SLC35C1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +79 more	Copy number loss	See cases	GPathogenic
Select item 1265093	NC_000011.10:g.45804043del	LOC130005623, SLC35C1	Deletion	not provided	GBenign
Select item 1191496	NM_001145265.1(SLC35C1):c.-359A>T	SLC35C1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1283904	NM_001145265.1(SLC35C1):c.-154G>A	LOC130005624, SLC35C1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1292087	NM_001145265.2(SLC35C1):c.-32+493A>G	SLC35C1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 304719	NM_018389.4(SLC35C1):c.-678A>G	SLC35C1	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304720	NM_018389.4(SLC35C1):c.-665C>T	SLC35C1	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 304721	NM_018389.4(SLC35C1):c.-657C>A	SLC35C1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 304722	NM_018389.5(SLC35C1):c.-653C>T	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304723	NM_018389.5(SLC35C1):c.-633T>G	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304724	NM_018389.5(SLC35C1):c.-632G>A	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 877526	NM_018389.5(SLC35C1):c.-615G>C	LOC130005625, SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304725	NM_018389.5(SLC35C1):c.-569C>T	LOC130005625, SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304726	NM_018389.5(SLC35C1):c.-546_-540dup	LOC130005625, SLC35C1	Duplication (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 304727	NM_018389.5(SLC35C1):c.-518C>A	LOC130005625, SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304728	NM_018389.5(SLC35C1):c.-481G>A	LOC130005625, SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304729	NM_018389.5(SLC35C1):c.-393C>T	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304730	NM_018389.5(SLC35C1):c.-312T>C	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304731	NM_018389.5(SLC35C1):c.-303G>C	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 878548	NM_018389.5(SLC35C1):c.-287C>G	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304732	NM_018389.5(SLC35C1):c.-234T>G	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304733	NM_018389.5(SLC35C1):c.-218G>C	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304734	NM_018389.5(SLC35C1):c.-173C>T	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II +1 more	GBenign
Select item 304735	NM_018389.5(SLC35C1):c.-88T>G	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 95903	NM_018389.5(SLC35C1):c.-3A>G	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 1381648	NM_018389.5(SLC35C1):c.10G>A (p.Ala4Thr)	SLC35C1 (A4T)	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 3010683	NM_018389.5(SLC35C1):c.12C>T (p.Ala4=)	SLC35C1	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1467061	NM_018389.5(SLC35C1):c.14C>T (p.Pro5Leu)	SLC35C1 (P5L)	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 846744	NM_018389.5(SLC35C1):c.19A>G (p.Lys7Glu)	SLC35C1 (K7E)	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2417630	NM_018389.5(SLC35C1):c.22C>T (p.Arg8Trp)	SLC35C1 (R8W)	Single nucleotide variant (5 prime UTR variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 304736	NM_018389.5(SLC35C1):c.29G>A (p.Arg10Lys)	SLC35C1 (R10K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1053802	NM_018389.5(SLC35C1):c.40A>G (p.Met14Val)	SLC35C1 (M14V +1 more)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2013391	NM_018389.5(SLC35C1):c.42G>A (p.Met14Ile)	SLC35C1 (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 755027	NM_018389.5(SLC35C1):c.51C>T (p.Thr17=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GConflicting classifications of pathogenicity
Select item 2807192	NM_018389.5(SLC35C1):c.58T>C (p.Ser20Pro)	SLC35C1 (S20P +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 879139	NM_018389.5(SLC35C1):c.58T>G (p.Ser20Ala)	SLC35C1 (S20A +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2111372	NM_018389.5(SLC35C1):c.60A>G (p.Ser20=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2788772	NM_018389.5(SLC35C1):c.66C>T (p.Pro22=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2880938	NM_018389.5(SLC35C1):c.73G>A (p.Glu25Lys)	SLC35C1 (E12K +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 794812	NM_018389.5(SLC35C1):c.78A>G (p.Ala26=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1449928	NM_018389.5(SLC35C1):c.82G>A (p.Ala28Thr)	SLC35C1 (A15T +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 3002501	NM_018389.5(SLC35C1):c.84C>A (p.Ala28=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1421297	NM_018389.5(SLC35C1):c.85A>C (p.Asn29His)	SLC35C1 (N16H +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 566519	NM_018389.5(SLC35C1):c.88G>A (p.Gly30Arg)	SLC35C1 (G30R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95906	NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter)	SLC35C1 (E18*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1942567	NM_018389.5(SLC35C1):c.108G>A (p.Leu36=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 530695	NM_018389.5(SLC35C1):c.116T>C (p.Leu39Ser)	SLC35C1 (L39S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 936186	NM_018389.5(SLC35C1):c.120G>C (p.Gln40His)	SLC35C1 (Q27H +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 530694	NM_018389.5(SLC35C1):c.120G>T (p.Gln40His)	SLC35C1 (Q40H +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 793328	NM_018389.5(SLC35C1):c.123C>T (p.Ile41=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2888523	NM_018389.5(SLC35C1):c.126G>C (p.Ala42=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 800196	NM_018389.5(SLC35C1):c.130G>A (p.Val44Met)	SLC35C1 (V31M +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1518161	NM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe)	SLC35C1 (L47F +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II +1 more	GUncertain significance
Select item 2833245	NM_018389.5(SLC35C1):c.150C>T (p.Val50=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 304737	NM_018389.5(SLC35C1):c.151A>G (p.Thr51Ala)	SLC35C1 (T51A +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II +1 more	GUncertain significance
Select item 1576234	NM_018389.5(SLC35C1):c.153C>G (p.Thr51=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 948362	NM_018389.5(SLC35C1):c.163A>G (p.Met55Val)	SLC35C1 (M42V +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2768721	NM_018389.5(SLC35C1):c.183C>T (p.Tyr61=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1028108	NM_018389.5(SLC35C1):c.184C>G (p.Leu62Val)	SLC35C1 (L49V +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 860772	NM_018389.5(SLC35C1):c.192C>G (p.Asp64Glu)	SLC35C1 (D51E +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1157627	NM_018389.5(SLC35C1):c.198C>T (p.Pro66=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 862619	NM_018389.5(SLC35C1):c.200C>T (p.Ser67Phe)	SLC35C1 (S54F +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II +1 more	GUncertain significance
Select item 2038202	NM_018389.5(SLC35C1):c.204G>A (p.Leu68=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1602351	NM_018389.5(SLC35C1):c.207G>A (p.Arg69=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II +1 more	GLikely benign
Select item 2061935	NM_018389.5(SLC35C1):c.209T>G (p.Leu70Arg)	SLC35C1 (L70R +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2128503	NM_018389.5(SLC35C1):c.216C>T (p.Thr72=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 941811	NM_018389.5(SLC35C1):c.220A>G (p.Ile74Val)	SLC35C1 (I61V +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1947675	NM_018389.5(SLC35C1):c.222C>A (p.Ile74=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1432919	NM_018389.5(SLC35C1):c.226G>C (p.Val76Leu)	SLC35C1 (V63L +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 723737	NM_018389.5(SLC35C1):c.226G>A (p.Val76Ile)	SLC35C1 (V63I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1532552	NM_018389.5(SLC35C1):c.231C>G (p.Thr77=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 844083	NM_018389.5(SLC35C1):c.254C>T (p.Thr85Met)	SLC35C1 (T72M +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II +1 more	GUncertain significance
Select item 2865957	NM_018389.5(SLC35C1):c.255G>T (p.Thr85=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2173276	NM_018389.5(SLC35C1):c.255G>A (p.Thr85=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2179056	NM_018389.5(SLC35C1):c.258G>A (p.Leu86=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1345882	NM_018389.5(SLC35C1):c.260T>C (p.Leu87Pro)	SLC35C1 (L87P +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2006680	NM_018389.5(SLC35C1):c.271C>T (p.Leu91Phe)	SLC35C1 (L78F +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1966802	NM_018389.5(SLC35C1):c.286G>A (p.Ala96Thr)	SLC35C1 (A83T +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2199432	NM_018389.5(SLC35C1):c.291C>T (p.Cys97=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1645923	NM_018389.5(SLC35C1):c.303C>T (p.Ala101=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 971213	NM_018389.5(SLC35C1):c.307G>T (p.Asp103Tyr)	SLC35C1 (D103Y +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2161825	NM_018389.5(SLC35C1):c.309C>T (p.Asp103=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 461477	NM_018389.5(SLC35C1):c.312C>T (p.Phe104=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1044668	NM_018389.5(SLC35C1):c.323G>C (p.Arg108Pro)	SLC35C1 (R95P +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 841864	NM_018389.5(SLC35C1):c.323G>T (p.Arg108Leu)	SLC35C1 (R95L +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2292771	NM_018389.5(SLC35C1):c.325C>G (p.Leu109Val)	SLC35C1 (L109V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1985057	NM_018389.5(SLC35C1):c.330C>T (p.Asp110=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1356288	NM_018389.5(SLC35C1):c.330C>G (p.Asp110Glu)	SLC35C1 (D97E +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1904959	NM_018389.5(SLC35C1):c.336G>A (p.Arg112=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1713615	NM_018389.5(SLC35C1):c.340G>C (p.Ala114Pro)	SLC35C1 (A101P +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1949767	NM_018389.5(SLC35C1):c.344G>A (p.Arg115His)	SLC35C1 (R115H +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2726205	NM_018389.5(SLC35C1):c.345C>T (p.Arg115=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1114295	NM_018389.5(SLC35C1):c.348C>T (p.Ser116=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 3319576	NM_018389.5(SLC35C1):c.349G>A (p.Val117Ile)	SLC35C1 (V117I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1117312	NM_018389.5(SLC35C1):c.354G>A (p.Leu118=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign

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