"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GALK1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 749786	NM_000213.5(ITGB4):c.3885C>T (p.Arg1295=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GLikely benign
Select item 1439340	NM_000213.5(ITGB4):c.4018G>A (p.Gly1340Arg)	GALK1, ITGB4 (G1340R)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 892369	NM_000213.5(ITGB4):c.4064G>A (p.Arg1355His)	GALK1, ITGB4 (R1355H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 888974	NM_000213.5(ITGB4):c.4402G>A (p.Ala1468Thr)	GALK1, ITGB4 (A1468T +1 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 777221	NM_000213.5(ITGB4):c.4417C>T (p.Leu1473=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 817024	NM_000213.5(ITGB4):c.4635_4636del (p.Arg1545fs)	GALK1, ITGB4 (R1475fs +2 more)	Microsatellite (frameshift variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GPathogenic/Likely pathogenic
Select item 889660	NM_000213.5(ITGB4):c.4652C>T (p.Pro1551Leu)	GALK1, ITGB4 (P1481L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1173102	NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln)	GALK1, ITGB4 (R1485Q +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa, non-Herlitz type +3 more	GUncertain significance
Select item 325199	NM_000213.5(ITGB4):c.4707C>T (p.Gly1569=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 1211557	NM_000213.5(ITGB4):c.4709-8C>A	GALK1, ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 1490872	NM_000213.5(ITGB4):c.4751C>T (p.Ser1584Leu)	GALK1, ITGB4 (S1567L +2 more)	Single nucleotide variant (missense variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +3 more	GUncertain significance
Select item 595641	NM_000213.5(ITGB4):c.4834C>T (p.Arg1612Cys)	GALK1, ITGB4 (R1542C +2 more)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GUncertain significance
Select item 1312428	NM_000213.5(ITGB4):c.4841G>A (p.Gly1614Asp)	GALK1, ITGB4 (G1544D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1012431	NM_000213.5(ITGB4):c.4857A>G (p.Glu1619=)	ITGB4, GALK1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 719110	NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GLikely benign
Select item 973871	NM_000213.5(ITGB4):c.5091del (p.Glu1698fs)	GALK1, ITGB4 (E1628fs +2 more)	Deletion (frameshift variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GConflicting classifications of pathogenicity
Select item 711692	NM_000213.5(ITGB4):c.5091C>T (p.Pro1697=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1529659	NM_000213.5(ITGB4):c.5121C>T (p.Ser1707=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1321465	NM_000213.5(ITGB4):c.5128G>A (p.Val1710Met)	GALK1, ITGB4 (V1640M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 325213	NM_000213.5(ITGB4):c.5179G>C (p.Glu1727Gln)	GALK1, ITGB4 (E1727Q +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 552889	NM_000213.5(ITGB4):c.5218+2T>C	GALK1, ITGB4	Single nucleotide variant (splice donor variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia +5 more	GConflicting classifications of pathogenicity
Select item 1589455	NM_000213.5(ITGB4):c.5218+12T>C	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1579019	NM_000213.5(ITGB4):c.5248G>A (p.Gly1750Arg)	ITGB4, GALK1 (G1680R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 889725	NM_000213.5(ITGB4):c.5264C>T (p.Pro1755Leu)	GALK1, ITGB4 (P1738L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 889726	NM_000213.5(ITGB4):c.5273G>A (p.Ser1758Asn)	GALK1, ITGB4 (S1758N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 710578	NM_000213.5(ITGB4):c.5307C>T (p.Ser1769=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 889728	NM_000213.5(ITGB4):c.5314G>A (p.Glu1772Lys)	GALK1, ITGB4 (E1702K +2 more)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 597919	NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)	GALK1 (G346S)	Single nucleotide variant (missense variant)	Deficiency of galactokinase +1 more	GConflicting classifications of pathogenicity
Select item 1458950	NM_000154.2(GALK1):c.364del (p.Leu122fs)	GALK1 (L122fs)	Deletion (frameshift variant)	Deficiency of galactokinase	GPathogenic/Likely pathogenic
Select item 5630	NM_000154.2(GALK1):c.82C>A (p.Pro28Thr)	GALK1 (P28T)	Single nucleotide variant (missense variant)	Deficiency of galactokinase +1 more	GPathogenic

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Items: 30