SGO2[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 2349269	NM_152524.6(SGO2):c.95A>G (p.Asn32Ser)	SGO2 (N32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241217	NM_152524.6(SGO2):c.611C>T (p.Ser204Leu)	SGO2 (S204L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382479	NM_152524.6(SGO2):c.927T>A (p.Asn309Lys)	SGO2 (N309K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737298	NM_152524.6(SGO2):c.946A>G (p.Asn316Asp)	SGO2 (N316D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 737299	NM_152524.6(SGO2):c.1029G>T (p.Glu343Asp)	SGO2 (E343D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2402292	NM_152524.6(SGO2):c.1103C>G (p.Thr368Ser)	SGO2 (T368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737300	NM_152524.6(SGO2):c.1410A>C (p.Leu470=)	SGO2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 375672	NM_152524.6(SGO2):c.1453_1454del (p.Glu485fs)	SGO2 (E485fs)	Microsatellite (frameshift variant)	Premature ovarian failure	GPathogenic
Select item 2651811	NM_152524.6(SGO2):c.1946A>G (p.Lys649Arg)	SGO2 (K649R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3161040	NM_152524.6(SGO2):c.3121T>C (p.Cys1041Arg)	SGO2 (C1041R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232923	NM_152524.6(SGO2):c.3284T>A (p.Val1095Glu)	SGO2 (V1095E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344988	NM_152524.6(SGO2):c.3307G>A (p.Val1103Ile)	SGO2 (V1103I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404821	NM_152524.6(SGO2):c.3632G>A (p.Gly1211Asp)	SGO2 (G1211D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251033	NM_152524.6(SGO2):c.3756C>A (p.Phe1252Leu)	SGO2 (F1252L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 221794	GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3	NIF3L1, KCTD18 +13 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 375673	NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A	CLDN14, CLDN14-AS1 +1 more (V85D +1 more)	Single nucleotide variant (missense variant +1 more)	Perrault syndrome	GPathogenic

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Items: 48