GALNT3[gene] - ClinVar - NCBI

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	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 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 57318	GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1	BAZ2B, BAZ2B-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 60245	GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1	COBLL1, CSRNP3 +38 more	Copy number loss	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 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 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 144471	GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3	B3GALT1, CSRNP3 +25 more	Copy number gain	See cases	GPathogenic
Select item 153729	GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3	CSRNP3, GALNT3 +9 more	Copy number gain	See cases	GLikely pathogenic
Select item 1707403	GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1	CSRNP3, GALNT3 +15 more	Copy number loss	Epilepsy of infancy with migrating focal seizures	GPathogenic
Select item 652948	NC_000002.12:g.(?_165090130)_(166286643_?)del	GALNT3, LOC100506124 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 651833	NC_000002.12:g.(?_165090130)_(166311776_?)del	CSRNP3, GALNT3 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 530654	NC_000002.12:g.(?_165090130)_(166228992_?)del	CSRNP3, GALNT3 +17 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 155321	GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1	CSRNP3, GALNT3 +16 more	Copy number loss	See cases	GPathogenic
Select item 153359	GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1	CSRNP3, GALNT3 +14 more	Copy number loss	See cases	GPathogenic
Select item 1707404	GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1	B3GALT1, CSRNP3 +22 more	Copy number loss	West syndrome	GPathogenic
Select item 655230	NC_000002.11:g.(?_166152314)_(167108415_?)dup	CSRNP3, LOC102724058 +14 more	Duplication	Neuropathy, hereditary sensory and autonomic, type 2A +2 more	GUncertain significance
Select item 146138	GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 58906	GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3	CSRNP3, GALNT3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 331769	NM_004482.4(GALNT3):c.*937C>T	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 331770	NM_004482.4(GALNT3):c.*934dup	GALNT3	Duplication (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	GUncertain significance
Select item 331771	NM_004482.4(GALNT3):c.*897T>C	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 331772	NM_004482.4(GALNT3):c.*870A>T	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 894027	NM_004482.4(GALNT3):c.*806G>A	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 331773	NM_004482.4(GALNT3):c.*783A>G	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GBenign
Select item 331774	NM_004482.4(GALNT3):c.*515G>A	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GBenign
Select item 331775	NM_004482.4(GALNT3):c.*308TA[7]	GALNT3	Microsatellite (3 prime UTR variant)	Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	GUncertain significance
Select item 331776	NM_004482.4(GALNT3):c.*319A>C	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 331777	NM_004482.4(GALNT3):c.*318T>G	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 331778	NM_004482.4(GALNT3):c.*281T>A	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1 +1 more	GBenign
Select item 894426	NM_004482.4(GALNT3):c.*186C>T	GALNT3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 331779	NM_004482.4(GALNT3):c.*143G>A	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 894427	NM_004482.4(GALNT3):c.*28G>T	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 331780	NM_004482.4(GALNT3):c.*27G>T	GALNT3	Single nucleotide variant (3 prime UTR variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 2818374	NM_004482.4(GALNT3):c.1899T>C (p.Asp633=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751199	NM_004482.4(GALNT3):c.1896T>C (p.Asn632=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2400711	NM_004482.4(GALNT3):c.1886T>G (p.Leu629Arg)	GALNT3 (L629R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715285	NM_004482.4(GALNT3):c.1870C>T (p.Leu624Phe)	GALNT3 (L624F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2186869	NM_004482.4(GALNT3):c.1857C>T (p.Asn619=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964210	NM_004482.4(GALNT3):c.1854C>T (p.Cys618=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3098163	NM_004482.4(GALNT3):c.1846G>A (p.Val616Met)	GALNT3 (V616M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1440558	NM_004482.4(GALNT3):c.1846G>T (p.Val616Leu)	GALNT3 (V616L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352858	NM_004482.4(GALNT3):c.1828G>A (p.Gly610Arg)	GALNT3 (G610R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773430	NM_004482.4(GALNT3):c.1827T>C (p.Asn609=)	GALNT3	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1 +1 more	GBenign/Likely benign
Select item 1640423	NM_004482.4(GALNT3):c.1821A>C (p.Ser607=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 597026	NM_004482.4(GALNT3):c.1820C>T (p.Ser607Leu)	GALNT3 (S607L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994740	NM_004482.4(GALNT3):c.1815C>T (p.Cys605=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787053	NM_004482.4(GALNT3):c.1789C>T (p.Leu597=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705778	NM_004482.4(GALNT3):c.1780-1G>A	GALNT3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2963287	NM_004482.4(GALNT3):c.1780-4C>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662035	NM_004482.4(GALNT3):c.1780-4C>T	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786236	NM_004482.4(GALNT3):c.1780-9T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321607	NM_004482.4(GALNT3):c.1780-29_1780-28insA	GALNT3	Insertion (intron variant)	not provided	GLikely benign
Select item 2826504	NM_004482.4(GALNT3):c.1779+20T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857923	NM_004482.4(GALNT3):c.1779+18A>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909048	NM_004482.4(GALNT3):c.1779+16T>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002504	NM_004482.4(GALNT3):c.1779+12C>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856579	NM_004482.4(GALNT3):c.1779+11G>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343858	NM_004482.4(GALNT3):c.1779+1G>C	GALNT3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 7795	NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter)	GALNT3 (Q592*)	Single nucleotide variant (nonsense)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GPathogenic
Select item 2973729	NM_004482.4(GALNT3):c.1773C>T (p.Ile591=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869619	NM_004482.4(GALNT3):c.1770G>A (p.Glu590=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877969	NM_004482.4(GALNT3):c.1761G>A (p.Gln587=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012464	NM_004482.4(GALNT3):c.1758G>A (p.Glu586=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849360	NM_004482.4(GALNT3):c.1728C>A (p.Tyr576Ter)	GALNT3 (Y576*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 892989	NM_004482.4(GALNT3):c.1724C>T (p.Thr575Ile)	GALNT3 (T575I)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 7803	NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly)	GALNT3 (C574G)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GPathogenic
Select item 2117964	NM_004482.4(GALNT3):c.1719A>G (p.Ala573=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919821	NM_004482.4(GALNT3):c.1711C>T (p.Leu571=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782738	NM_004482.4(GALNT3):c.1705G>A (p.Val569Ile)	GALNT3 (V569I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2151736	NM_004482.4(GALNT3):c.1704C>T (p.Leu568=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192673	NM_004482.4(GALNT3):c.1696C>T (p.Gln566Ter)	GALNT3 (Q566*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 284373	NM_004482.4(GALNT3):c.1694C>T (p.Ala565Val)	GALNT3 (A565V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892990	NM_004482.4(GALNT3):c.1691C>T (p.Ala564Val)	GALNT3 (A564V)	Single nucleotide variant (missense variant)	Tumoral calcinosis, hyperphosphatemic, familial, 1	GUncertain significance
Select item 2047486	NM_004482.4(GALNT3):c.1690G>A (p.Ala564Thr)	GALNT3 (A564T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603669	NM_004482.4(GALNT3):c.1689T>C (p.His563=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707591	NM_004482.4(GALNT3):c.1682G>C (p.Cys561Ser)	GALNT3 (C561S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2780010	NM_004482.4(GALNT3):c.1681T>A (p.Cys561Ser)	GALNT3 (C561S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2012872	NM_004482.4(GALNT3):c.1675G>T (p.Glu559Ter)	GALNT3 (E559*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1380324	NM_004482.4(GALNT3):c.1675G>C (p.Glu559Gln)	GALNT3 (E559Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957536	NM_004482.4(GALNT3):c.1674G>A (p.Lys558=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938562	NM_004482.4(GALNT3):c.1670A>G (p.Gln557Arg)	GALNT3 (Q557R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738290	NM_004482.4(GALNT3):c.1669C>T (p.Gln557Ter)	GALNT3 (Q557*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3098162	NM_004482.4(GALNT3):c.1658G>A (p.Arg553Gln)	GALNT3 (R553Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2784535	NM_004482.4(GALNT3):c.1647A>G (p.Gln549=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847266	NM_004482.4(GALNT3):c.1638C>T (p.Tyr546=)	GALNT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507043	NM_004482.4(GALNT3):c.1627-3T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2804509	NM_004482.4(GALNT3):c.1627-7T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2823643	NM_004482.4(GALNT3):c.1627-8T>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2724088	NM_004482.4(GALNT3):c.1627-10C>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917475	NM_004482.4(GALNT3):c.1627-13A>G	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796240	NM_004482.4(GALNT3):c.1627-16G>C	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798516	NM_004482.4(GALNT3):c.1627-20C>T	GALNT3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182877	NM_004482.4(GALNT3):c.1627-215C>T	GALNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251561	NM_004482.4(GALNT3):c.1626+310G>A	GALNT3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287991	NM_004482.4(GALNT3):c.1626+231_1626+234del	GALNT3	Deletion (intron variant)	not provided	GBenign
Select item 1252389	NM_004482.4(GALNT3):c.1626+232_1626+234del	GALNT3	Deletion (intron variant)	not provided	GBenign
Select item 1225987	NM_004482.4(GALNT3):c.1626+233_1626+234del	GALNT3	Deletion (intron variant)	not provided	GBenign
Select item 1204876	NM_004482.4(GALNT3):c.1626+230_1626+234del	GALNT3	Deletion (intron variant)	not provided	GLikely benign
Select item 1198852	NM_004482.4(GALNT3):c.1626+234del	GALNT3	Deletion (intron variant)	not provided	GLikely benign

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