GAL3ST2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 58914	GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1	ATG4B, BOK +56 more	Copy number loss	See cases	GPathogenic
Select item 144757	GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1	ATG4B, BOK +44 more	Copy number loss	See cases	GUncertain significance
Select item 144361	GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3	ATG4B, BOK +39 more	Copy number gain	See cases	GUncertain significance
Select item 153126	GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1	ATG4B, BOK +32 more	Copy number loss	See cases	GUncertain significance
Select item 57280	GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1	ATG4B, D2HGDH +29 more	Copy number loss	See cases	GUncertain significance
Select item 144276	GRCh38/hg38 2q37.3(chr2:241770998-241996090)x1	FAM240C, GAL3ST2 +9 more	Copy number loss	See cases	GBenign
Select item 2362655	NM_022134.3(GAL3ST2):c.14T>A (p.Leu5Gln)	GAL3ST2 (L5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218793	NM_022134.3(GAL3ST2):c.29+1G>A	GAL3ST2	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2365632	NM_022134.3(GAL3ST2):c.38G>A (p.Arg13Gln)	GAL3ST2 (R13Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2221189	NM_022134.3(GAL3ST2):c.98C>T (p.Ser33Leu)	GAL3ST2 (S33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280490	NM_022134.3(GAL3ST2):c.166T>C (p.Phe56Leu)	GAL3ST2 (F56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318476	NM_022134.3(GAL3ST2):c.173A>C (p.Lys58Thr)	GAL3ST2 (K58T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 190940	NM_022134.3(GAL3ST2):c.197C>T (p.Thr66Met)	GAL3ST2 (T66M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2346812	NM_022134.3(GAL3ST2):c.200T>C (p.Val67Ala)	GAL3ST2 (V67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097991	NM_022134.3(GAL3ST2):c.301C>T (p.Arg101Cys)	GAL3ST2 (R101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280488	NM_022134.3(GAL3ST2):c.313G>A (p.Gly105Ser)	GAL3ST2 (G105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454709	NM_022134.3(GAL3ST2):c.316G>A (p.Val106Met)	GAL3ST2 (V106M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097992	NM_022134.3(GAL3ST2):c.382A>G (p.Lys128Glu)	GAL3ST2 (K128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483502	NM_022134.3(GAL3ST2):c.442G>A (p.Glu148Lys)	GAL3ST2 (E148K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310969	NM_022134.3(GAL3ST2):c.473C>T (p.Ala158Val)	GAL3ST2 (A158V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603213	NM_022134.3(GAL3ST2):c.550C>G (p.Leu184Val)	GAL3ST2 (L184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399466	NM_022134.3(GAL3ST2):c.623G>C (p.Gly208Ala)	GAL3ST2 (G208A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592262	NM_022134.3(GAL3ST2):c.682G>A (p.Glu228Lys)	GAL3ST2 (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309351	NM_022134.3(GAL3ST2):c.698C>G (p.Ser233Cys)	GAL3ST2 (S233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280489	NM_022134.3(GAL3ST2):c.703G>C (p.Val235Leu)	GAL3ST2 (V235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271353	NM_022134.3(GAL3ST2):c.718C>T (p.Arg240Trp)	GAL3ST2 (R240W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248309	NM_022134.3(GAL3ST2):c.728G>T (p.Trp243Leu)	GAL3ST2 (W243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396323	NM_022134.3(GAL3ST2):c.793T>G (p.Ser265Ala)	GAL3ST2 (S265A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377747	NM_022134.3(GAL3ST2):c.799G>A (p.Glu267Lys)	GAL3ST2 (E267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097993	NM_022134.3(GAL3ST2):c.913G>T (p.Gly305Trp)	GAL3ST2 (G305W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521140	NM_022134.3(GAL3ST2):c.932G>T (p.Arg311Leu)	GAL3ST2 (R311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598471	NM_022134.3(GAL3ST2):c.938G>A (p.Arg313Gln)	GAL3ST2 (R313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097994	NM_022134.3(GAL3ST2):c.962G>A (p.Cys321Tyr)	GAL3ST2 (C321Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097995	NM_022134.3(GAL3ST2):c.982C>T (p.Leu328Phe)	GAL3ST2 (L328F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097997	NM_022134.3(GAL3ST2):c.992A>C (p.His331Pro)	GAL3ST2, LOC110599582 (H331P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269016	NM_022134.3(GAL3ST2):c.998A>T (p.Gln333Leu)	GAL3ST2, LOC110599582 (Q333L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280487	NM_022134.3(GAL3ST2):c.1008C>A (p.Asp336Glu)	GAL3ST2, LOC110599582 (D336E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280486	NM_022134.3(GAL3ST2):c.1019G>A (p.Arg340His)	GAL3ST2, LOC110599582 (R340H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280484	NM_022134.3(GAL3ST2):c.1022C>T (p.Pro341Leu)	GAL3ST2, LOC110599582 (P341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097986	NM_022134.3(GAL3ST2):c.1040C>T (p.Ala347Val)	GAL3ST2, LOC110599582 (A347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097987	NM_022134.3(GAL3ST2):c.1059C>A (p.Asn353Lys)	GAL3ST2, LOC110599582 (N353K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097988	NM_022134.3(GAL3ST2):c.1124A>G (p.Gln375Arg)	GAL3ST2, LOC110599582 (Q375R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245786	NM_022134.3(GAL3ST2):c.1129A>C (p.Met377Leu)	GAL3ST2, LOC110599582 (M377L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454766	NM_022134.3(GAL3ST2):c.1157C>G (p.Pro386Arg)	GAL3ST2, LOC110599582 (P386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097989	NM_022134.3(GAL3ST2):c.1163A>C (p.Lys388Thr)	GAL3ST2, LOC110599582 (K388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097990	NM_022134.3(GAL3ST2):c.1181C>G (p.Pro394Arg)	GAL3ST2, LOC110599582 (P394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247415	NC_000002.11:g.(?_237481970)_(242801596_?)del	ACKR3, AGXT +55 more	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3242308	GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1	ACKR3, AGAP1 +60 more	Copy number loss	not provided	GPathogenic
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3148872	GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1	AGXT, ANKMY1 +35 more	Copy number loss	See cases	GPathogenic
Select item 3148868	GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1	ACKR3, AGAP1 +60 more	Copy number loss	See cases	GPathogenic
Select item 3062657	GRCh37/hg19 2q37.3(chr2:242539055-242783384)x3	ATG4B, D2HGDH +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062615	GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062606	GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1	ACKR3, AGAP1 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685891	GRCh37/hg19 2q37.3(chr2:242589861-242783384)x3	ATG4B, D2HGDH +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2684986	GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1	AQP12A, AGXT +51 more	Copy number loss	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic

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