ClinVar for Gene (Select 146861) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319655	NM_152462.2(SLC35G3):c.265C>G (p.Leu89Val)	SLC35G3 (L89V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319653	NM_152462.2(SLC35G3):c.358A>G (p.Ser120Gly)	SLC35G3 (S120G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319652	NM_152462.2(SLC35G3):c.1001G>A (p.Gly334Glu)	SLC35G3 (G334E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319651	NM_152462.2(SLC35G3):c.658C>T (p.Pro220Ser)	SLC35G3 (P220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319650	NM_152462.2(SLC35G3):c.394A>G (p.Thr132Ala)	SLC35G3 (T132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319649	NM_152462.2(SLC35G3):c.160G>A (p.Val54Met)	SLC35G3 (V54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319648	NM_152462.2(SLC35G3):c.437C>T (p.Thr146Ile)	SLC35G3 (T146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243102	NC_000017.10:g.(?_33445500)_(34079869_?)del	AP2B1, FNDC8 +13 more	Deletion	Peroxisome biogenesis disorder 3A (Zellweger)	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3164462	NM_152462.2(SLC35G3):c.96G>T (p.Gln32His)	SLC35G3 (Q32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164461	NM_152462.2(SLC35G3):c.957C>G (p.Ser319Arg)	SLC35G3 (S319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164460	NM_152462.2(SLC35G3):c.692T>G (p.Leu231Arg)	SLC35G3 (L231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164459	NM_152462.2(SLC35G3):c.61G>A (p.Ala21Thr)	SLC35G3 (A21T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164458	NM_152462.2(SLC35G3):c.50C>T (p.Ser17Leu)	SLC35G3 (S17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164457	NM_152462.2(SLC35G3):c.308G>A (p.Arg103Gln)	SLC35G3 (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164456	NM_152462.2(SLC35G3):c.143G>A (p.Gly48Asp)	SLC35G3 (G48D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063495	GRCh37/hg19 17q12(chr17:33316754-33890206)x1	FNDC8, LIG3 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2611778	NM_152462.2(SLC35G3):c.431T>C (p.Val144Ala)	SLC35G3 (V144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597481	NM_152462.2(SLC35G3):c.370G>A (p.Val124Met)	SLC35G3 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595851	NM_152462.2(SLC35G3):c.943G>C (p.Val315Leu)	SLC35G3 (V315L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593004	NM_152462.2(SLC35G3):c.946G>T (p.Val316Leu)	SLC35G3 (V316L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589397	NM_152462.2(SLC35G3):c.269G>A (p.Arg90His)	SLC35G3 (R90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574697	GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	AATF, ACACA +66 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2543438	NM_152462.2(SLC35G3):c.416C>T (p.Thr139Ile)	SLC35G3 (T139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529951	NM_152462.2(SLC35G3):c.787G>A (p.Ala263Thr)	SLC35G3 (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528570	NM_152462.2(SLC35G3):c.310G>T (p.Ala104Ser)	SLC35G3 (A104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523985	NM_152462.2(SLC35G3):c.421T>C (p.Cys141Arg)	SLC35G3 (C141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513605	NM_152462.2(SLC35G3):c.8G>A (p.Gly3Asp)	SLC35G3 (G3D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511775	NM_152462.2(SLC35G3):c.53C>T (p.Pro18Leu)	SLC35G3 (P18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493592	NM_152462.2(SLC35G3):c.173C>G (p.Ser58Cys)	SLC35G3 (S58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491355	NM_152462.2(SLC35G3):c.289A>G (p.Thr97Ala)	SLC35G3 (T97A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482126	NM_152462.2(SLC35G3):c.400C>T (p.Arg134Cys)	SLC35G3 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461894	NM_152462.2(SLC35G3):c.352G>A (p.Ala118Thr)	SLC35G3 (A118T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457652	NM_152462.2(SLC35G3):c.139G>T (p.Gly47Trp)	SLC35G3 (G47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422813	NC_000017.10:g.(?_33475283)_(34079869_?)dup	AP2B1, GAS2L2 +10 more	Duplication	Peroxisome biogenesis disorder 3A (Zellweger)	GUncertain significance
Select item 2404613	NM_152462.2(SLC35G3):c.935C>T (p.Ala312Val)	SLC35G3 (A312V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390850	NM_152462.2(SLC35G3):c.280C>G (p.Leu94Val)	SLC35G3 (L94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379624	NM_152462.2(SLC35G3):c.652T>C (p.Cys218Arg)	SLC35G3 (C218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357917	NM_152462.2(SLC35G3):c.206C>G (p.Ser69Trp)	SLC35G3 (S69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356224	NM_152462.2(SLC35G3):c.685G>A (p.Val229Met)	SLC35G3 (V229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326148	NM_152462.2(SLC35G3):c.376C>T (p.Pro126Ser)	SLC35G3 (P126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324823	NM_152462.2(SLC35G3):c.20A>G (p.Tyr7Cys)	SLC35G3 (Y7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275847	NM_152462.2(SLC35G3):c.989G>A (p.Cys330Tyr)	SLC35G3 (C330Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274284	NM_152462.2(SLC35G3):c.665T>C (p.Val222Ala)	SLC35G3 (V222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238398	NM_152462.2(SLC35G3):c.781A>G (p.Ile261Val)	SLC35G3 (I261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232491	NM_152462.2(SLC35G3):c.299T>C (p.Ile100Thr)	SLC35G3 (I100T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 815928	GRCh37/hg19 17q12(chr17:33073917-33863479)x1	CCT6B, FNDC8 +12 more	Copy number loss	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 635886	Single allele	ASIC2, CCL1 +16 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 564429	GRCh37/hg19 17q12(chr17:32351496-34455576)x1	AP2B1, ASIC2 +40 more	Copy number loss	not provided	GUncertain significance
Select item 442885	GRCh37/hg19 17q12(chr17:33498726-33863479)x1	SLC35G3, SLFN11 +5 more	Copy number loss	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 394345	GRCh37/hg19 17q12(chr17:33515101-33520981)x3	SLC35G3, UNC45B	Copy number gain	See cases	GLikely benign
Select item 147860	GRCh38/hg38 17q12(chr17:35129859-35767049)x3	AP2B1, C17orf50 +46 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 55