C2749659[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4071	NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)	SAMHD1 (Q548* +1 more)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 126409	NM_015474.4(SAMHD1):c.1609-1G>C	SAMHD1	Single nucleotide variant (splice acceptor variant)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 4073	NM_015474.4(SAMHD1):c.760A>G (p.Met254Val)	SAMHD1 (M254V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 4066	NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)	SAMHD1 (G209S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GLikely pathogenic
Select item 30605	NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)	SAMHD1 (I201N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 4069	NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)	SAMHD1 (R164*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5	GPathogenic/Likely pathogenic
Select item 4070	NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)	SAMHD1 (Q149*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 4067	NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)	SAMHD1 (R145*)	Single nucleotide variant (nonsense)	Aicardi-Goutieres syndrome 5 +1 more	GPathogenic
Select item 30604	NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)	SAMHD1 (R143C)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GLikely pathogenic
Select item 4072	NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)	SAMHD1 (H123P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5	GPathogenic
Select item 30603	NM_015474.3(SAMHD1):c.-6085_209-1941del	LOC130065805, SAMHD1	Deletion	Aicardi-Goutieres syndrome 5	GPathogenic