ClinVar for Gene (Select 10559) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 134

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357705	NM_006416.5(SLC35A1):c.95G>A (p.Arg32Lys)	SLC35A1 (R32K)	Single nucleotide variant (missense variant)	SLC35A1-related disorder	GUncertain significance
Select item 3164309	NM_006416.5(SLC35A1):c.608A>G (p.Asp203Gly)	SLC35A1 (D203G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3062883	GRCh37/hg19 6q15(chr6:88039867-88305895)x1	C6orf163, CFAP206 +4 more	Copy number loss	not specified	GPathogenic
Select item 3043390	NM_006416.5(SLC35A1):c.141C>T (p.Ala47=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-related disorder	GLikely benign
Select item 2974340	NM_006416.5(SLC35A1):c.639G>A (p.Met213Ile)	SLC35A1 (M213I)	Single nucleotide variant (missense variant +1 more)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 2903816	NM_006416.5(SLC35A1):c.699T>C (p.Ile233=)	SLC35A1	Single nucleotide variant (synonymous variant +1 more)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2882899	NM_006416.5(SLC35A1):c.355-11_355-8del	SLC35A1	Deletion (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2839045	NM_006416.5(SLC35A1):c.300T>C (p.Val100=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2839009	NM_006416.5(SLC35A1):c.194+17A>G	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2779460	NM_006416.5(SLC35A1):c.195-16C>G	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 2603080	NM_006416.5(SLC35A1):c.142G>A (p.Val48Met)	SLC35A1 (V48M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426536	NC_000006.11:g.(?_88182722)_(88229994_?)dup	RARS2, SLC35A1	Duplication	not provided	GUncertain significance
Select item 2340044	NM_006416.5(SLC35A1):c.82A>G (p.Thr28Ala)	SLC35A1 (T28A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319459	NM_006416.5(SLC35A1):c.476A>G (p.Gln159Arg)	SLC35A1 (Q159R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314845	NM_006416.5(SLC35A1):c.775T>C (p.Tyr259His)	SLC35A1 (Y200H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303137	NM_006416.5(SLC35A1):c.833C>T (p.Ala278Val)	SLC35A1 (A219V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242985	NM_006416.5(SLC35A1):c.467C>T (p.Thr156Met)	SLC35A1 (T156M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227528	NM_006416.5(SLC35A1):c.442G>A (p.Val148Ile)	SLC35A1 (V148I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215269	NM_006416.5(SLC35A1):c.673G>A (p.Val225Ile)	SLC35A1 (V225I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2167680	NM_006416.5(SLC35A1):c.887-20A>T	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2166778	NM_006416.5(SLC35A1):c.963A>G (p.Thr321=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2064523	NM_006416.5(SLC35A1):c.7G>A (p.Ala3Thr)	SLC35A1 (A3T)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 2054723	NM_006416.5(SLC35A1):c.508-10A>G	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 2037368	NM_006416.5(SLC35A1):c.855T>G (p.Ile285Met)	SLC35A1 (I226M +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1976646	NM_006416.5(SLC35A1):c.523TTA[1] (p.Leu176del)	SLC35A1 (L176del)	Microsatellite (inframe_deletion)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1938456	NM_006416.5(SLC35A1):c.475C>T (p.Gln159Ter)	SLC35A1 (Q159*)	Single nucleotide variant (nonsense)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1913776	NM_006416.5(SLC35A1):c.574+17T>C	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 1808789	GRCh37/hg19 6q14.3-15(chr6:86098133-88663964)x3	AKIRIN2, C6orf163 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1703752	NM_006416.5(SLC35A1):c.439T>C (p.Ser147Pro)	SLC35A1 (S147P)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GPathogenic
Select item 1683937	NM_006416.5(SLC35A1):c.508-66G>A	SLC35A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676264	NM_006416.5(SLC35A1):c.379T>A (p.Cys127Ser)	SLC35A1 (C127S)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1643208	NM_006416.5(SLC35A1):c.887-9dup	SLC35A1	Duplication (intron variant)	SLC35A1-congenital disorder of glycosylation	GBenign
Select item 1624963	NM_006416.5(SLC35A1):c.16+19G>A	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GBenign
Select item 1579251	NM_006416.5(SLC35A1):c.752-7A>G	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1538858	NM_006416.5(SLC35A1):c.194+18T>C	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 1529750	NM_006416.5(SLC35A1):c.546T>C (p.Ala182=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1508884	NM_006416.5(SLC35A1):c.763G>C (p.Val255Leu)	SLC35A1 (V255L +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1457540	NC_000006.11:g.(?_88182712)_(88299760_?)del	RARS2, SLC35A1	Deletion	not provided	GPathogenic
Select item 1418148	NM_006416.5(SLC35A1):c.908C>G (p.Thr303Ser)	SLC35A1 (T244S +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1401885	NM_006416.5(SLC35A1):c.1007G>A (p.Gly336Asp)	SLC35A1 (G277D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1385696	NM_006416.5(SLC35A1):c.883A>C (p.Ile295Leu)	SLC35A1 (I236L +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 1379806	NM_006416.5(SLC35A1):c.171G>T (p.Leu57Phe)	SLC35A1 (L57F)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1321586	NM_006416.5(SLC35A1):c.507+59T>A	SLC35A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1297192	NM_006416.5(SLC35A1):c.16+21G>T	SLC35A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296501	NM_006416.5(SLC35A1):c.194+253C>T	SLC35A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296401	NM_006416.5(SLC35A1):c.16+306G>C	SLC35A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276097	NM_006416.5(SLC35A1):c.17-148A>G	SLC35A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259892	NC_000006.12:g.87472721T>C	SLC35A1	Single nucleotide variant	not provided	GBenign
Select item 1257149	NM_006416.5(SLC35A1):c.17-195GT[16]	SLC35A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1249328	NM_006416.5(SLC35A1):c.354+98del	SLC35A1	Deletion (intron variant)	not provided	GBenign
Select item 1248926	NM_006416.5(SLC35A1):c.17-149C>T	SLC35A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241321	NM_006416.5(SLC35A1):c.751+110_751+113del	SLC35A1	Deletion (intron variant)	not provided	GBenign
Select item 1225364	NM_006416.5(SLC35A1):c.575-121A>C	SLC35A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214775	NM_006416.5(SLC35A1):c.574+86T>C	SLC35A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212706	NM_006416.5(SLC35A1):c.886+144C>T	SLC35A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204615	NM_006416.5(SLC35A1):c.508-231C>T	SLC35A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198731	NM_006416.5(SLC35A1):c.17-195GT[13]	SLC35A1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1174350	NM_006416.5(SLC35A1):c.17-195GT[14]	SLC35A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1166554	NM_006416.5(SLC35A1):c.887-9del	SLC35A1	Deletion (intron variant)	SLC35A1-congenital disorder of glycosylation	GBenign
Select item 1115293	NM_006416.5(SLC35A1):c.752-9G>T	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 1106981	NM_006416.5(SLC35A1):c.378G>A (p.Pro126=)	SLC35A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1096360	NM_006416.5(SLC35A1):c.48C>T (p.Cys16=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 1013516	NM_006416.5(SLC35A1):c.304A>G (p.Asn102Asp)	SLC35A1 (N102D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976512	NM_006416.5(SLC35A1):c.512A>G (p.Glu171Gly)	SLC35A1 (E171G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 849369	NM_006416.5(SLC35A1):c.1000G>A (p.Val334Ile)	SLC35A1 (V275I +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 795982	NM_006416.5(SLC35A1):c.54A>C (p.Ala18=)	SLC35A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759971	NM_006416.5(SLC35A1):c.400T>C (p.Leu134=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 744698	NM_006416.5(SLC35A1):c.558G>A (p.Leu186=)	SLC35A1	Single nucleotide variant (synonymous variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 704611	NM_006416.5(SLC35A1):c.114C>T (p.Asp38=)	SLC35A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 703586	NM_006416.5(SLC35A1):c.355-7T>C	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 689189	GRCh37/hg19 6q15(chr6:88095499-88341035)x1	CFAP206, ORC3 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 687566	GRCh37/hg19 6q15(chr6:88153915-88410050)x3	AKIRIN2, CFAP206 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687255	GRCh37/hg19 6q15(chr6:88153915-88418531)x3	AKIRIN2, CFAP206 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686561	GRCh37/hg19 6q15(chr6:88177296-88293688)x3	RARS2, SLC35A1	Copy number gain	not provided	GUncertain significance
Select item 681467	NM_006416.5(SLC35A1):c.468G>A (p.Thr156=)	SLC35A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 665876	NM_006416.5(SLC35A1):c.699T>G (p.Ile233Met)	SLC35A1 (I233M)	Single nucleotide variant (missense variant +1 more)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 566896	NM_006416.5(SLC35A1):c.569T>C (p.Phe190Ser)	SLC35A1 (F190S)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 524099	NM_006416.5(SLC35A1):c.999_1000del (p.Arg333fs)	SLC35A1 (R274fs +1 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 513732	NM_006416.5(SLC35A1):c.556T>C (p.Leu186=)	SLC35A1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 513480	NM_006416.5(SLC35A1):c.237A>G (p.Glu79=)	SLC35A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 506838	NM_006416.5(SLC35A1):c.678C>T (p.Tyr226=)	SLC35A1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 488427	NM_006416.5(SLC35A1):c.281del (p.Pro94fs)	SLC35A1 (P94fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 488426	NM_006416.5(SLC35A1):c.277del (p.Val93fs)	SLC35A1 (V93fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 488425	NM_006416.5(SLC35A1):c.147T>C (p.Cys49=)	SLC35A1	Single nucleotide variant (synonymous variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 488414	NM_006416.5(SLC35A1):c.586G>A (p.Glu196Lys)	SLC35A1 (E196K)	Single nucleotide variant (missense variant +1 more)	SLC35A1-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 488413	NM_006416.5(SLC35A1):c.467C>G (p.Thr156Arg)	SLC35A1 (T156R)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GPathogenic/Likely pathogenic
Select item 488412	NM_006416.5(SLC35A1):c.303G>C (p.Gln101His)	SLC35A1 (Q101H)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GPathogenic
Select item 468944	NM_006416.5(SLC35A1):c.887-8C>T	SLC35A1	Single nucleotide variant (intron variant)	SLC35A1-congenital disorder of glycosylation	GLikely benign
Select item 468943	NM_006416.5(SLC35A1):c.757G>C (p.Ala253Pro)	SLC35A1 (A253P +1 more)	Single nucleotide variant (missense variant)	SLC35A1-congenital disorder of glycosylation	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 391044	NM_006416.5(SLC35A1):c.429A>G (p.Leu143=)	SLC35A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

<< First< Prev

Page of 2