"GeneDx"[submitter] AND "AIP"[gene] - ClinVar

Search results

Items: 91

	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 1234779	NC_000011.10:g.67482773dup	AIP	Duplication (genic upstream transcript variant)	not provided	GBenign
Select item 1798666	NM_003977.4(AIP):c.-2G>A	AIP	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1626086	NM_003977.4(AIP):c.6G>A (p.Ala2=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 388468	NM_003977.4(AIP):c.25C>T (p.Arg9Trp)	AIP (R9W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1406802	NM_003977.4(AIP):c.38T>A (p.Ile13Asn)	AIP (I13N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41184	NM_003977.4(AIP):c.47G>A (p.Arg16His)	AIP (R16H)	Single nucleotide variant (missense variant)	Familial isolated pituitary adenoma +3 more	GConflicting classifications of pathogenicity
Select item 305724	NM_003977.4(AIP):c.68G>A (p.Gly23Glu)	AIP (G23E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1063510	NM_003977.4(AIP):c.79G>C (p.Asp27His)	AIP (D27H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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)	AIP, LOC130006206 (K58N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +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
Select item 939712	NM_003977.4(AIP):c.296C>T (p.Pro99Leu)	AIP (P99L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 305726	NM_003977.4(AIP):c.301G>A (p.Val101Met)	AIP (V101M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41174	NM_003977.4(AIP):c.308A>G (p.Lys103Arg)	AIP (K103R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 823358	NM_003977.4(AIP):c.326C>T (p.Ala109Val)	AIP (A109V +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +2 more	GConflicting classifications of pathogenicity
Select item 1429865	NM_003977.4(AIP):c.334A>G (p.Lys112Glu)	AIP (K112E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 485070	NM_003977.4(AIP):c.339C>G (p.Asp113Glu)	AIP (D113E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1022825	NM_003977.4(AIP):c.341C>A (p.Pro114His)	AIP (P114H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 41176	NM_003977.4(AIP):c.383G>A (p.Arg128His)	AIP (R128H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 824530	NM_003977.4(AIP):c.403C>T (p.His135Tyr)	AIP (H135Y +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +2 more	GConflicting classifications of pathogenicity
Select item 2430920	NM_003977.4(AIP):c.427C>G (p.Gln143Glu)	AIP (Q143E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257908	NM_003977.4(AIP):c.468+111C>T	AIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189258	NM_003977.4(AIP):c.468+136A>G	AIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282286	NM_003977.4(AIP):c.468+244G>A	AIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290326	NM_003977.4(AIP):c.469-236G>T	AIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276890	NM_003977.4(AIP):c.469-147_469-144dup	AIP	Duplication (intron variant)	not provided	GBenign
Select item 825246	NM_003977.4(AIP):c.486G>A (p.Thr162=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 305728	NM_003977.4(AIP):c.516C>T (p.Asp172=)	AIP	Single nucleotide variant (synonymous variant)	Somatotroph adenoma +2 more	GBenign
Select item 305729	NM_003977.4(AIP):c.517G>A (p.Glu173Lys)	AIP (E173K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1021367	NM_003977.4(AIP):c.532G>A (p.Ala178Thr)	AIP (A119T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 825662	NM_003977.4(AIP):c.533C>T (p.Ala178Val)	AIP (A119V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1747590	NM_003977.4(AIP):c.544A>G (p.Ile182Val)	AIP (I123V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 485051	NM_003977.4(AIP):c.561C>T (p.Asn187=)	AIP	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 854882	NM_003977.4(AIP):c.562C>T (p.Arg188Trp)	AIP (R188W +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 485067	NM_003977.4(AIP):c.572G>A (p.Arg191His)	AIP (R191H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1449487	NM_003977.4(AIP):c.575A>G (p.Glu192Gly)	AIP (E133G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 41189	NM_003977.4(AIP):c.584T>C (p.Val195Ala)	AIP (V195A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 485073	NM_003977.4(AIP):c.619G>A (p.Ala207Thr)	AIP (A207T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 826413	NM_003977.4(AIP):c.645+2T>C	AIP	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1755030	NM_003977.4(AIP):c.670A>G (p.Ile224Val)	AIP (I165V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1755335	NM_003977.4(AIP):c.676C>G (p.Leu226Val)	AIP (L226V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 259205	NM_003977.4(AIP):c.682C>A (p.Gln228Lys)	AIP (Q228K +1 more)	Single nucleotide variant (missense variant)	Somatotroph adenoma +3 more	GBenign
Select item 1500699	NM_003977.4(AIP):c.685C>G (p.Gln229Glu)	AIP (Q170E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 759986	NM_003977.4(AIP):c.692C>T (p.Thr231Met)	AIP (T172M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 826929	NM_003977.4(AIP):c.724C>G (p.Leu242Val)	AIP (L242V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 826944	NM_003977.4(AIP):c.727G>T (p.Val243Leu)	AIP (V184L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2735674	NM_003977.4(AIP):c.733GAG[1] (p.Glu246del)	AIP (E187del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 826974	NM_003977.4(AIP):c.733G>A (p.Glu245Lys)	AIP (E186K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 841525	NM_003977.4(AIP):c.745G>A (p.Glu249Lys)	AIP (E190K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 305731	NM_003977.4(AIP):c.753G>A (p.Leu251=)	AIP	Single nucleotide variant (synonymous variant)	Somatotroph adenoma +2 more	GBenign/Likely benign
Select item 41204	NM_003977.4(AIP):c.769A>G (p.Ile257Val)	AIP (I257V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 41205	NM_003977.4(AIP):c.783C>T (p.Tyr261=)	AIP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 938119	NM_003977.4(AIP):c.784G>A (p.Asp262Asn)	AIP (D262N +1 more)	Single nucleotide variant (missense variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 1107627	NM_003977.4(AIP):c.787+9C>T	AIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190417	NM_003977.4(AIP):c.788-29TGCCCAC[3]	AIP	Microsatellite (intron variant)	not provided	GLikely benign
Select item 485060	NM_003977.4(AIP):c.790_792del (p.Asn264del)	AIP (N264del +2 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 41209	NM_003977.4(AIP):c.807C>T (p.Phe269=)	AIP (Q267*)	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 485056	NM_003977.4(AIP):c.827C>T (p.Ala276Val)	AIP (A276V +1 more)	Single nucleotide variant (missense variant +1 more)	Acroleukopathy, symmetric +4 more	GConflicting classifications of pathogenicity
Select item 1762871	NM_003977.4(AIP):c.830C>T (p.Ala277Val)	AIP (A218V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1320482	NM_003977.4(AIP):c.845A>G (p.Gln282Arg)	AIP (Q223R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 839402	NM_003977.4(AIP):c.874C>G (p.Leu292Val)	AIP (L233V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41214	NM_003977.4(AIP):c.896C>T (p.Ala299Val)	AIP (A299V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1318543	NM_003977.4(AIP):c.899C>T (p.Pro300Leu)	AIP (P241L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 4888	NM_003977.4(AIP):c.910C>T (p.Arg304Ter)	AIP (R304* +1 more)	Single nucleotide variant (nonsense +1 more)	Somatotroph adenoma +2 more	GPathogenic
Select item 4893	NM_003977.4(AIP):c.911G>A (p.Arg304Gln)	AIP (R304Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1473496	NM_003977.4(AIP):c.913G>A (p.Glu305Lys)	AIP (E246K +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 823086	NM_003977.4(AIP):c.919C>T (p.Arg307Trp)	AIP (R307W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 259206	NM_003977.4(AIP):c.920= (p.Arg307=)	AIP	Single nucleotide variant (no sequence alteration)	not specified +3 more	GBenign
Select item 823223	NM_003977.4(AIP):c.940C>T (p.Arg314Trp)	AIP (R314W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 305734	NM_003977.4(AIP):c.944A>C (p.Gln315Pro)	AIP (Q315P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 823287	NM_003977.4(AIP):c.949G>T (p.Asp317Tyr)	AIP (D258Y +1 more)	Single nucleotide variant (missense variant +1 more)	Somatotroph adenoma +3 more	GUncertain significance
Select item 485063	NM_003977.4(AIP):c.967C>T (p.Arg323Trp)	AIP (R323W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 823446	NM_003977.4(AIP):c.973C>T (p.Arg325Trp)	AIP (R266W +1 more)	Single nucleotide variant (missense variant +1 more)	Somatotroph adenoma +2 more	GUncertain significance
Select item 823449	NM_003977.4(AIP):c.974G>A (p.Arg325Gln)	AIP (R266Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 305735	NM_003977.4(AIP):c.*60G>C	AIP	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 3360870	NM_003977.4(AIP):c.122T>C (p.Leu41Pro)	AIP (L41P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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Items: 91