ClinVar for Gene (Select 55343) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3164347	NM_018389.5(SLC35C1):c.603C>G (p.Phe201Leu)	SLC35C1 (F188L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063195	GRCh37/hg19 11p11.2(chr11:45810101-45930554)x3	CRY2, FREY1 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3053117	NM_018389.5(SLC35C1):c.717C>T (p.Cys239=)	SLC35C1	Single nucleotide variant (synonymous variant)	SLC35C1-related disorder	GLikely benign
Select item 3020922	NM_018389.5(SLC35C1):c.744G>T (p.Leu248=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
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 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 2982909	NM_018389.5(SLC35C1):c.885C>T (p.Thr295=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2975096	NM_018389.5(SLC35C1):c.567G>C (p.Gly189=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2964863	NM_018389.5(SLC35C1):c.363G>A (p.Ser121=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2956213	NM_018389.5(SLC35C1):c.447C>T (p.Leu149=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2918024	NM_018389.5(SLC35C1):c.791C>T (p.Ala264Val)	SLC35C1 (A264V +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
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 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 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 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 2821792	NM_018389.5(SLC35C1):c.861G>A (p.Gln287=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2819970	NM_018389.5(SLC35C1):c.978C>T (p.Ser326=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
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 2806673	NM_018389.5(SLC35C1):c.737T>A (p.Leu246His)	SLC35C1 (L233H +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2790304	NM_018389.5(SLC35C1):c.759G>A (p.Gln253=)	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 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 2743114	NM_018389.5(SLC35C1):c.357C>T (p.Pro119=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2741281	NM_018389.5(SLC35C1):c.651G>T (p.Thr217=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
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 2684643	GRCh37/hg19 11p11.2(chr11:45804897-45930554)x3	CRY2, FREY1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2641734	NM_018389.5(SLC35C1):c.1020C>T (p.Val340=)	SLC35C1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604337	NM_018389.5(SLC35C1):c.775G>A (p.Ala259Thr)	SLC35C1 (A259T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498512	NM_018389.5(SLC35C1):c.1021_1022del (p.Arg341fs)	SLC35C1 (R328fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2428634	NM_018389.5(SLC35C1):c.847G>A (p.Val283Met)	SLC35C1 (V270M +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
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 2334116	NM_018389.5(SLC35C1):c.461A>C (p.Asn154Thr)	SLC35C1 (N141T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2185873	NM_018389.5(SLC35C1):c.738C>G (p.Leu246=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2185779	NM_018389.5(SLC35C1):c.506A>G (p.Tyr169Cys)	SLC35C1 (Y156C +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
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 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 2170466	NM_018389.5(SLC35C1):c.954C>G (p.Thr318=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
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 2158087	NM_018389.5(SLC35C1):c.945C>T (p.Tyr315=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2148651	NM_018389.5(SLC35C1):c.705C>T (p.Asn235=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2134756	NM_018389.5(SLC35C1):c.593G>C (p.Gly198Ala)	SLC35C1 (G198A +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2132795	NM_018389.5(SLC35C1):c.595A>G (p.Thr199Ala)	SLC35C1 (T186A +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 2125192	NM_018389.5(SLC35C1):c.536-16C>T	SLC35C1	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency type II	GLikely benign
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 2096091	NM_018389.5(SLC35C1):c.381G>T (p.Met127Ile)	SLC35C1 (M114I +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2083381	NM_018389.5(SLC35C1):c.854G>T (p.Gly285Val)	SLC35C1 (G272V +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2064224	NM_018389.5(SLC35C1):c.535+20A>G	SLC35C1	Single nucleotide variant (intron variant)	Leukocyte adhesion deficiency type II	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 2056482	NM_018389.5(SLC35C1):c.360G>A (p.Leu120=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2041792	NM_018389.5(SLC35C1):c.916G>T (p.Ala306Ser)	SLC35C1 (A293S +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	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 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 2012885	NM_018389.5(SLC35C1):c.580C>T (p.Leu194=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 2007772	NM_018389.5(SLC35C1):c.622T>C (p.Cys208Arg)	SLC35C1 (C195R +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 1998585	NM_018389.5(SLC35C1):c.751G>A (p.Glu251Lys)	SLC35C1 (E238K +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1993373	NM_018389.5(SLC35C1):c.836C>G (p.Ala279Gly)	SLC35C1 (A279G +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	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 1979470	NM_018389.5(SLC35C1):c.549T>C (p.Leu183=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
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 1958881	NM_018389.5(SLC35C1):c.1004C>T (p.Ser335Phe)	SLC35C1 (S335F +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1954935	NM_018389.5(SLC35C1):c.1079G>A (p.Ser360Asn)	SLC35C1 (S347N +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 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 1945787	NM_018389.5(SLC35C1):c.411C>T (p.Tyr137=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
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 1927364	NM_018389.5(SLC35C1):c.1005C>T (p.Ser335=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1918109	NM_018389.5(SLC35C1):c.603C>T (p.Phe201=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1907198	NM_018389.5(SLC35C1):c.453C>T (p.Thr151=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1904959	NM_018389.5(SLC35C1):c.336G>A (p.Arg112=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II +1 more	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 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1700332	NM_018389.5(SLC35C1):c.478C>G (p.Leu160Val)	SLC35C1 (L147V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691013	NM_018389.5(SLC35C1):c.1088G>A (p.Gly363Glu)	SLC35C1 (G350E +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
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 1641543	NM_018389.5(SLC35C1):c.536-21CTC[2]	SLC35C1	Microsatellite (intron variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1632893	NM_018389.5(SLC35C1):c.1080C>T (p.Ser360=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1629249	NM_018389.5(SLC35C1):c.672C>T (p.Asp224=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1626250	NM_018389.5(SLC35C1):c.1008C>T (p.Ala336=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1609416	NM_018389.5(SLC35C1):c.495C>T (p.Thr165=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1603287	NM_018389.5(SLC35C1):c.372C>T (p.Phe124=)	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	GLikely benign
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 1571987	NM_018389.5(SLC35C1):c.924A>G (p.Thr308=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1565896	NM_018389.5(SLC35C1):c.742C>T (p.Leu248=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1541142	NM_018389.5(SLC35C1):c.408G>A (p.Lys136=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II	GLikely benign
Select item 1534591	NM_018389.5(SLC35C1):c.630G>A (p.Ser210=)	SLC35C1	Single nucleotide variant (synonymous variant)	Leukocyte adhesion deficiency type II +1 more	GLikely benign
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 1518161	NM_018389.5(SLC35C1):c.139C>T (p.Leu47Phe)	SLC35C1 (L47F +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1514864	NM_018389.5(SLC35C1):c.778C>T (p.Gln260Ter)	SLC35C1 (Q260* +1 more)	Single nucleotide variant (nonsense)	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1510238	NM_018389.5(SLC35C1):c.877C>A (p.Pro293Thr)	SLC35C1 (P293T +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1501893	NM_018389.5(SLC35C1):c.1018G>A (p.Val340Ile)	SLC35C1 (V327I +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1495598	NM_018389.5(SLC35C1):c.934G>A (p.Val312Met)	SLC35C1 (V299M +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1492001	NM_018389.5(SLC35C1):c.1085T>C (p.Met362Thr)	SLC35C1 (M362T +1 more)	Single nucleotide variant (missense variant)	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 1483268	NC_000011.9:g.(?_45827353)_(45932533_?)dup	CRY2, FREY1 +3 more	Duplication	Peroxisome biogenesis disorder	GUncertain significance

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