Variants in gene GALC with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 17

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)	rs147313927	0.00229
NM_000153.4(GALC):c.349A>G (p.Met117Val)	rs145580093	0.00057
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)	rs201422931	0.00014
NM_000153.4(GALC):c.2041G>A (p.Val681Met)	rs200607029	0.00004
NM_000153.4(GALC):c.1671-1G>A	rs1182103005	0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)	rs373077659	0.00002
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu)	rs1365128831	0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)	rs766762599	0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)	rs1436074042	0.00001
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)	rs1349064845	0.00001
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
NM_000153.4(GALC):c.1158_1161+6del	rs759068540
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)	rs202135871
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)	rs794727116
NM_000153.4(GALC):c.411_413del (p.Lys139del)	rs1555383687
NM_000153.4(GALC):c.621G>A (p.Lys207=)	rs1428763453

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