ClinVar for MedGen (Select 66381) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1379085	NM_005154.5(USP8):c.2108C>A (p.Pro703His)	USP8 (P597H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1117565	NM_003977.4(AIP):c.792C>T (p.Asn264=)	AIP (R262C)	Single nucleotide variant (synonymous variant +1 more)	Pituitary dependent hypercortisolism +3 more	GLikely benign
Select item 824564	NM_003977.4(AIP):c.406G>T (p.Ala136Ser)	AIP (A136S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 548911	NM_001370259.2(MEN1):c.913-42G>C	MEN1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 485072	NM_003977.4(AIP):c.355C>T (p.Arg119Trp)	AIP (R119W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 485056	NM_003977.4(AIP):c.827C>T (p.Ala276Val)	AIP (A276V +1 more)	Single nucleotide variant (missense variant +1 more)	Somatotroph adenoma +4 more	GConflicting classifications of pathogenicity
Select item 485052	NM_003977.4(AIP):c.26G>A (p.Arg9Gln)	AIP (R9Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 161995	NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)	USP8 (P720R +1 more)	Single nucleotide variant (missense variant)	Pituitary dependent hypercortisolism	GPathogenic
Select item 161994	NM_005154.3(USP8):c.[2138T>G;2150A>G]	USP8 (Y717C +3 more)	Single nucleotide variant (missense variant)	Pituitary dependent hypercortisolism	GPathogenic
Select item 161993	NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)	USP8 (S718C +1 more)	Single nucleotide variant (missense variant)	Pituitary dependent hypercortisolism	GPathogenic
Select item 161992	NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)	USP8 (S718P +1 more)	Single nucleotide variant (missense variant)	Pituitary dependent hypercortisolism	GPathogenic
Select item 161991	NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)	USP8 (S719del +1 more)	Microsatellite (inframe_deletion)	Pituitary dependent hypercortisolism	GPathogenic
Select item 15905	NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)	GNAI2 (R179G +4 more)	Single nucleotide variant (missense variant)	Pituitary dependent hypercortisolism	GPathogenic
Select item 4893	NM_003977.4(AIP):c.911G>A (p.Arg304Gln)	AIP (R304Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity