SP3[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 57130	GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1	ATP5MC3, ATF2 +159 more	Copy number loss	See cases	GPathogenic
Select item 58767	GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1	AGPS, ATF2 +150 more	Copy number loss	See cases	GPathogenic
Select item 58768	GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1	ATF2, ATP5MC3 +68 more	Copy number loss	See cases	GPathogenic
Select item 154811	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1	ATF2, ATP5MC3 +66 more	Copy number loss	See cases	GPathogenic
Select item 149687	GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3	ATF2, ATP5MC3 +66 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 2339266	NM_003111.5(SP3):c.2338A>G (p.Met780Val)	SP3 (M712V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492266	NM_003111.5(SP3):c.2282T>C (p.Ile761Thr)	SP3 (I761T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400883	NM_003111.5(SP3):c.2263G>A (p.Ala755Thr)	SP3 (A755T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2222515	NM_003111.5(SP3):c.2240G>A (p.Gly747Glu)	SP3 (G747E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167904	NM_003111.5(SP3):c.2226A>C (p.Gln742His)	SP3 (Q674H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278403	NM_003111.5(SP3):c.2188G>T (p.Ala730Ser)	SP3 (A662S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775785	NM_003111.5(SP3):c.2142A>C (p.Thr714=)	SP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 932093	NM_003111.5(SP3):c.2105del (p.Thr702fs)	SP3 (T702fs +2 more)	Deletion (frameshift variant)	See cases	GUncertain significance
Select item 3167902	NM_003111.5(SP3):c.2099T>C (p.Ile700Thr)	SP3 (I700T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167901	NM_003111.5(SP3):c.1774G>A (p.Gly592Arg)	SP3 (G524R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557979	NM_003111.5(SP3):c.1772A>G (p.Glu591Gly)	SP3 (E588G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716904	NM_003111.5(SP3):c.1725C>T (p.His575=)	SP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3167900	NM_003111.5(SP3):c.1683G>C (p.Gln561His)	SP3 (Q558H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610603	NM_003111.5(SP3):c.1585A>C (p.Ile529Leu)	SP3 (I526L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278373	NM_003111.5(SP3):c.1585A>G (p.Ile529Val)	SP3 (I461V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775786	NM_003111.5(SP3):c.1566A>G (p.Gln522=)	SP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545648	NM_003111.5(SP3):c.1492G>C (p.Gly498Arg)	SP3 (G498R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475737	NM_003111.5(SP3):c.1444A>G (p.Thr482Ala)	SP3 (T479A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321703	NM_003111.5(SP3):c.1436T>C (p.Ile479Thr)	SP3 (I411T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321705	NM_003111.5(SP3):c.1331A>G (p.Asn444Ser)	SP3 (N441S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220751	NM_003111.5(SP3):c.1261A>G (p.Ile421Val)	SP3 (I421V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616562	NM_003111.5(SP3):c.1121A>G (p.Gln374Arg)	SP3 (Q306R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242733	NM_003111.5(SP3):c.1094C>T (p.Ser365Phe)	SP3 (S297F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231253	NM_003111.5(SP3):c.1065C>G (p.Ser355Arg)	SP3 (S352R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601935	NM_003111.5(SP3):c.1029A>G (p.Ile343Met)	SP3 (I340M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591790	NM_003111.5(SP3):c.1025C>G (p.Thr342Arg)	SP3 (T274R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321706	NM_003111.5(SP3):c.962A>G (p.Asn321Ser)	SP3 (N253S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330020	NM_003111.5(SP3):c.911A>G (p.Asp304Gly)	SP3 (D301G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388569	NM_003111.5(SP3):c.880G>A (p.Gly294Arg)	SP3 (G226R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402419	NM_003111.5(SP3):c.743G>C (p.Gly248Ala)	SP3 (G180A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167910	NM_003111.5(SP3):c.698A>G (p.Gln233Arg)	SP3 (Q165R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383655	NM_003111.5(SP3):c.631A>C (p.Asn211His)	SP3 (N143H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525416	NM_003111.5(SP3):c.605G>A (p.Ser202Asn)	SP3 (S202N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266900	NM_003111.5(SP3):c.494T>A (p.Val165Glu)	SP3 (V162E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1243484	NM_003111.5(SP3):c.490A>G (p.Thr164Ala)	SP3 (T161A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2377134	NM_003111.5(SP3):c.460G>A (p.Val154Ile)	SP3 (V154I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262975	NM_003111.5(SP3):c.413A>C (p.Gln138Pro)	SP3 (Q138P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167909	NM_003111.5(SP3):c.346C>G (p.Pro116Ala)	SP3 (P113A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305061	NM_003111.5(SP3):c.344C>T (p.Thr115Ile)	SP3 (T112I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167908	NM_003111.5(SP3):c.343A>G (p.Thr115Ala)	SP3 (T112A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271386	NM_003111.5(SP3):c.316C>T (p.Pro106Ser)	SP3 (P106S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278210	NM_003111.5(SP3):c.314C>G (p.Ala105Gly)	SP3 (A37G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167906	NM_003111.5(SP3):c.269C>T (p.Ala90Val)	SP3 (A87V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275223	NM_003111.5(SP3):c.265G>T (p.Ala89Ser)	SP3 (A21S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167905	NM_003111.5(SP3):c.257G>T (p.Gly86Val)	SP3 (G18V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321702	NM_003111.5(SP3):c.157G>C (p.Asp53His)	SP3 (D53H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526935	GRCh37/hg19 2q31.1(chr2:174573334-175268147)	CIR1, OLA1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526934	GRCh37/hg19 2q31.1(chr2:174562039-175276727)	CIR1, OLA1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339874	GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3	ATF2, ATP5MC3 +22 more	Copy number gain	not provided	Gnot provided
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814346	GRCh37/hg19 2q31.1(chr2:174562000-175276727)x1	CIR1, OLA1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 814344	GRCh37/hg19 2q31.1(chr2:173865202-175428639)x1	CDCA7, CIR1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 685829	GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1	AGPS, ATF2 +56 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 562664	GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1	AGPS, ATF2 +29 more	Copy number loss	not provided	GPathogenic
Select item 443305	GRCh37/hg19 2q31.1(chr2:174783555-176832848)x1	ATF2, ATP5MC3 +10 more	Copy number loss	See cases	GUncertain significance
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 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 253337	GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1	ATF2, ATP5MC3 +9 more	Copy number loss	See cases	GLikely pathogenic

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Items: 79