WIPI2[gene] - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58505	GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1	ACTB, FBXL18 +71 more	Copy number loss	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 150149	GRCh38/hg38 7p22.1(chr7:5089286-5331174)x1	LOC121144502, LOC123924895 +17 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 58507	GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1	ACTB, FBXL18 +69 more	Copy number loss	See cases	GPathogenic
Select item 151554	GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3	ACTB, FBXL18 +52 more	Copy number gain	See cases	GUncertain significance
Select item 146045	GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3	FBXL18, LINC02983 +19 more	Copy number gain	See cases	GUncertain significance
Select item 2671680	NM_015610.4(WIPI2):c.74+2T>G	LOC129997872, WIPI2	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with short stature and variable skeletal anomalies	GUncertain significance
Select item 2349589	NM_015610.4(WIPI2):c.76G>A (p.Glu26Lys)	WIPI2 (E26K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3038879	NM_015610.4(WIPI2):c.128+7T>G	WIPI2	Single nucleotide variant (5 prime UTR variant +1 more)	WIPI2-related disorder	GBenign
Select item 3333133	NM_015610.4(WIPI2):c.154G>T (p.Gly52Cys)	WIPI2 (G34C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190583	NM_015610.4(WIPI2):c.203A>C (p.Tyr68Ser)	WIPI2 (Y68S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333134	NM_015610.4(WIPI2):c.206A>C (p.Glu69Ala)	WIPI2 (E51A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057208	NM_015610.4(WIPI2):c.264G>A (p.Val88=)	WIPI2	Single nucleotide variant (synonymous variant +1 more)	WIPI2-related disorder	GBenign
Select item 3059558	NM_015610.4(WIPI2):c.273C>G (p.Val91=)	WIPI2	Single nucleotide variant (synonymous variant +1 more)	WIPI2-related disorder	GBenign
Select item 2612257	NM_015610.4(WIPI2):c.344A>G (p.Tyr115Cys)	WIPI2 (Y115C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 710689	NM_015610.4(WIPI2):c.382-9C>T	WIPI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716002	NM_015610.4(WIPI2):c.397C>T (p.Leu133=)	WIPI2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3190584	NM_015610.4(WIPI2):c.461C>T (p.Thr154Met)	WIPI2 (T136M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245653	NM_015610.4(WIPI2):c.535G>A (p.Ala179Thr)	WIPI2 (A179T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1315583	NM_015610.4(WIPI2):c.551T>G (p.Val184Gly)	WIPI2 (V184G +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with short stature and variable skeletal anomalies	GPathogenic
Select item 3059569	NM_015610.4(WIPI2):c.597G>A (p.Pro199=)	WIPI2	Single nucleotide variant (synonymous variant)	WIPI2-related disorder	GBenign
Select item 787847	NM_015610.4(WIPI2):c.624G>A (p.Leu208=)	WIPI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1030981	NM_015610.4(WIPI2):c.724C>T (p.Arg242Trp)	WIPI2 (R224W +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with short stature and variable skeletal anomalies	GUncertain significance
Select item 633591	NM_015610.4(WIPI2):c.745G>A (p.Val249Met)	WIPI2 (V249M +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with short stature and variable skeletal anomalies	GPathogenic
Select item 3033775	NM_015610.4(WIPI2):c.778G>A (p.Gly260Ser)	WIPI2 (G116S +3 more)	Single nucleotide variant (missense variant)	WIPI2-related disorder	GBenign
Select item 2657267	NM_015610.4(WIPI2):c.789C>T (p.Leu263=)	WIPI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3234734	NM_015610.4(WIPI2):c.831C>T (p.Leu277=)	WIPI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588350	NM_015610.4(WIPI2):c.944A>G (p.Asn315Ser)	WIPI2 (N297S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657268	NM_015610.4(WIPI2):c.966G>A (p.Thr322=)	WIPI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778276	NM_015610.4(WIPI2):c.996C>T (p.Asn332=)	WIPI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737614	NM_015610.4(WIPI2):c.1014-9T>G	WIPI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727096	NM_015610.4(WIPI2):c.1053C>T (p.Asp351=)	WIPI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3054261	NM_015610.4(WIPI2):c.1083C>A (p.Pro361=)	WIPI2	Single nucleotide variant (synonymous variant)	WIPI2-related disorder	GLikely benign
Select item 3190579	NM_015610.4(WIPI2):c.1102G>T (p.Ala368Ser)	WIPI2 (A309S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037593	NM_015610.4(WIPI2):c.1121+7C>G	WIPI2	Single nucleotide variant (intron variant)	WIPI2-related disorder	GBenign
Select item 2602526	NM_015610.4(WIPI2):c.1126G>C (p.Asp376His)	WIPI2 (D358H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333132	NM_015610.4(WIPI2):c.1139A>C (p.Glu380Ala)	WIPI2 (E236A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055920	NM_015610.4(WIPI2):c.1174G>A (p.Asp392Asn)	WIPI2 (D374N +3 more)	Single nucleotide variant (missense variant)	WIPI2-related disorder	GBenign
Select item 778277	NM_015610.4(WIPI2):c.1197A>G (p.Thr399=)	WIPI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3190580	NM_015610.4(WIPI2):c.1231C>A (p.Pro411Thr)	WIPI2 (P393T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773208	NM_015610.4(WIPI2):c.1267C>T (p.Leu423=)	WIPI2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 745846	NM_015610.4(WIPI2):c.1284C>T (p.Gly428=)	WIPI2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190581	NM_015610.4(WIPI2):c.1285G>A (p.Ala429Thr)	WIPI2 (A359T +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246711	NM_015610.4(WIPI2):c.1291C>G (p.Leu431Val)	WIPI2 (L413V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523626	NM_015610.4(WIPI2):c.1300G>A (p.Glu434Lys)	WIPI2 (E290K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049803	NM_015610.4(WIPI2):c.1309G>A (p.Ala437Thr)	WIPI2 (A293T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3190582	NM_015610.4(WIPI2):c.1316G>A (p.Arg439His)	WIPI2 (R410H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245749	NC_000007.13:g.(?_4815347)_(5792630_?)del	ACTB, AP5Z1 +11 more	Deletion	Baraitser-Winter syndrome 1	GUncertain significance
Select item 2684480	GRCh37/hg19 7p22.1(chr7:5222869-5427128)x3	SLC29A4, TNRC18 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684479	GRCh37/hg19 7p22.1(chr7:4909470-5331753)x3	MMD2, RADIL +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1809374	GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1	ACTB, AP5Z1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527334	GRCh37/hg19 7p22.1(chr7:5122619-5284485)	WIPI2	Copy number loss	not specified	GUncertain significance
Select item 1330190	GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1	ACTB, FBXL18 +5 more	Copy number loss	Autistic behavior +4 more	GPathogenic
Select item 980263	GRCh37/hg19 7p22.1(chr7:5132817-5284485)x1	WIPI2	Copy number loss	not provided	GUncertain significance
Select item 980258	GRCh37/hg19 7p22.1(chr7:5268201-5397816)x1	WIPI2, TNRC18 +1 more	Copy number loss	not provided	GUncertain significance
Select item 974756	NC_000007.13:g.5239584_5401976dup	SLC29A4, TNRC18 +1 more	Duplication	Megacolon	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 685097	GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3	WIPI2, ACTB +13 more	Copy number gain	not provided	GPathogenic
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 563309	GRCh37/hg19 7p22.1(chr7:5198327-5347753)x1	TNRC18, SLC29A4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 548976	GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3	AP5Z1, FOXK1 +8 more	Copy number gain	See cases	GLikely pathogenic
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442979	GRCh37/hg19 7p22.1(chr7:5268201-5803877)x3	ACTB, FBXL18 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

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Items: 93