SLC35B2[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 2355395	NM_178148.4(SLC35B2):c.1278G>C (p.Glu426Asp)	SLC35B2 (E293D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164336	NM_178148.4(SLC35B2):c.1252C>T (p.Arg418Trp)	SLC35B2 (R285W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226675	NM_178148.4(SLC35B2):c.1241G>C (p.Arg414Pro)	SLC35B2 (R321P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319568	NM_178148.4(SLC35B2):c.1240C>G (p.Arg414Gly)	SLC35B2 (R409G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228937	NM_178148.4(SLC35B2):c.1235G>A (p.Arg412Gln)	SLC35B2 (R307Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570475	NM_178148.4(SLC35B2):c.1231G>A (p.Ala411Thr)	SLC35B2 (A362T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443960	NM_178148.4(SLC35B2):c.1224_1225del (p.Arg408fs)	SLC35B2 (R275fs +5 more)	Microsatellite (frameshift variant)	Leukodystrophy, hypomyelinating, 26, with chondrodysplasia	GPathogenic
Select item 984534	NM_178148.4(SLC35B2):c.1218_1220del (p.Leu407del)	POLR1C, SLC35B2 (L274del +5 more)	Deletion (inframe_deletion)	Leukodystrophy, hypomyelinating, 26, with chondrodysplasia +1 more	GPathogenic
Select item 2276452	NM_178148.4(SLC35B2):c.1211C>G (p.Ala404Gly)	SLC35B2 (A299G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408300	NM_178148.4(SLC35B2):c.1199T>C (p.Val400Ala)	SLC35B2 (V295A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164335	NM_178148.4(SLC35B2):c.1117C>T (p.Leu373Phe)	SLC35B2 (L368F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164334	NM_178148.4(SLC35B2):c.1096G>A (p.Val366Ile)	SLC35B2 (V233I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164333	NM_178148.4(SLC35B2):c.1085T>A (p.Phe362Tyr)	SLC35B2 (F229Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403094	NM_178148.4(SLC35B2):c.1083G>C (p.Gln361His)	SLC35B2 (Q256H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544706	NM_178148.4(SLC35B2):c.1072A>G (p.Thr358Ala)	SLC35B2 (T225A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206790	NM_178148.4(SLC35B2):c.1057C>A (p.Leu353Ile)	SLC35B2 (L304I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781753	NM_178148.4(SLC35B2):c.1024C>G (p.Leu342Val)	SLC35B2 (L249V +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2345436	NM_178148.4(SLC35B2):c.998G>A (p.Arg333Gln)	SLC35B2 (R200Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319567	NM_178148.4(SLC35B2):c.985C>T (p.Arg329Cys)	SLC35B2 (R196C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302586	NM_178148.4(SLC35B2):c.896C>T (p.Ser299Leu)	SLC35B2 (S194L +5 more)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 11 +2 more	GConflicting classifications of pathogenicity
Select item 2359730	NM_178148.4(SLC35B2):c.839C>T (p.Ala280Val)	SLC35B2 (A175V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492766	NM_178148.4(SLC35B2):c.791C>T (p.Ser264Phe)	SLC35B2 (S171F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319563	NM_178148.4(SLC35B2):c.785G>A (p.Arg262His)	SLC35B2 (R213H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385825	NM_178148.4(SLC35B2):c.785G>C (p.Arg262Pro)	SLC35B2 (R157P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338131	NM_178148.4(SLC35B2):c.784C>T (p.Arg262Cys)	SLC35B2 (R129C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319565	NM_178148.4(SLC35B2):c.772G>A (p.Gly258Arg)	SLC35B2 (G153R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589834	NM_178148.4(SLC35B2):c.748G>A (p.Val250Ile)	SLC35B2 (V117I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314180	NM_178148.4(SLC35B2):c.706G>A (p.Glu236Lys)	SLC35B2 (E236K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164339	NM_178148.4(SLC35B2):c.703T>C (p.Tyr235His)	SLC35B2 (Y186H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319570	NM_178148.4(SLC35B2):c.695G>A (p.Arg232Gln)	SLC35B2 (R227Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610027	NM_178148.4(SLC35B2):c.677T>C (p.Met226Thr)	SLC35B2 (M121T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233721	NM_178148.4(SLC35B2):c.665_666del (p.Pro222fs)	SLC35B2 (P117fs +5 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2673062	NM_178148.4(SLC35B2):c.645C>T (p.Ala215=)	SLC35B2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3164338	NM_178148.4(SLC35B2):c.635A>T (p.Gln212Leu)	SLC35B2 (Q107L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370661	NM_178148.4(SLC35B2):c.619G>A (p.Val207Ile)	SLC35B2 (V102I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233753	NM_178148.4(SLC35B2):c.618C>T (p.Phe206=)	SLC35B2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2305723	NM_178148.4(SLC35B2):c.596G>A (p.Cys199Tyr)	SLC35B2 (C194Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335611	NM_178148.4(SLC35B2):c.563T>C (p.Phe188Ser)	SLC35B2 (F139S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468513	NM_178148.4(SLC35B2):c.554G>A (p.Arg185Gln)	SLC35B2 (R136Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570357	NM_178148.4(SLC35B2):c.548T>C (p.Met183Thr)	SLC35B2 (M178T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241301	NM_178148.4(SLC35B2):c.545C>A (p.Pro182His)	SLC35B2 (P182H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351873	NM_178148.4(SLC35B2):c.495T>G (p.Ile165Met)	SLC35B2 (I116M +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 787833	NM_178148.4(SLC35B2):c.450G>A (p.Thr150=)	SLC35B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2542809	NM_178148.4(SLC35B2):c.442C>T (p.Arg148Cys)	SLC35B2 (R55C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386513	NM_178148.4(SLC35B2):c.434C>T (p.Pro145Leu)	SLC35B2 (P12L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241300	NM_178148.4(SLC35B2):c.425C>T (p.Ala142Val)	SLC35B2 (A137V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319566	NM_178148.4(SLC35B2):c.406C>T (p.Arg136Cys)	SLC35B2 (R136C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233752	NM_178148.4(SLC35B2):c.369T>C (p.Tyr123=)	SLC35B2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3362642	NM_178148.4(SLC35B2):c.361G>A (p.Val121Met)	SLC35B2 (V116M +4 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy, hypomyelinating, 26, with chondrodysplasia	GUncertain significance
Select item 2613851	NM_178148.4(SLC35B2):c.287C>G (p.Pro96Arg)	SLC35B2 (P47R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319569	NM_178148.4(SLC35B2):c.178T>G (p.Phe60Val)	SLC35B2 (F11V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2215050	NM_178148.4(SLC35B2):c.80C>A (p.Pro27His)	SLC35B2 (P27H)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3062908	GRCh37/hg19 6p21.1(chr6:44185578-44552951)x3	AARS2, CDC5L +7 more	Copy number gain	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	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

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Items: 63