"GeneDx"[submitter] AND "B4GALNT1"[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1242221	NM_001478.5(B4GALNT1):c.*167T>C	B4GALNT1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 387791	NM_001478.5(B4GALNT1):c.*2G>A	B4GALNT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 848217	NM_001478.5(B4GALNT1):c.1556G>C (p.Arg519Pro)	B4GALNT1 (R464P +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 235331	NM_001478.5(B4GALNT1):c.1547C>T (p.Ala516Val)	B4GALNT1 (A516V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 835530	NM_001478.5(B4GALNT1):c.1545G>A (p.Met515Ile)	B4GALNT1 (M460I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26 +3 more	GUncertain significance
Select item 383660	NM_001478.5(B4GALNT1):c.1455C>G (p.Ser485=)	B4GALNT1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 451967	NM_001478.5(B4GALNT1):c.1400G>A (p.Gly467Glu)	B4GALNT1 (G467E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 386003	NM_001478.5(B4GALNT1):c.1385-10C>T	B4GALNT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1217472	NM_001478.5(B4GALNT1):c.1385-81C>T	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266146	NM_001478.5(B4GALNT1):c.1385-189C>T	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183249	NM_001478.5(B4GALNT1):c.1384+310C>G	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253126	NM_001478.5(B4GALNT1):c.1384+205_1384+206del	B4GALNT1	Deletion (intron variant)	not provided	GBenign
Select item 1175493	NM_001478.5(B4GALNT1):c.1384+206del	B4GALNT1	Deletion (intron variant)	not provided	GBenign
Select item 1344917	NM_001478.5(B4GALNT1):c.1384+205T>A	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308411	NM_001478.5(B4GALNT1):c.1349G>A (p.Gly450Asp)	B4GALNT1 (G395D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308878	NM_001478.5(B4GALNT1):c.1291G>A (p.Val431Ile)	B4GALNT1 (V376I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 972954	NM_001478.5(B4GALNT1):c.1162_1164dup (p.Glu388dup)	B4GALNT1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 413848	NM_001478.5(B4GALNT1):c.1135C>T (p.Leu379=)	B4GALNT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 239025	NM_001478.5(B4GALNT1):c.1119G>A (p.Val373=)	B4GALNT1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GBenign
Select item 2304138	NM_001478.5(B4GALNT1):c.1094C>G (p.Thr365Arg)	B4GALNT1 (T332R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2662405	NM_001478.5(B4GALNT1):c.1077C>A (p.Phe359Leu)	B4GALNT1 (F304L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426919	NM_001478.5(B4GALNT1):c.1034C>T (p.Ser345Phe)	B4GALNT1 (S345F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321565	NM_001478.5(B4GALNT1):c.1031T>C (p.Val344Ala)	B4GALNT1 (V289A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 413846	NM_001478.5(B4GALNT1):c.1024C>T (p.Leu342=)	B4GALNT1	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GBenign
Select item 1274408	NM_001478.5(B4GALNT1):c.1003-29C>T	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321538	NM_001478.5(B4GALNT1):c.1003-37T>C	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 239027	NM_001478.5(B4GALNT1):c.880G>A (p.Ala294Thr)	B4GALNT1 (A294T +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 413845	NM_001478.5(B4GALNT1):c.812-7A>T	B4GALNT1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 239026	NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg)	B4GALNT1 (G265R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 26 +3 more	GBenign/Likely benign
Select item 1321562	NM_001478.5(B4GALNT1):c.791C>G (p.Pro264Arg)	B4GALNT1 (P209R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695484	NM_001478.5(B4GALNT1):c.768G>A (p.Pro256=)	B4GALNT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3367801	NM_001478.5(B4GALNT1):c.736G>A (p.Glu246Lys)	B4GALNT1 (E191K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 432910	NM_001478.5(B4GALNT1):c.715C>T (p.Arg239Trp)	B4GALNT1 (R239W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268755	NM_001478.5(B4GALNT1):c.713-85_713-84del	B4GALNT1	Microsatellite (intron variant)	not provided	GBenign
Select item 680194	NM_001478.5(B4GALNT1):c.712+342T>G	B4GALNT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1215440	NM_001478.5(B4GALNT1):c.712+194G>A	B4GALNT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 380770	NM_001478.5(B4GALNT1):c.666G>T (p.Leu222=)	B4GALNT1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3369026	NM_001478.5(B4GALNT1):c.532-1G>C	B4GALNT1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 511996	NM_001478.5(B4GALNT1):c.532-12A>G	B4GALNT1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1212495	NM_001478.5(B4GALNT1):c.531+72G>A	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380791	NM_001478.5(B4GALNT1):c.514G>C (p.Gly172Arg)	B4GALNT1 (G172R +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GBenign
Select item 429501	NM_001478.5(B4GALNT1):c.509C>T (p.Ala170Val)	B4GALNT1 (A170V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274984	NM_001478.5(B4GALNT1):c.491-84G>A	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261674	NM_001478.5(B4GALNT1):c.491-91CT[3]	B4GALNT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1292520	NM_001478.5(B4GALNT1):c.490+137C>G	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 426168	NM_001478.5(B4GALNT1):c.490+1G>A	B4GALNT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 565398	NM_001478.5(B4GALNT1):c.440A>G (p.Tyr147Cys)	B4GALNT1 (Y147C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 506695	NM_001478.5(B4GALNT1):c.383+19C>T	B4GALNT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 664072	NM_001478.5(B4GALNT1):c.380C>T (p.Ser127Leu)	B4GALNT1 (S127L)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance
Select item 60526	NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter)	B4GALNT1 (Q120*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 60525	NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)	B4GALNT1 (L89fs)	Duplication (frameshift variant +1 more)	Hereditary spastic paraplegia 26 +3 more	GPathogenic/Likely pathogenic
Select item 508721	NM_001478.5(B4GALNT1):c.219-7C>T	B4GALNT1	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign
Select item 1238357	NM_001478.5(B4GALNT1):c.218+202G>T	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308333	NM_001478.5(B4GALNT1):c.214G>A (p.Val72Met)	B4GALNT1 (V72M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452324	NM_001478.5(B4GALNT1):c.139del (p.Arg47fs)	B4GALNT1 (R47fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1194679	NM_001478.5(B4GALNT1):c.118T>G (p.Trp40Gly)	B4GALNT1 (W40G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380769	NM_001478.5(B4GALNT1):c.103C>G (p.Leu35Val)	B4GALNT1 (L35V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1292969	NM_001478.5(B4GALNT1):c.-1-85C>T	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178203	NM_001478.5(B4GALNT1):c.-1-105T>C	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227831	NM_001478.5(B4GALNT1):c.-1-243T>A	B4GALNT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1334368	NM_001478.5(B4GALNT1):c.-233C>A	B4GALNT1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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Items: 61