Related gene-specific medical variations for Gene (Select 347734) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2673062	NM_178148.4(SLC35B2):c.645C>T (p.Ala215=)	POLR1C, SLC35B2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2613851	NM_178148.4(SLC35B2):c.287C>G (p.Pro96Arg)	POLR1C, SLC35B2 (P47R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2610027	NM_178148.4(SLC35B2):c.677T>C (p.Met226Thr)	POLR1C, SLC35B2 (M121T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589834	NM_178148.4(SLC35B2):c.748G>A (p.Val250Ile)	POLR1C, SLC35B2 (V117I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570475	NM_178148.4(SLC35B2):c.1231G>A (p.Ala411Thr)	POLR1C, SLC35B2 (A362T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570357	NM_178148.4(SLC35B2):c.548T>C (p.Met183Thr)	POLR1C, SLC35B2 (M178T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544706	NM_178148.4(SLC35B2):c.1072A>G (p.Thr358Ala)	POLR1C, SLC35B2 (T225A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542809	NM_178148.4(SLC35B2):c.442C>T (p.Arg148Cys)	POLR1C, SLC35B2 (R55C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492766	NM_178148.4(SLC35B2):c.791C>T (p.Ser264Phe)	POLR1C, SLC35B2 (S171F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468513	NM_178148.4(SLC35B2):c.554G>A (p.Arg185Gln)	POLR1C, SLC35B2 (R136Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443960	NM_178148.4(SLC35B2):c.1224_1225del (p.Arg408fs)	POLR1C, SLC35B2 (R275fs +5 more)	Microsatellite (frameshift variant +1 more)	Leukodystrophy, hypomyelinating, 26, with chondrodysplasia	GPathogenic
Select item 2408300	NM_178148.4(SLC35B2):c.1199T>C (p.Val400Ala)	POLR1C, SLC35B2 (V295A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403094	NM_178148.4(SLC35B2):c.1083G>C (p.Gln361His)	POLR1C, SLC35B2 (Q256H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386513	NM_178148.4(SLC35B2):c.434C>T (p.Pro145Leu)	POLR1C, SLC35B2 (P12L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385825	NM_178148.4(SLC35B2):c.785G>C (p.Arg262Pro)	POLR1C, SLC35B2 (R157P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370661	NM_178148.4(SLC35B2):c.619G>A (p.Val207Ile)	POLR1C, SLC35B2 (V102I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359730	NM_178148.4(SLC35B2):c.839C>T (p.Ala280Val)	POLR1C, SLC35B2 (A175V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355395	NM_178148.4(SLC35B2):c.1278G>C (p.Glu426Asp)	POLR1C, SLC35B2 (E293D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351873	NM_178148.4(SLC35B2):c.495T>G (p.Ile165Met)	POLR1C, SLC35B2 (I116M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2345436	NM_178148.4(SLC35B2):c.998G>A (p.Arg333Gln)	POLR1C, SLC35B2 (R200Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338131	NM_178148.4(SLC35B2):c.784C>T (p.Arg262Cys)	POLR1C, SLC35B2 (R129C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335611	NM_178148.4(SLC35B2):c.563T>C (p.Phe188Ser)	POLR1C, SLC35B2 (F139S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314180	NM_178148.4(SLC35B2):c.706G>A (p.Glu236Lys)	POLR1C, SLC35B2 (E236K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305723	NM_178148.4(SLC35B2):c.596G>A (p.Cys199Tyr)	POLR1C, SLC35B2 (C194Y +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302586	NM_178148.4(SLC35B2):c.896C>T (p.Ser299Leu)	POLR1C, SLC35B2 (S194L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276452	NM_178148.4(SLC35B2):c.1211C>G (p.Ala404Gly)	SLC35B2, POLR1C (A299G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241301	NM_178148.4(SLC35B2):c.545C>A (p.Pro182His)	POLR1C, SLC35B2 (P182H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241300	NM_178148.4(SLC35B2):c.425C>T (p.Ala142Val)	POLR1C, SLC35B2 (A137V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228937	NM_178148.4(SLC35B2):c.1235G>A (p.Arg412Gln)	POLR1C, SLC35B2 (R307Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226675	NM_178148.4(SLC35B2):c.1241G>C (p.Arg414Pro)	POLR1C, SLC35B2 (R321P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215050	NM_178148.4(SLC35B2):c.80C>A (p.Pro27His)	POLR1C, SLC35B2 (P27H)	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2206790	NM_178148.4(SLC35B2):c.1057C>A (p.Leu353Ile)	POLR1C, SLC35B2 (L304I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 787833	NM_178148.4(SLC35B2):c.450G>A (p.Thr150=)	POLR1C, SLC35B2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 781753	NM_178148.4(SLC35B2):c.1024C>G (p.Leu342Val)	POLR1C, SLC35B2 (L249V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Items: 41