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

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1230878	NC_000002.12:g.38665694T>C	GALM	Single nucleotide variant	not provided	GBenign
Select item 1295009	NC_000002.12:g.38665926A>G	GALM	Single nucleotide variant	not provided	GBenign
Select item 1233861	NC_000002.12:g.38666042G>A	GALM	Single nucleotide variant	not provided	GBenign
Select item 1259664	NM_138801.3(GALM):c.147G>A (p.Gln49=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1274627	NM_138801.3(GALM):c.190+167A>G	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290378	NM_138801.3(GALM):c.190+184G>A	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179258	NM_138801.3(GALM):c.191-128T>C	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295014	NM_138801.3(GALM):c.191-100G>T	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268639	NM_138801.3(GALM):c.191-32T>A	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281134	NM_138801.3(GALM):c.346-137dup	GALM	Duplication (intron variant)	not provided	GBenign
Select item 1239167	NM_138801.3(GALM):c.346-137del	GALM	Deletion (intron variant)	not provided	GBenign
Select item 1246262	NM_138801.3(GALM):c.553-49T>C	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222775	NM_138801.3(GALM):c.568A>T (p.Asn190Tyr)	GALM (N190Y)	Single nucleotide variant (missense variant)	Galactosemia 4 +1 more	GBenign
Select item 1267486	NM_138801.3(GALM):c.634+127T>C	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287416	NM_138801.3(GALM):c.635-193ATTT[6]	GALM	Microsatellite (intron variant)	not provided	GBenign
Select item 1278542	NM_138801.3(GALM):c.776+108A>G	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183599	NM_138801.3(GALM):c.776+216T>C	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273112	NM_138801.3(GALM):c.952-185A>G	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282077	NM_138801.3(GALM):c.952-139A>G	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238925	NM_138801.3(GALM):c.*116A>G	GALM	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 20