"GeneDx"[submitter] AND "LOC130006206"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 596138	NM_003977.4(AIP):c.100-18C>T	AIP, LOC130006206	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 818567	NM_003977.4(AIP):c.119C>T (p.Thr40Met)	AIP, LOC130006206 (T40M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 259204	NM_003977.4(AIP):c.132C>T (p.Asp44=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 1040600	NM_003977.4(AIP):c.133G>A (p.Asp45Asn)	AIP, LOC130006206 (D45N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1770561	NM_003977.4(AIP):c.134A>T (p.Asp45Val)	AIP, LOC130006206 (D45V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1516459	NM_003977.4(AIP):c.145G>T (p.Val49Leu)	AIP, LOC130006206 (V49L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 41164	NM_003977.4(AIP):c.145G>A (p.Val49Met)	AIP, LOC130006206 (V49M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 819642	NM_003977.4(AIP):c.159C>T (p.Ser53=)	AIP, LOC130006206	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
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 877266	NM_003977.4(AIP):c.166C>T (p.Arg56Cys)	AIP, LOC130006206 (R56C)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 1508933	NM_003977.4(AIP):c.178A>G (p.Met60Val)	AIP, LOC130006206 (M60V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2500438	NM_003977.4(AIP):c.182A>T (p.Glu61Val)	AIP, LOC130006206 (E2V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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