SLC35B3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 153684	GRCh38/hg38 6p24.3(chr6:8178309-8910184)x1	HULC, LOC100506207 +27 more	Copy number loss	See cases	GUncertain significance
Select item 2458978	NM_001370479.2(SLC35B3):c.1075G>A (p.Ala359Thr)	SLC35B3 (A391T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372125	NM_001370479.2(SLC35B3):c.1070T>C (p.Val357Ala)	SLC35B3 (V357A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313171	NM_001370479.2(SLC35B3):c.1043C>T (p.Ser348Leu)	SLC35B3 (S380L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319572	NM_001370479.2(SLC35B3):c.978G>T (p.Leu326Phe)	SLC35B3 (L295F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2370701	NM_001370479.2(SLC35B3):c.973G>C (p.Gly325Arg)	SLC35B3 (G294R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393409	NM_001370479.2(SLC35B3):c.947C>T (p.Pro316Leu)	SLC35B3 (P285L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319571	NM_001370479.2(SLC35B3):c.869G>A (p.Gly290Asp)	SLC35B3 (G322D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206811	NM_001370479.2(SLC35B3):c.775A>G (p.Lys259Glu)	SLC35B3 (K291E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509486	NM_001370479.2(SLC35B3):c.695C>T (p.Ser232Leu)	SLC35B3 (S232L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3164344	NM_001370479.2(SLC35B3):c.655A>G (p.Lys219Glu)	SLC35B3 (K251E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402591	NM_001370479.2(SLC35B3):c.625G>A (p.Val209Ile)	SLC35B3 (V241I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398477	NM_001370479.2(SLC35B3):c.602C>T (p.Ser201Phe)	SLC35B3 (S201F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164343	NM_001370479.2(SLC35B3):c.554A>C (p.Asp185Ala)	SLC35B3 (D217A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286897	NM_001370479.2(SLC35B3):c.520A>G (p.Met174Val)	SLC35B3 (M206V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341691	NM_001370479.2(SLC35B3):c.514A>G (p.Ile172Val)	SLC35B3 (I172V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2619107	NM_001370479.2(SLC35B3):c.247C>T (p.Leu83Phe)	SLC35B3 (L115F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164342	NM_001370479.2(SLC35B3):c.227T>C (p.Phe76Ser)	SLC35B3 (F76S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164341	NM_001370479.2(SLC35B3):c.217G>T (p.Val73Leu)	SLC35B3 (V73L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364085	NM_001370479.2(SLC35B3):c.143A>G (p.Gln48Arg)	SLC35B3 (Q80R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602151	NM_001370479.2(SLC35B3):c.136C>T (p.Leu46Phe)	SLC35B3 (L46F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458543	NM_001370479.2(SLC35B3):c.97G>A (p.Val33Ile)	SLC35B3 (V33I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 814788	GRCh37/hg19 6p24.3(chr6:8286885-10039004)x1	HULC, OFCC1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814784	GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1	BLOC1S5, BMP6 +11 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563149	GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1	BLOC1S5, BMP6 +17 more	Copy number loss	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	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 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 53