ST6GALNAC5[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 150045	GRCh38/hg38 1p31.1-22.2(chr1:76419302-88628464)x1	ADGRL2, ADGRL4 +241 more	Copy number loss	See cases	GPathogenic
Select item 780770	NM_030965.3(ST6GALNAC5):c.16-5C>T	LOC129930783, ST6GALNAC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3170687	NM_030965.3(ST6GALNAC5):c.20A>G (p.His7Arg)	LOC129930783, ST6GALNAC5 (H7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170695	NM_030965.3(ST6GALNAC5):c.73G>A (p.Val25Met)	LOC129930783, ST6GALNAC5 (V25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170686	NM_030965.3(ST6GALNAC5):c.154G>A (p.Ala52Thr)	ST6GALNAC5 (A52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354654	NM_030965.3(ST6GALNAC5):c.166T>C (p.Ser56Pro)	ST6GALNAC5 (S56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322964	NM_030965.3(ST6GALNAC5):c.202C>T (p.Pro68Ser)	ST6GALNAC5 (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170688	NM_030965.3(ST6GALNAC5):c.224G>T (p.Arg75Leu)	ST6GALNAC5 (R75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524984	NM_030965.3(ST6GALNAC5):c.325C>T (p.Arg109Trp)	ST6GALNAC5 (R109W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408995	NM_030965.3(ST6GALNAC5):c.346C>A (p.Gln116Lys)	ST6GALNAC5 (Q116K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170689	NM_030965.3(ST6GALNAC5):c.364C>T (p.Arg122Cys)	ST6GALNAC5 (R122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213311	NM_030965.3(ST6GALNAC5):c.376G>A (p.Ala126Thr)	ST6GALNAC5 (A126T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 784950	NM_030965.3(ST6GALNAC5):c.381C>T (p.Pro127=)	ST6GALNAC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3170690	NM_030965.3(ST6GALNAC5):c.388G>A (p.Gly130Ser)	ST6GALNAC5 (G130S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495549	NM_030965.3(ST6GALNAC5):c.460C>T (p.Arg154Cys)	ST6GALNAC5 (R154C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489667	NM_030965.3(ST6GALNAC5):c.461G>A (p.Arg154His)	ST6GALNAC5 (R154H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322965	NM_030965.3(ST6GALNAC5):c.463A>T (p.Asn155Tyr)	ST6GALNAC5 (N155Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170692	NM_030965.3(ST6GALNAC5):c.492G>C (p.Gln164His)	ST6GALNAC5 (Q164H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489403	NM_030965.3(ST6GALNAC5):c.541G>A (p.Gly181Ser)	ST6GALNAC5 (G181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557589	NM_030965.3(ST6GALNAC5):c.557A>G (p.Tyr186Cys)	ST6GALNAC5 (Y186C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554392	NM_030965.3(ST6GALNAC5):c.564C>G (p.Asn188Lys)	ST6GALNAC5 (N188K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170693	NM_030965.3(ST6GALNAC5):c.571C>T (p.Leu191Phe)	ST6GALNAC5 (L191F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518325	NM_030965.3(ST6GALNAC5):c.583G>C (p.Val195Leu)	ST6GALNAC5 (V195L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512073	NM_030965.3(ST6GALNAC5):c.607A>G (p.Met203Val)	ST6GALNAC5 (M203V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170694	NM_030965.3(ST6GALNAC5):c.629T>A (p.Leu210Gln)	ST6GALNAC5 (L210Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275734	NM_030965.3(ST6GALNAC5):c.737A>G (p.Asp246Gly)	ST6GALNAC5 (D246G)	Single nucleotide variant (stop lost +2 more)	not specified	GUncertain significance
Select item 3170696	NM_030965.3(ST6GALNAC5):c.863G>A (p.Arg288Gln)	ST6GALNAC5 (R288Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170697	NM_030965.3(ST6GALNAC5):c.883C>T (p.His295Tyr)	ST6GALNAC5 (H295Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3170698	NM_030965.3(ST6GALNAC5):c.892A>G (p.Ile298Val)	ST6GALNAC5 (I298V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285605	NM_030965.3(ST6GALNAC5):c.938T>C (p.Ile313Thr)	ST6GALNAC5 (I313T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474463	NM_030965.3(ST6GALNAC5):c.948T>G (p.Phe316Leu)	ST6GALNAC5 (F316L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3024572	GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1	ACADM, ADGRL2 +52 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685466	GRCh37/hg19 1p31.1(chr1:77125502-77546779)x1	ST6GALNAC5	Copy number loss	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 814104	GRCh37/hg19 1p31.1(chr1:76862304-77444407)x1	ST6GALNAC5, ST6GALNAC3	Copy number loss	not provided	GUncertain significance
Select item 686757	GRCh37/hg19 1p31.1(chr1:77153809-78015058)x3	AK5, PIGK +1 more	Copy number gain	not provided	GUncertain significance
Select item 685733	GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1	ACADM, ADGRL2 +65 more	Copy number loss	not provided	GPathogenic
Select item 684460	Single allele	ACADM, ADGRL2 +85 more	Deletion	not provided	Gnot provided
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 625763	GRCh37/hg19 1p31.1(chr1:71410579-78131158)	ACADM, AK5 +21 more	Copy number gain	not provided	GPathogenic
Select item 493562	GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3	ACADM, ASB17 +14 more	Copy number gain	not provided	GUncertain significance
Select item 443881	GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1	ACADM, AK5 +7 more	Copy number loss	See cases	GLikely pathogenic
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 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 441757	GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3	ACADM, ADGRL4 +24 more	Copy number gain	See cases	GUncertain significance
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 51