SLC35D3[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 1684644	Single allele	ABRACL, AHI1 +260 more	Deletion	Autoinflammatory syndrome, familial, Behcet-like	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 149759	GRCh38/hg38 6q23.3(chr6:136630655-137791240)x4	IFNGR1, IL20RA +72 more	Copy number gain	See cases	GLikely benign
Select item 3319592	NM_001008783.3(SLC35D3):c.41T>C (p.Val14Ala)	SLC35D3 (V14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336442	NM_001008783.3(SLC35D3):c.48C>G (p.Ile16Met)	SLC35D3 (I16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243358	NM_001008783.3(SLC35D3):c.71C>T (p.Ser24Phe)	SLC35D3 (S24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400087	NM_001008783.3(SLC35D3):c.196G>T (p.Ala66Ser)	SLC35D3 (A66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164363	NM_001008783.3(SLC35D3):c.215T>G (p.Leu72Arg)	SLC35D3 (L72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258769	NM_001008783.3(SLC35D3):c.364G>C (p.Val122Leu)	SLC35D3 (V122L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233894	NM_001008783.3(SLC35D3):c.427G>A (p.Ala143Thr)	SLC35D3 (A143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315568	NM_001008783.3(SLC35D3):c.448G>T (p.Asp150Tyr)	SLC35D3 (D150Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467948	NM_001008783.3(SLC35D3):c.503A>G (p.His168Arg)	SLC35D3 (H168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317067	NM_001008783.3(SLC35D3):c.554G>A (p.Gly185Glu)	SLC35D3 (G185E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164364	NM_001008783.3(SLC35D3):c.647C>A (p.Thr216Asn)	SLC35D3 (T216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1240540	NM_001008783.3(SLC35D3):c.741C>G (p.Thr247=)	SLC35D3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2401686	NM_001008783.3(SLC35D3):c.781G>C (p.Val261Leu)	SLC35D3 (V261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314577	NM_001008783.3(SLC35D3):c.835C>A (p.Pro279Thr)	SLC35D3 (P279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267494	NM_001008783.3(SLC35D3):c.910G>C (p.Glu304Gln)	SLC35D3 (E304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318594	NM_001008783.3(SLC35D3):c.934G>A (p.Glu312Lys)	SLC35D3 (E312K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783475	NM_001008783.3(SLC35D3):c.984C>A (p.Asp328Glu)	SLC35D3 (D328E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2537118	NM_001008783.3(SLC35D3):c.992C>T (p.Pro331Leu)	SLC35D3 (P331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319593	NM_001008783.3(SLC35D3):c.1033C>T (p.Arg345Trp)	SLC35D3 (R345W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379376	NM_001008783.3(SLC35D3):c.1067C>T (p.Ala356Val)	SLC35D3 (A356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164362	NM_001008783.3(SLC35D3):c.1100C>T (p.Pro367Leu)	SLC35D3 (P367L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407974	NM_001008783.3(SLC35D3):c.1202A>C (p.Tyr401Ser)	SLC35D3 (Y401S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319594	NM_001008783.3(SLC35D3):c.1208A>G (p.Lys403Arg)	SLC35D3 (K403R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246197	NC_000006.11:g.(?_137143759)_(138202456_?)dup	IFNGR1, IL20RA +6 more	Duplication	not provided	GUncertain significance
Select item 3246073	NC_000006.11:g.(?_135606783)_(138202456_?)del	AHI1, BCLAF1 +12 more	Deletion	Peroxisome biogenesis disorder 9B	GPathogenic
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 1450358	NC_000006.11:g.(?_137143759)_(138202456_?)del	IL20RA, IFNGR1 +6 more	Deletion	Disseminated atypical mycobacterial infection	GPathogenic
Select item 1180549	GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1	MYB, NHSL1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1062411	NC_000006.11:g.(?_137143759)_(137540520_?)dup	SLC35D3, IFNGR1 +3 more	Duplication	Disseminated atypical mycobacterial infection	GUncertain significance
Select item 972948	GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1	ABRACL, ARFGEF3 +23 more	Copy number loss	not provided	Gnot provided
Select item 830657	NC_000006.11:g.(?_136482728)_(137540520_?)del	BCLAF1, IFNGR1 +8 more	Deletion	Immunodeficiency 27A	GPathogenic
Select item 814871	GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1	SLC35D3, IFNGR1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625705	GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510)	ABRACL, ADAT2 +49 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
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 441897	GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1	ABRACL, ADAT2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 43