GALNT11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
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 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	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 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999681, LOC129999682 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic
Select item 60312	GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1	LOC129999655, LOC129999656 +533 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 57408	GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1	ABCB8, ABCF2 +526 more	Copy number loss	See cases	GPathogenic
Select item 146558	GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3	ABCB8, ABCF2 +329 more	Copy number gain	See cases	GPathogenic
Select item 60313	GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1	ABCB8, ABCF2 +293 more	Copy number loss	See cases	GPathogenic
Select item 149569	GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3	ABCB8, ABCF2 +212 more	Copy number gain	See cases	GLikely pathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 150864	GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3	ABCB8, ABCF2 +205 more	Copy number gain	See cases	GUncertain significance
Select item 57001	GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1	ABCB8, ABCF2 +191 more	Copy number loss	See cases	GPathogenic
Select item 146852	GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1	ABCB8, ABCF2 +375 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 147505	GRCh38/hg38 7q36.1-36.3(chr7:151104277-159325876)x3	ABCF2, ABCF2-H2BK1 +315 more	Copy number gain	See cases	GPathogenic
Select item 145486	GRCh38/hg38 7q36.1-36.2(chr7:151214163-153187462)x1	ABCF2, ABCF2-H2BK1 +98 more	Copy number loss	See cases	GPathogenic
Select item 146896	GRCh38/hg38 7q36.1-36.3(chr7:151378879-158923762)x1	LOC129389944, LOC129389945 +271 more	Copy number loss	See cases	GPathogenic
Select item 154377	GRCh38/hg38 7q36.1-36.2(chr7:151424353-153358923)x1	ACTR3B, CRYGN +77 more	Copy number loss	See cases	GUncertain significance
Select item 155553	GRCh38/hg38 7q36.1(chr7:151843296-152652302)x3	GALNT11, GALNTL5 +30 more	Copy number gain	See cases	GLikely benign
Select item 154286	GRCh38/hg38 7q36.1(chr7:152019464-152555911)x3	GALNT11, GALNTL5 +18 more	Copy number gain	See cases	GUncertain significance
Select item 145890	GRCh38/hg38 7q36.1(chr7:152019833-152239007)x3	GALNT11, GALNTL5 +6 more	Copy number gain	See cases	GLikely benign
Select item 1342507	NC_000007.14:g.152052676_152295696del	GALNT11, KMT2C +4 more	Deletion	Kleefstra syndrome 2	GPathogenic
Select item 149977	GRCh38/hg38 7q36.1(chr7:152056713-152636746)x3	GALNT11, KMT2C +15 more	Copy number gain	See cases	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 152090	GRCh38/hg38 7q36.1(chr7:152107145-152507995)x3	GALNT11, KMT2C +15 more	Copy number gain	See cases	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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