ClinVar for MedGen (Select 1680067) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3500838	NM_003676.4(DEGS1):c.250A>G (p.Met84Val)	DEGS1 (M48V +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18 +1 more	GUncertain significance
Select item 3065976	NM_003676.4(DEGS1):c.383A>T (p.His128Leu)	DEGS1 (H128L +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GUncertain significance
Select item 3062080	NM_003676.4(DEGS1):c.775C>T (p.His259Tyr)	DEGS1 (H223Y +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 2584783	NM_003676.4(DEGS1):c.2T>C (p.Met1Thr)	DEGS1 (M1T)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 2502429	NM_003676.4(DEGS1):c.826-1G>A	DEGS1	Single nucleotide variant (splice acceptor variant)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 1172541	NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer)	DEGS1	Deletion (3 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 18	GPathogenic/Likely pathogenic
Select item 805860	NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp)	DEGS1 (N153D +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GConflicting classifications of pathogenicity
Select item 805859	NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp)	DEGS1 (R133W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 805858	NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter)	DEGS1 (R173* +1 more)	Single nucleotide variant (nonsense)	Leukodystrophy, hypomyelinating, 18	GPathogenic/Likely pathogenic
Select item 805857	NM_003676.4(DEGS1):c.878G>A (p.Trp293Ter)	DEGS1 (W293* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 18	GUncertain significance
Select item 805856	NM_003676.4(DEGS1):c.110T>C (p.Met37Thr)	DEGS1 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy, hypomyelinating, 18	GConflicting classifications of pathogenicity
Select item 626330	NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter)	DEGS1 (W107* +1 more)	Single nucleotide variant (nonsense)	Leukodystrophy, hypomyelinating, 18	GPathogenic/Likely pathogenic
Select item 626329	NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp)	DEGS1 (N113D +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 626328	NM_003676.4(DEGS1):c.604del (p.Tyr202fs)	DEGS1 (Y166fs +1 more)	Deletion (frameshift variant)	Leukodystrophy, hypomyelinating, 18	GPathogenic
Select item 626327	NM_003676.4(DEGS1):c.341_342del (p.Leu114fs)	DEGS1 (L78fs +1 more)	Deletion (frameshift variant)	Leukodystrophy, hypomyelinating, 18	GPathogenic
Select item 626325	NM_003676.4(DEGS1):c.395A>G (p.His132Arg)	DEGS1 (H132R +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GConflicting classifications of pathogenicity
Select item 626324	NM_003676.4(DEGS1):c.839C>T (p.Ala280Val)	DEGS1 (A280V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 625852	NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser)	DEGS1 (N255S +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GPathogenic