ClinVar for Gene (Select 84251) - ClinVar

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Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317926	NM_032291.4(SGIP1):c.830C>A (p.Ala277Asp)	SGIP1 (A253D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317925	NM_032291.4(SGIP1):c.1460C>T (p.Pro487Leu)	SGIP1 (P463L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317924	NM_032291.4(SGIP1):c.2057C>T (p.Thr686Ile)	SGIP1 (T467I +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317923	NM_032291.4(SGIP1):c.535T>C (p.Ser179Pro)	SGIP1 (S183P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317922	NM_032291.4(SGIP1):c.2144C>T (p.Thr715Met)	SGIP1 (T524M +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317921	NM_032291.4(SGIP1):c.1456A>G (p.Ser486Gly)	SGIP1 (S323G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317920	NM_032291.4(SGIP1):c.650T>C (p.Leu217Pro)	SGIP1 (L217P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317919	NM_032291.4(SGIP1):c.448C>G (p.Pro150Ala)	SGIP1 (P126A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317918	NM_032291.4(SGIP1):c.149G>A (p.Arg50His)	SGIP1 (R50H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3161014	NM_032291.4(SGIP1):c.953C>T (p.Thr318Ile)	SGIP1 (T318I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3161013	NM_032291.4(SGIP1):c.89G>C (p.Arg30Thr)	SGIP1 (R30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161012	NM_032291.4(SGIP1):c.838G>A (p.Val280Ile)	SGIP1 (V256I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3161011	NM_032291.4(SGIP1):c.533G>C (p.Arg178Pro)	SGIP1 (R154P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161010	NM_032291.4(SGIP1):c.505T>C (p.Ser169Pro)	SGIP1 (S169P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161007	NM_032291.4(SGIP1):c.359A>G (p.Lys120Arg)	SGIP1 (K120R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161006	NM_032291.4(SGIP1):c.22C>T (p.Arg8Cys)	SGIP1 (R8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161005	NM_032291.4(SGIP1):c.2275A>C (p.Ile759Leu)	SGIP1 (I757L +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161004	NM_032291.4(SGIP1):c.2135A>T (p.Asp712Val)	SGIP1 (D513V +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161003	NM_032291.4(SGIP1):c.2110C>T (p.Arg704Cys)	SGIP1 (R505C +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161002	NM_032291.4(SGIP1):c.205G>A (p.Ala69Thr)	SGIP1 (A69T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161001	NM_032291.4(SGIP1):c.2047A>G (p.Ile683Val)	SGIP1 (I486V +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3161000	NM_032291.4(SGIP1):c.2000C>T (p.Thr667Ile)	SGIP1 (T472I +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160999	NM_032291.4(SGIP1):c.1841G>A (p.Arg614Gln)	SGIP1 (R415Q +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160998	NM_032291.4(SGIP1):c.1579C>A (p.Gln527Lys)	SGIP1 (Q352K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160997	NM_032291.4(SGIP1):c.1125T>G (p.Asn375Lys)	SGIP1 (N375K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160996	NM_032291.4(SGIP1):c.1073C>T (p.Thr358Ile)	SGIP1 (T334I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621620	NM_032291.4(SGIP1):c.389T>C (p.Leu130Pro)	SGIP1 (L106P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619002	NM_032291.4(SGIP1):c.670T>G (p.Trp224Gly)	SGIP1 (W216G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613769	NM_032291.4(SGIP1):c.2110C>G (p.Arg704Gly)	SGIP1 (R513G +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611661	NM_032291.4(SGIP1):c.952A>G (p.Thr318Ala)	SGIP1 (T318A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611374	NM_032291.4(SGIP1):c.733A>G (p.Thr245Ala)	SGIP1 (T237A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599550	NM_032291.4(SGIP1):c.115G>A (p.Glu39Lys)	SGIP1 (E39K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543942	NM_032291.4(SGIP1):c.1919C>G (p.Ala640Gly)	SGIP1 (A443G +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538500	NM_032291.4(SGIP1):c.1069C>T (p.Pro357Ser)	SGIP1 (P357S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533499	NM_032291.4(SGIP1):c.1187C>A (p.Thr396Lys)	SGIP1 (T400K +2 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2517296	NM_032291.4(SGIP1):c.46C>T (p.Arg16Trp)	SGIP1 (R16W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493374	NM_032291.4(SGIP1):c.1088C>T (p.Pro363Leu)	SGIP1 (P363L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 2424397	NC_000001.10:g.(?_65299551)_(67861772_?)del	AK4, C1orf141 +14 more	Deletion	not provided	GPathogenic
Select item 2398248	NM_032291.4(SGIP1):c.1545G>C (p.Leu515Phe)	SGIP1 (L316F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393995	NM_032291.4(SGIP1):c.476G>A (p.Arg159His)	SGIP1 (R163H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383599	NM_032291.4(SGIP1):c.1602C>A (p.Asp534Glu)	SGIP1 (D343E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374050	NM_032291.4(SGIP1):c.1199C>A (p.Pro400His)	SGIP1 (P376H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369104	NM_032291.4(SGIP1):c.724C>T (p.Pro242Ser)	SGIP1 (P234S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364862	NM_032291.4(SGIP1):c.2266A>T (p.Ile756Phe)	SGIP1 (I583F +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319301	NM_032291.4(SGIP1):c.911T>C (p.Val304Ala)	SGIP1 (V280A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296390	NM_032291.4(SGIP1):c.1003T>C (p.Ser335Pro)	SGIP1 (S311P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286553	NM_032291.4(SGIP1):c.892G>T (p.Val298Leu)	SGIP1 (V298L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286399	NM_032291.4(SGIP1):c.1448G>A (p.Arg483Lys)	SGIP1 (R292K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276887	NM_032291.4(SGIP1):c.1699A>T (p.Thr567Ser)	SGIP1 (T372S +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266261	NM_032291.4(SGIP1):c.4A>G (p.Met2Val)	SGIP1 (M2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257016	NM_032291.4(SGIP1):c.40G>A (p.Gly14Arg)	SGIP1 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249556	NM_032291.4(SGIP1):c.1115C>G (p.Ser372Trp)	SGIP1 (S348W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234114	NM_032291.4(SGIP1):c.479G>T (p.Ser160Ile)	SGIP1 (S136I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226417	NM_032291.4(SGIP1):c.811C>T (p.Pro271Ser)	SGIP1 (P263S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223505	NM_032291.4(SGIP1):c.41G>C (p.Gly14Ala)	SGIP1 (G14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808872	GRCh37/hg19 1p31.3(chr1:66815031-67319280)x3	DNAI4, DYNLT5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527048	GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543)	SGIP1, SLC35D1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 791220	NM_032291.4(SGIP1):c.1290G>A (p.Ser430=)	SGIP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 686749	GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1	ACADM, ANKRD13C +39 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565106	GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1	SGIP1, JAK1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442708	GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1	ACADM, ADGRL2 +94 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	AK4, C1orf141 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 149153	GRCh38/hg38 1p31.3(chr1:66616829-66948603)x1	DNAI4, DYNLT5 +9 more	Copy number loss	See cases	GUncertain significance
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 81