Resins, petroleum, aliphatic - ClinVar - NCBI

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Items: 13

The following terms were not found in ClinVar: Resins, petroleum.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40617	NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)	RAF1 (F475L +5 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1NN +4 more	GPathogenic/Likely pathogenic
Select item 15588	NM_000518.4(HBB):c.404T>C (p.Val135Ala)	LOC107133510, LOC110006319 +1 more (V135A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 984952	NM_003922.4(HERC1):c.14072G>C (p.Arg4691Pro)	HERC1 (R4691P)	Single nucleotide variant (missense variant)	Macrocephaly, dysmorphic facies, and psychomotor retardation	GPathogenic
Select item 4252	NM_001080467.3(MYO5B):c.1979C>T (p.Pro660Leu)	MYO5B (P660L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 327073	NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg)	MYO5B (G316R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1065519	NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs)	IDS (I397fs +1 more)	Duplication (frameshift variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 1065198	NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs)	IDS (S391fs +1 more)	Indel (frameshift variant)	Mucopolysaccharidosis, MPS-II	GLikely pathogenic
Select item 10487	NM_000202.8(IDS):c.998C>T (p.Ser333Leu)	IDS, LOC106050102 (S333L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +1 more	GPathogenic
Select item 427181	NM_000202.8(IDS):c.806A>T (p.Asp269Val)	IDS, LOC106050102 (D269V +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II +2 more	GLikely pathogenic
Select item 1065825	NM_000202.8(IDS):c.692C>T (p.Pro231Leu)	IDS, LOC106050102 (P141L +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic/Likely pathogenic
Select item 1065348	NM_000202.8(IDS):c.356del (p.Ile119fs)	IDS (I119fs +1 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-II	GPathogenic
Select item 1065310	NM_000202.8(IDS):c.121_123del (p.Leu41del)	IDS (L41del)	Deletion (inframe_deletion +2 more)	Mucopolysaccharidosis, MPS-II	GConflicting classifications of pathogenicity
Select item 9675	NC_012920.1(MT-CYB):m.15812G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign