 (E433K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191249	NM_015171.4(XPO6):c.1189T>C (p.Phe397Leu)	XPO6 (F397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624150	NM_015171.4(XPO6):c.1316A>T (p.Lys439Met)	XPO6 (K425M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2569650	NM_015171.4(XPO6):c.2540G>A (p.Arg847Gln)	XPO6 (R833Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557839	NM_015171.4(XPO6):c.1409T>G (p.Leu470Arg)	XPO6 (L470R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516070	NM_015171.4(XPO6):c.2281G>T (p.Asp761Tyr)	XPO6 (D747Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514282	NM_015171.4(XPO6):c.566G>A (p.Gly189Asp)	XPO6 (G175D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457571	NM_015171.4(XPO6):c.1940C>T (p.Thr647Met)	XPO6 (T633M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423886	NC_000016.9:g.(?_27441393)_(28899063_?)del	APOBR, ATP2A1 +18 more	Deletion	not provided	GUncertain significance
Select item 2423570	NC_000016.9:g.(?_27441393)_(29001333_?)del	APOBR, ATP2A1 +23 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 2397309	NM_015171.4(XPO6):c.2702A>G (p.Gln901Arg)	XPO6 (Q901R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353357	NM_015171.4(XPO6):c.1625C>T (p.Thr542Met)	XPO6 (T528M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322691	NM_015171.4(XPO6):c.2459T>G (p.Val820Gly)	XPO6 (V806G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310365	NM_015171.4(XPO6):c.1102A>G (p.Ile368Val)	XPO6 (I354V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244503	NM_015171.4(XPO6):c.928G>C (p.Val310Leu)	XPO6 (V310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235217	NM_015171.4(XPO6):c.2171G>A (p.Arg724Gln)	XPO6 (R710Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234877	NM_015171.4(XPO6):c.2940C>G (p.Ile980Met)	XPO6 (I980M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217185	NM_015171.4(XPO6):c.626C>T (p.Pro209Leu)	XPO6 (P209L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213144	NM_015171.4(XPO6):c.703A>T (p.Ile235Phe)	XPO6 (I221F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210972	NM_015171.4(XPO6):c.640A>T (p.Ser214Cys)	XPO6 (S214C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204546	NM_015171.4(XPO6):c.2371G>A (p.Val791Ile)	XPO6 (V791I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 768768	NM_015171.4(XPO6):c.2661G>A (p.Arg887=)	XPO6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443086	GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4	APOBR, AQP8 +44 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 59990	GRCh38/hg38 16p12.1-11.2(chr16:28061312-28584375)x3	APOBR, CLN3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 59989	GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3	C16orf82, GSG1L +59 more	Copy number gain	See cases	GUncertain significance
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 65