ClinVar for Gene (Select 63917) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280538	NM_022087.4(GALNT11):c.611A>G (p.Glu204Gly)	GALNT11 (E123G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3280537	NM_022087.4(GALNT11):c.707C>T (p.Ala236Val)	GALNT11 (A137V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3280536	NM_022087.4(GALNT11):c.1079G>A (p.Arg360Gln)	GALNT11 (R279Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280535	NM_022087.4(GALNT11):c.529C>G (p.Arg177Gly)	GALNT11 (R78G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280534	NM_022087.4(GALNT11):c.838G>A (p.Asp280Asn)	GALNT11, LOC126860227 (D199N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280532	NM_022087.4(GALNT11):c.701C>T (p.Ala234Val)	GALNT11 (A135V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3280531	NM_022087.4(GALNT11):c.917C>T (p.Pro306Leu)	GALNT11, LOC126860227 (P207L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280530	NM_022087.4(GALNT11):c.1496G>A (p.Arg499His)	GALNT11 (R400H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280529	NM_022087.4(GALNT11):c.1774G>A (p.Ala592Thr)	GALNT11 (A493T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245940	NC_000007.13:g.(?_151716711)_(151927426_?)dup	GALNT11, GALNTL5 +1 more	Duplication	not provided	GUncertain significance
Select item 3245939	NC_000007.13:g.(?_151711709)_(151949820_?)dup	GALNT11, GALNTL5 +1 more	Duplication	not provided	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3098059	NM_022087.4(GALNT11):c.922T>C (p.Ser308Pro)	GALNT11, LOC126860227 (S308P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098058	NM_022087.4(GALNT11):c.774G>T (p.Leu258Phe)	GALNT11, LOC126860227 (L216F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098057	NM_022087.4(GALNT11):c.616G>A (p.Val206Ile)	GALNT11 (V206I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3098056	NM_022087.4(GALNT11):c.515A>G (p.His172Arg)	GALNT11 (H73R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098055	NM_022087.4(GALNT11):c.1756G>A (p.Gly586Ser)	GALNT11 (G585S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098054	NM_022087.4(GALNT11):c.1741G>A (p.Ala581Thr)	GALNT11 (A581T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098053	NM_022087.4(GALNT11):c.1730A>T (p.Gln577Leu)	GALNT11 (Q577L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3098052	NM_022087.4(GALNT11):c.1628G>A (p.Arg543His)	GALNT11 (R444H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098051	NM_022087.4(GALNT11):c.1627C>T (p.Arg543Cys)	GALNT11 (R444C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098049	NM_022087.4(GALNT11):c.1564A>T (p.Ile522Phe)	GALNT11 (I480F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	NDUFB2, NOBOX +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2560821	NM_022087.4(GALNT11):c.651A>G (p.Ile217Met)	GALNT11 (I136M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548336	NM_022087.4(GALNT11):c.1202G>A (p.Arg401Gln)	GALNT11 (R359Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535945	NM_022087.4(GALNT11):c.1412A>G (p.Asn471Ser)	GALNT11 (N390S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526016	NM_022087.4(GALNT11):c.432G>C (p.Lys144Asn)	GALNT11 (K45N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507862	NM_022087.4(GALNT11):c.386A>G (p.Tyr129Cys)	GALNT11 (Y129C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482755	NM_022087.4(GALNT11):c.1465C>A (p.Gln489Lys)	GALNT11 (Q390K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464032	NM_022087.4(GALNT11):c.298A>G (p.Met100Val)	GALNT11 (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2427459	NC_000007.13:g.(?_151704892)_(152373164_?)dup	GALNT11, GALNTL5 +2 more	Duplication	not provided	GUncertain significance
Select item 2427458	NC_000007.13:g.(?_150307047)_(152613597_?)del	ABCB8, ABCF2 +31 more	Deletion	not provided	GPathogenic
Select item 2427456	NC_000007.13:g.(?_151664332)_(151842400_?)dup	GALNT11, GALNTL5 +1 more	Duplication	not provided	GUncertain significance
Select item 2427455	NC_000007.13:g.(?_151680051)_(151856177_?)dup	GALNT11, GALNTL5 +1 more	Duplication	not provided	GUncertain significance
Select item 2425238	NC_000007.13:g.(?_150324807)_(152373164_?)dup	ABCB8, ABCF2 +30 more	Duplication	not provided	GUncertain significance
Select item 2425237	NC_000007.13:g.(?_150324807)_(152373164_?)del	ABCB8, ABCF2 +30 more	Deletion	not provided	GPathogenic
Select item 2403795	NM_022087.4(GALNT11):c.196G>C (p.Val66Leu)	GALNT11 (V66L)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2395152	NM_022087.4(GALNT11):c.1495C>T (p.Arg499Cys)	GALNT11 (R498C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365327	NM_022087.4(GALNT11):c.1822G>T (p.Gly608Cys)	GALNT11 (G527C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339160	NM_022087.4(GALNT11):c.926A>T (p.Glu309Val)	GALNT11, LOC126860227 (E210V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335442	NM_022087.4(GALNT11):c.667G>A (p.Glu223Lys)	GALNT11 (E223K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2310738	NM_022087.4(GALNT11):c.511G>A (p.Val171Met)	GALNT11 (V90M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291113	NM_022087.4(GALNT11):c.946G>A (p.Ala316Thr)	GALNT11, LOC126860227 (A235T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243647	NM_022087.4(GALNT11):c.182G>A (p.Arg61Gln)	GALNT11 (R61Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2235307	NM_022087.4(GALNT11):c.788G>A (p.Arg263His)	GALNT11, LOC126860227 (R164H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205052	NM_022087.4(GALNT11):c.19C>T (p.Arg7Trp)	GALNT11 (R7W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808403	GRCh37/hg19 7q36.1-36.2(chr7:151581341-153599029)x1	ACTR3B, GALNT11 +3 more	Copy number loss	not provided	GPathogenic
Select item 1807631	GRCh37/hg19 7q36.1-36.2(chr7:151265288-152929871)x3	ACTR3B, GALNT11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527414	GRCh37/hg19 7q36.1(chr7:151438850-151978522)	GALNTL5, GALNT11 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527413	GRCh37/hg19 7q36.1(chr7:151428750-152304246)	GALNT11, GALNTL5 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1342507	NC_000007.14:g.152052676_152295696del	GALNT11, KMT2C +4 more	Deletion	Kleefstra syndrome 2	GPathogenic
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341273	GRCh37/hg19 7q36.1(chr7:151716549-151808146)x1	GALNT11, GALNTL5	Copy number loss	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 1330211	GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1	ABCF2, AGAP3 +19 more	Copy number loss	Kleefstra syndrome 2	GPathogenic
Select item 1328456	GRCh37/hg19 7q36.1-36.2(chr7:151550461-153195115)x4	ACTR3B, GALNT11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1027137	NC_000007.13:g.(?_150642453)_(152373165_?)dup	RHEB, SLC4A2 +23 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1008074	NC_000007.13:g.(?_151262800)_(152373170_?)del	GALNT11, GALNTL5 +3 more	Deletion	Lethal congenital glycogen storage disease of heart	GUncertain significance
Select item 979806	GRCh37/hg19 7q36.1(chr7:151428750-151723874)x3	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 974752	NC_000007.13:g.151797921_152258693dup	GALNT11, KMT2C	Duplication	Megacolon	GUncertain significance
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 780727	NM_022087.4(GALNT11):c.451C>T (p.Pro151Ser)	GALNT11 (P151S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776276	NM_022087.4(GALNT11):c.1789G>A (p.Asp597Asn)	GALNT11 (D498N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 721662	NM_022087.4(GALNT11):c.53C>T (p.Ala18Val)	GALNT11 (A18V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 689226	GRCh37/hg19 7q36.1(chr7:151616311-152218244)x3	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 688351	GRCh37/hg19 7q36.1(chr7:151677556-152111868)x3	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687917	GRCh37/hg19 7q36.1(chr7:151581340-151925635)x4	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687627	GRCh37/hg19 7q36.1(chr7:151768932-152145034)x3	GALNT11, KMT2C	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686966	GRCh37/hg19 7q36.1-36.2(chr7:151699080-152779856)x3	ACTR3B, GALNT11 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686874	GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3	ABCB8, ABCF2 +40 more	Copy number gain	not provided	GUncertain significance
Select item 685820	GRCh37/hg19 7q36.1(chr7:151605007-152001188)x3	GALNT11, GALNTL5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 624493	GRCh37/hg19 7q36.1(chr7:151791313-151904513)x3	GALNT11, KMT2C	Copy number gain	not provided	GLikely benign
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 443708	GRCh37/hg19 7q36.1-36.3(chr7:151167135-159119707)x1	ACTR3B, CNPY1 +23 more	Copy number loss	See cases	GPathogenic
Select item 443611	GRCh37/hg19 7q36.1-36.2(chr7:151387196-154070094)x1	ACTR3B, GALNT11 +4 more	Copy number loss	See cases	GLikely pathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442890	GRCh37/hg19 7q36.1(chr7:151665824-152589802)x3	ACTR3B, GALNT11 +3 more	Copy number gain	See cases	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442820	GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3	ACTR3B, CNPY1 +22 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442404	GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3	ACTR3B, AGAP3 +43 more	Copy number gain	See cases	GLikely pathogenic

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