ClinVar for Gene (Select 89792) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280492	NM_033036.3(GAL3ST3):c.1114G>A (p.Gly372Ser)	GAL3ST3 (G372S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280491	NM_033036.3(GAL3ST3):c.1207G>A (p.Gly403Ser)	GAL3ST3 (G403S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098010	NM_033036.3(GAL3ST3):c.895G>T (p.Asp299Tyr)	GAL3ST3 (D299Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098009	NM_033036.3(GAL3ST3):c.818G>A (p.Ser273Asn)	GAL3ST3 (S273N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098008	NM_033036.3(GAL3ST3):c.697G>A (p.Glu233Lys)	GAL3ST3 (E233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098007	NM_033036.3(GAL3ST3):c.57A>T (p.Lys19Asn)	GAL3ST3 (K19N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098006	NM_033036.3(GAL3ST3):c.545C>T (p.Ala182Val)	GAL3ST3 (A182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098005	NM_033036.3(GAL3ST3):c.427C>T (p.Pro143Ser)	GAL3ST3 (P143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098004	NM_033036.3(GAL3ST3):c.353C>T (p.Pro118Leu)	GAL3ST3 (P118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098003	NM_033036.3(GAL3ST3):c.266G>A (p.Arg89His)	GAL3ST3 (R89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098002	NM_033036.3(GAL3ST3):c.19C>A (p.Arg7Ser)	GAL3ST3 (R7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098001	NM_033036.3(GAL3ST3):c.1231C>A (p.Pro411Thr)	GAL3ST3 (P411T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098000	NM_033036.3(GAL3ST3):c.1210G>A (p.Gly404Ser)	GAL3ST3 (G404S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097999	NM_033036.3(GAL3ST3):c.1162G>A (p.Glu388Lys)	GAL3ST3 (E388K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097998	NM_033036.3(GAL3ST3):c.1100A>G (p.Tyr367Cys)	GAL3ST3 (Y367C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2623149	NM_033036.3(GAL3ST3):c.835A>G (p.Ile279Val)	GAL3ST3 (I279V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621488	NM_033036.3(GAL3ST3):c.1226C>T (p.Pro409Leu)	GAL3ST3 (P409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556357	NM_033036.3(GAL3ST3):c.974G>A (p.Arg325His)	GAL3ST3 (R325H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549746	NM_033036.3(GAL3ST3):c.49C>G (p.Arg17Gly)	GAL3ST3 (R17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545408	NM_033036.3(GAL3ST3):c.772G>C (p.Asp258His)	GAL3ST3 (D258H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529744	NM_033036.3(GAL3ST3):c.1193A>C (p.Lys398Thr)	GAL3ST3 (K398T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529190	NM_033036.3(GAL3ST3):c.1199A>C (p.Lys400Thr)	GAL3ST3 (K400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519931	NM_033036.3(GAL3ST3):c.452T>G (p.Leu151Arg)	GAL3ST3 (L151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515737	NM_033036.3(GAL3ST3):c.1205G>A (p.Arg402Gln)	GAL3ST3 (R402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492232	NM_033036.3(GAL3ST3):c.937G>C (p.Gly313Arg)	GAL3ST3 (G313R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483292	NM_033036.3(GAL3ST3):c.1246C>T (p.Pro416Ser)	GAL3ST3 (P416S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476913	NM_033036.3(GAL3ST3):c.489C>G (p.Ser163Arg)	GAL3ST3 (S163R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2412582	NM_033036.3(GAL3ST3):c.1015G>A (p.Glu339Lys)	GAL3ST3 (E339K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317144	NM_033036.3(GAL3ST3):c.379G>C (p.Ala127Pro)	GAL3ST3 (A127P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311397	NM_033036.3(GAL3ST3):c.884C>G (p.Ala295Gly)	GAL3ST3 (A295G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271124	NM_033036.3(GAL3ST3):c.952G>A (p.Glu318Lys)	GAL3ST3 (E318K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261117	NM_033036.3(GAL3ST3):c.712G>A (p.Val238Ile)	GAL3ST3 (V238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257522	NM_033036.3(GAL3ST3):c.254G>A (p.Arg85His)	GAL3ST3 (R85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243157	NM_033036.3(GAL3ST3):c.685C>G (p.Arg229Gly)	GAL3ST3 (R229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233915	NM_033036.3(GAL3ST3):c.531C>A (p.Asn177Lys)	GAL3ST3 (N177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228842	NM_033036.3(GAL3ST3):c.920G>T (p.Arg307Leu)	GAL3ST3 (R307L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219958	NM_033036.3(GAL3ST3):c.77G>C (p.Gly26Ala)	GAL3ST3 (G26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 1293586	NM_033036.3(GAL3ST3):c.1065G>A (p.Pro355=)	GAL3ST3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1280819	NM_033036.3(GAL3ST3):c.405G>A (p.Ala135=)	GAL3ST3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1279065	NM_033036.3(GAL3ST3):c.1035C>T (p.Ala345=)	GAL3ST3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1277171	NM_033036.3(GAL3ST3):c.126-60C>A	GAL3ST3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273520	NM_033036.3(GAL3ST3):c.525A>G (p.Val175=)	GAL3ST3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1269158	NM_033036.3(GAL3ST3):c.*215G>A	GAL3ST3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1252674	NM_033036.3(GAL3ST3):c.125+275G>A	GAL3ST3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243418	NM_033036.3(GAL3ST3):c.125+262_125+264del	GAL3ST3	Deletion (intron variant)	not provided	GBenign
Select item 1240002	NM_033036.3(GAL3ST3):c.125+153T>C	GAL3ST3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223944	NM_033036.3(GAL3ST3):c.*103G>T	GAL3ST3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1179723	NM_033036.3(GAL3ST3):c.1229A>C (p.Glu410Ala)	GAL3ST3 (E410A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 993346	NM_033036.3(GAL3ST3):c.1296A>G (p.Ter432Trp)	GAL3ST3	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 731442	NM_033036.3(GAL3ST3):c.234G>C (p.Thr78=)	GAL3ST3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	B4GAT1, BRMS1 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 63