SLC35D1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 154385	GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3	AK4, ANKRD13C +210 more	Copy number gain	See cases	GPathogenic
Select item 152348	GRCh38/hg38 1p31.3(chr1:64944525-67592003)x1	AK4, C1orf141 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 155062	GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1	ACADM, ANKRD13C +165 more	Copy number loss	See cases	GPathogenic
Select item 1707456	Single allele	ACADM, AK5 +188 more	Duplication	not specified	GUncertain significance
Select item 3126437	NM_001077700.3(MIER1):c.1246C>T (p.Leu416Phe)	MIER1, SLC35D1 (L380F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024943	NM_001077700.3(MIER1):c.1378T>C (p.Ser460Pro)	LOC129388544, LOC129930727 +2 more (S344P +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3294851	NM_001077700.3(MIER1):c.1439A>G (p.Asn480Ser)	LOC129388544, MIER1 +1 more (N427S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126438	NM_001077700.3(MIER1):c.1465C>T (p.Pro489Ser)	LOC129388544, MIER1 +1 more (P409S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515973	NM_001077700.3(MIER1):c.1487C>T (p.Thr496Ile)	LOC129388544, MIER1 +1 more (T460I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126439	NM_001077700.3(MIER1):c.1510C>G (p.Leu504Val)	LOC129388544, MIER1 +1 more (L504V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281735	NM_001077700.3(MIER1):c.1528C>T (p.Leu510Phe)	LOC129388544, MIER1 +1 more (L430F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375648	NM_001077700.3(MIER1):c.1531G>A (p.Ala511Thr)	LOC129388544, MIER1 +1 more (A458T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294854	NM_001077700.3(MIER1):c.1618G>C (p.Glu540Gln)	MIER1, SLC35D1 (E460Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1564980	NM_015139.3(SLC35D1):c.1047T>C (p.Ile349=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 3319586	NM_015139.3(SLC35D1):c.1028C>T (p.Ala343Val)	SLC35D1 (A343V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319588	NM_015139.3(SLC35D1):c.1013G>A (p.Ser338Asn)	SLC35D1 (S338N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2044131	NM_015139.3(SLC35D1):c.1007A>C (p.Gln336Pro)	SLC35D1 (Q336P)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GLikely benign
Select item 288787	NM_015139.3(SLC35D1):c.986A>G (p.Tyr329Cys)	SLC35D1 (Y329C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2166182	NM_015139.3(SLC35D1):c.976G>T (p.Val326Leu)	SLC35D1 (V326L)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1371077	NM_015139.3(SLC35D1):c.960-9G>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1211696	NM_015139.3(SLC35D1):c.960-78A>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265910	NM_015139.3(SLC35D1):c.959+265G>A	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179562	NM_015139.3(SLC35D1):c.959+241_959+244del	SLC35D1	Deletion (intron variant)	not provided	GLikely benign
Select item 1988954	NM_015139.3(SLC35D1):c.959+9_959+11del	SLC35D1	Deletion (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2965148	NM_015139.3(SLC35D1):c.959+7A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1514485	NM_015139.3(SLC35D1):c.955A>G (p.Ile319Val)	SLC35D1 (I319V)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2858308	NM_015139.3(SLC35D1):c.948T>C (p.Gly316=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1397927	NM_015139.3(SLC35D1):c.945T>A (p.Ile315=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1124	NM_015139.3(SLC35D1):c.932G>A (p.Trp311Ter)	SLC35D1 (W311*)	Single nucleotide variant (nonsense)	Schneckenbecken dysplasia	GPathogenic
Select item 1702486	NM_015139.3(SLC35D1):c.930G>A (p.Thr310=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 2143989	NM_015139.3(SLC35D1):c.927C>T (p.Phe309=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 3075713	NM_015139.3(SLC35D1):c.919T>A (p.Tyr307Asn)	SLC35D1 (Y307N)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GLikely pathogenic
Select item 3319587	NM_015139.3(SLC35D1):c.903G>A (p.Met301Ile)	SLC35D1 (M301I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1314773	NM_015139.3(SLC35D1):c.902T>C (p.Met301Thr)	SLC35D1 (M301T)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +1 more	GUncertain significance
Select item 2189374	NM_015139.3(SLC35D1):c.892T>C (p.Tyr298His)	SLC35D1 (Y298H)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 967179	NM_015139.3(SLC35D1):c.891_892del (p.Ile299fs)	SLC35D1 (I299fs)	Deletion (frameshift variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2904386	NM_015139.3(SLC35D1):c.877-14A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1540454	NM_015139.3(SLC35D1):c.877-17A>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1260580	NM_015139.3(SLC35D1):c.877-30A>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246419	NM_015139.3(SLC35D1):c.877-127G>A	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185838	NM_015139.3(SLC35D1):c.877-192G>A	SLC35D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115581	NM_015139.3(SLC35D1):c.876+5G>A	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 1714849	NM_015139.3(SLC35D1):c.845C>A (p.Ala282Asp)	SLC35D1 (A282D)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 662949	NM_015139.3(SLC35D1):c.836A>G (p.Tyr279Cys)	SLC35D1 (Y279C)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2912167	NM_015139.3(SLC35D1):c.830C>T (p.Thr277Met)	SLC35D1 (T277M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1163735	NM_015139.3(SLC35D1):c.817A>G (p.Thr273Ala)	SLC35D1 (T273A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571420	NM_015139.3(SLC35D1):c.816C>A (p.Ala272=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 440280	NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)	SLC35D1 (A272T)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 734963	NM_015139.3(SLC35D1):c.813C>T (p.Tyr271=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1038736	NM_015139.3(SLC35D1):c.812A>G (p.Tyr271Cys)	SLC35D1 (Y271C)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +1 more	GUncertain significance
Select item 1212234	NM_015139.3(SLC35D1):c.798-264A>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264238	NM_015139.3(SLC35D1):c.797+144A>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202549	NM_015139.3(SLC35D1):c.797+121C>T	SLC35D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242550	NM_015139.3(SLC35D1):c.797+109A>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231615	NM_015139.3(SLC35D1):c.797+99G>T	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1528202	NM_015139.3(SLC35D1):c.797+16C>T	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GBenign
Select item 1392953	NM_015139.3(SLC35D1):c.776T>A (p.Phe259Tyr)	SLC35D1 (F259Y)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2484148	NM_015139.3(SLC35D1):c.774G>C (p.Gln258His)	SLC35D1 (Q258H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1461527	NM_015139.3(SLC35D1):c.759C>T (p.Thr253=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2187415	NM_015139.3(SLC35D1):c.757A>G (p.Thr253Ala)	SLC35D1 (T253A)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia +1 more	GUncertain significance
Select item 1903841	NM_015139.3(SLC35D1):c.738G>T (p.Glu246Asp)	SLC35D1 (E246D)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GUncertain significance
Select item 2811534	NM_015139.3(SLC35D1):c.730-5T>G	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 709549	NM_015139.3(SLC35D1):c.730-8T>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GBenign
Select item 1269364	NM_015139.3(SLC35D1):c.730-95_730-90del	SLC35D1	Deletion (intron variant)	not provided	GBenign
Select item 1186767	NM_015139.3(SLC35D1):c.730-113_730-90del	SLC35D1	Deletion (intron variant)	not provided	GLikely benign
Select item 1244705	NM_015139.3(SLC35D1):c.730-91G>T	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276665	NM_015139.3(SLC35D1):c.730-92T>C	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182693	NM_015139.3(SLC35D1):c.730-122CTGTGT[4]	SLC35D1	Microsatellite (intron variant)	not provided	GBenign
Select item 1189489	NM_015139.3(SLC35D1):c.730-98C>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273225	NM_015139.3(SLC35D1):c.730-104C>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234073	NM_015139.3(SLC35D1):c.730-116C>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282951	NM_015139.3(SLC35D1):c.730-124_730-117del	SLC35D1	Deletion (intron variant)	not provided	GBenign
Select item 1211099	NM_015139.3(SLC35D1):c.730-122_730-119del	SLC35D1	Deletion (intron variant)	not provided	GLikely benign
Select item 1246882	NM_015139.3(SLC35D1):c.730-122C>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218296	NM_015139.3(SLC35D1):c.730-156GT[23]	SLC35D1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1203853	NM_015139.3(SLC35D1):c.730-156GT[16]	SLC35D1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1235463	NM_015139.3(SLC35D1):c.730-154G>A	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198567	NM_015139.3(SLC35D1):c.729+216A>G	SLC35D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233310	NM_015139.3(SLC35D1):c.729+185A>T	SLC35D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217127	NM_015139.3(SLC35D1):c.729+40G>A	SLC35D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640797	NM_015139.3(SLC35D1):c.729+18C>T	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2173297	NM_015139.3(SLC35D1):c.729+12T>C	SLC35D1	Single nucleotide variant (intron variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1168661	NM_015139.3(SLC35D1):c.729+5G>C	SLC35D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 856165	NM_015139.3(SLC35D1):c.712A>G (p.Thr238Ala)	SLC35D1 (T238A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1049524	NM_015139.3(SLC35D1):c.707A>G (p.Tyr236Cys)	SLC35D1 (Y236C)	Single nucleotide variant (missense variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2195187	NM_015139.3(SLC35D1):c.705G>A (p.Ala235=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 1330504	NM_015139.3(SLC35D1):c.687G>T (p.Leu229=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 787003	NM_015139.3(SLC35D1):c.672A>C (p.Ala224=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GBenign
Select item 811263	NM_015139.3(SLC35D1):c.660C>G (p.Leu220=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 3319584	NM_015139.3(SLC35D1):c.659T>C (p.Leu220Pro)	SLC35D1 (L220P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1902611	NM_015139.3(SLC35D1):c.654A>G (p.Gly218=)	SLC35D1	Single nucleotide variant (synonymous variant)	Schneckenbecken dysplasia	GLikely benign
Select item 2633725	NM_015139.3(SLC35D1):c.637G>T (p.Glu213Ter)	SLC35D1 (E213*)	Single nucleotide variant (nonsense)	SLC35D1-related disorder	GLikely pathogenic

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