ClinVar for MedGen (Select 163092) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180837	NM_003126.4(SPTA1):c.5308C>T (p.Gln1770Ter)	SPTA1 (Q1770*)	Single nucleotide variant (nonsense)	Abnormality of blood and blood-forming tissues	GLikely pathogenic
Select item 1180835	NM_000135.4(FANCA):c.1150_1163del (p.Val384fs)	FANCA (V384fs)	Deletion (frameshift variant)	Abnormality of blood and blood-forming tissues	GPathogenic
Select item 1180812	NM_000135.4(FANCA):c.2504+1G>C	FANCA	Single nucleotide variant (splice donor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 1180779	NM_033022.4(RPS24):c.69+1G>T	RPS24	Single nucleotide variant (splice donor variant)	Abnormality of blood and blood-forming tissues	GLikely pathogenic
Select item 1180707	NM_000377.3(WAS):c.1295dup (p.Ala433fs)	WAS (A433fs)	Duplication (frameshift variant)	Abnormality of blood and blood-forming tissues	GLikely pathogenic
Select item 1180613	NM_005236.3(ERCC4):c.715G>A (p.Glu239Lys)	ERCC4 (E239K)	Single nucleotide variant (missense variant)	Abnormality of blood and blood-forming tissues	GLikely pathogenic
Select item 1067427	NM_004629.2(FANCG):c.647-2_649del	FANCG	Deletion (splice acceptor variant)	Fanconi anemia +1 more	GLikely pathogenic
Select item 552188	NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)	RTEL1, RTEL1-TNFRSF6B (Q1044* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dyskeratosis congenita, autosomal recessive 5 +1 more	GPathogenic/Likely pathogenic
Select item 487654	NM_001791.4(CDC42):c.511G>A (p.Glu171Lys)	CDC42 (E171K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 487653	NM_001791.4(CDC42):c.476C>T (p.Ala159Val)	CDC42 (A159V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 487652	NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)	CDC42 (S83P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 450370	NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)	CDC42 (R68Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 432071	NM_001791.4(CDC42):c.242G>T (p.Cys81Phe)	CDC42 (C81F)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +1 more	GLikely pathogenic
Select item 422537	NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)	CDC42 (I21T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 218950	NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)	CDC42 (Y64C)	Single nucleotide variant (missense variant)	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +2 more	GPathogenic/Likely pathogenic
Select item 208731	NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)	CDC42 (Y23C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 208668	NM_001791.4(CDC42):c.196A>G (p.Arg66Gly)	CDC42 (R66G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 298	NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter)	VWF (R1853*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic