ClinVar for MedGen (Select 1859086) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3575262	NM_000239.3(LYZ):c.442G>A (p.Val148Met)	LYZ (V148M)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575261	NM_000239.3(LYZ):c.416T>C (p.Val139Ala)	LYZ (V139A)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575260	NM_000239.3(LYZ):c.381-1G>A	LYZ	Single nucleotide variant (splice acceptor variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575259	NM_000239.3(LYZ):c.381-2A>T	LYZ	Single nucleotide variant (splice acceptor variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575258	NM_000239.3(LYZ):c.322G>A (p.Ala108Thr)	LYZ (A108T)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575257	NM_000239.3(LYZ):c.302-7_302-5dup	LYZ	Duplication (intron variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575256	NM_000239.3(LYZ):c.281C>G (p.Ala94Gly)	LYZ (A94G)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575255	NM_000239.3(LYZ):c.239G>A (p.Arg80His)	LYZ (R80H)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GLikely benign
Select item 3575254	NM_000239.3(LYZ):c.238C>T (p.Arg80Cys)	LYZ (R80C)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575253	NM_000239.3(LYZ):c.228G>A (p.Gln76=)	LYZ	Single nucleotide variant (synonymous variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575252	NM_000239.3(LYZ):c.176G>A (p.Arg59Gln)	LYZ (R59Q)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575251	NM_000239.3(LYZ):c.156G>T (p.Trp52Cys)	LYZ (W52C)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575250	NM_000239.3(LYZ):c.107A>G (p.Asp36Gly)	LYZ (D36G)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575249	NM_000239.3(LYZ):c.44_45delinsTT (p.Thr15Ile)	LYZ (T15I)	Indel (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575247	NM_000239.3(LYZ):c.10C>T (p.Leu4Phe)	LYZ (L4F)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3575246	NM_000239.3(LYZ):c.5A>G (p.Lys2Arg)	LYZ (K2R)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 3541465	NM_000239.3(LYZ):c.398G>A (p.Arg133His)	LYZ (R133H)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5 +1 more	GLikely benign
Select item 2319596	NM_000239.3(LYZ):c.40G>T (p.Val14Phe)	LYZ (V14F)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5 +1 more	GConflicting classifications of pathogenicity
Select item 2142972	NM_000239.3(LYZ):c.230T>C (p.Ile77Thr)	LYZ (I77T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882899	NM_000239.3(LYZ):c.151A>T (p.Lys51Ter)	LYZ (K51*)	Single nucleotide variant (nonsense)	Amyloidosis, hereditary systemic 5 +1 more	GConflicting classifications of pathogenicity
Select item 14377	NM_000239.3(LYZ):c.223T>A (p.Phe75Ile)	LYZ (F75I)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GPathogenic
Select item 14375	NM_000239.3(LYZ):c.199G>C (p.Asp67His)	LYZ (D67H)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GUncertain significance
Select item 14374	NM_000239.3(LYZ):c.221T>C (p.Ile74Thr)	LYZ (I74T)	Single nucleotide variant (missense variant)	Amyloidosis, hereditary systemic 5	GPathogenic

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Items: 23