GSG1L[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 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 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
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 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
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 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 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 59989	GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3	C16orf82, GSG1L +59 more	Copy number gain	See cases	GUncertain significance
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 3102909	NM_001109763.2(GSG1L):c.965G>A (p.Arg322Gln)	GSG1L (R340Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599643	NM_001109763.2(GSG1L):c.883G>A (p.Glu295Lys)	GSG1L (E244K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282984	NM_001109763.2(GSG1L):c.880C>T (p.His294Tyr)	GSG1L (H139Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514204	NM_001109763.2(GSG1L):c.869T>C (p.Leu290Ser)	GSG1L (L239S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514013	NM_001109763.2(GSG1L):c.847G>A (p.Gly283Arg)	GSG1L (G232R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257946	NM_001109763.2(GSG1L):c.823C>T (p.Arg275Trp)	GSG1L (R275W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481568	NM_001109763.2(GSG1L):c.821T>C (p.Phe274Ser)	GSG1L (F119S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483384	NM_001109763.2(GSG1L):c.731C>T (p.Thr244Met)	GSG1L (T193M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102908	NM_001109763.2(GSG1L):c.710C>T (p.Thr237Met)	GSG1L (T237M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462050	NM_001109763.2(GSG1L):c.607A>G (p.Ser203Gly)	GSG1L (S152G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305155	NM_001109763.2(GSG1L):c.517A>G (p.Asn173Asp)	GSG1L (N173D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102907	NM_001109763.2(GSG1L):c.484C>T (p.His162Tyr)	GSG1L (H162Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490948	NM_001109763.2(GSG1L):c.475G>A (p.Glu159Lys)	GSG1L (E159K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2346322	NM_001109763.2(GSG1L):c.245C>G (p.Pro82Arg)	GSG1L (P82R)	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 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 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 1340384	GRCh37/hg19 16p12.1(chr16:27672420-27934033)x3	GSG1L, KATNIP	Copy number gain	not provided	GUncertain significance
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 979448	GRCh37/hg19 16p12.1(chr16:27277775-27814900)x3	IL4R, GTF3C1 +4 more	Copy number gain	not provided	GUncertain significance
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 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

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Items: 53