"Baylor Genetics"[submitter] AND "LOC130006206"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 485058	NM_003977.4(AIP):c.104C>T (p.Thr35Met)	AIP, LOC130006206 (T35M)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 861039	NM_003977.4(AIP):c.115C>T (p.Arg39Trp)	AIP, LOC130006206 (R39W)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 818481	NM_003977.4(AIP):c.116G>A (p.Arg39Gln)	LOC130006206, AIP (R39Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 819007	NM_003977.4(AIP):c.136G>A (p.Glu46Lys)	AIP, LOC130006206 (E46K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 819117	NM_003977.4(AIP):c.139G>A (p.Gly47Ser)	AIP, LOC130006206 (G47S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1430344	NM_003977.4(AIP):c.140G>A (p.Gly47Asp)	AIP, LOC130006206 (G47D)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 819423	NM_003977.4(AIP):c.151G>A (p.Asp51Asn)	AIP, LOC130006206 (D51N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 819659	NM_003977.4(AIP):c.160C>T (p.Arg54Trp)	AIP, LOC130006206 (R54W)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 819687	NM_003977.4(AIP):c.161G>A (p.Arg54Gln)	AIP, LOC130006206 (R54Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1022659	NM_003977.4(AIP):c.164C>T (p.Ala55Val)	AIP, LOC130006206 (A55V)	Single nucleotide variant (5 prime UTR variant +1 more)	Somatotroph adenoma +2 more	GConflicting classifications of pathogenicity
Select item 41166	NM_003977.4(AIP):c.174G>C (p.Lys58Asn)	LOC130006206, AIP (K58N)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 820621	NM_003977.4(AIP):c.205A>G (p.Lys69Glu)	AIP, LOC130006206 (K69E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 387905	NM_003977.4(AIP):c.226A>G (p.Ile76Val)	AIP, LOC130006206 (I76V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1790270	NM_003977.4(AIP):c.236C>T (p.Thr79Ile)	AIP, LOC130006206 (T20I +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +2 more	GUncertain significance
Select item 1491142	NM_003977.4(AIP):c.238A>C (p.Met80Leu)	AIP, LOC130006206 (M80L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1017703	NM_003977.4(AIP):c.261G>C (p.Gln87His)	AIP, LOC130006206 (Q28H +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +2 more	GUncertain significance