16487[HGNC] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 155302	GRCh38/hg38 17q11.2(chr17:30599358-31009835)x1	ADAP2, ATAD5 +24 more	Copy number loss	See cases	GUncertain significance
Select item 155193	GRCh38/hg38 17q11.2(chr17:30614048-30999204)x1	ADAP2, ATAD5 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 144773	GRCh38/hg38 17q11.2(chr17:30614048-30969331)x1	ADAP2, ATAD5 +19 more	Copy number loss	See cases	GUncertain significance
Select item 153736	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1	ADAP2, ATAD5 +73 more	Copy number loss	See cases	GPathogenic
Select item 58136	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3	ADAP2, ATAD5 +74 more	Copy number gain	See cases	GPathogenic
Select item 145059	GRCh38/hg38 17q11.2(chr17:30642544-31005259)x3	ADAP2, ATAD5 +21 more	Copy number gain	See cases	GUncertain significance
Select item 59306	GRCh38/hg38 17q11.2(chr17:30650145-31015565)x3	ADAP2, ATAD5 +21 more	Copy number gain	See cases	GUncertain significance
Select item 1678524	NC_000017.11:g.30660608_31159168inv	ADAP2, ATAD5 +27 more	Inversion	Neurofibromatosis, type 1	GPathogenic
Select item 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 more	Copy number loss	See cases	GPathogenic
Select item 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	See cases	GPathogenic
Select item 60460	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	See cases	GUncertain significance
Select item 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 151510	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1	ADAP2, ATAD5 +68 more	Copy number loss	See cases	GPathogenic
Select item 150276	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 more	Copy number loss	See cases	GPathogenic
Select item 148464	GRCh38/hg38 17q11.2(chr17:30706864-31016678)x1	ADAP2, ATAD5 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 57031	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3	ADAP2, ATAD5 +72 more	Copy number gain	See cases	GPathogenic
Select item 34989	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3	ADAP2, ATAD5 +65 more	Copy number gain	See cases	GUncertain significance
Select item 60462	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1	ADAP2, ATAD5 +62 more	Copy number loss	See cases	GPathogenic
Select item 154090	GRCh38/hg38 17q11.2(chr17:30831320-31322174)x3	ADAP2, ATAD5 +29 more	Copy number gain	See cases	GUncertain significance
Select item 60138	GRCh38/hg38 17q11.2(chr17:30893477-30993653)x3	ADAP2, ATAD5 +13 more	Copy number gain	See cases	GUncertain significance
Select item 3080045	NM_018404.3(ADAP2):c.40C>G (p.Leu14Val)	ADAP2, LOC130060645 (L14V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268693	NM_018404.3(ADAP2):c.100G>A (p.Asp34Asn)	ADAP2 (D34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080020	NM_018404.3(ADAP2):c.211G>C (p.Asp71His)	ADAP2 (D71H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620414	NM_018404.3(ADAP2):c.217A>G (p.Ile73Val)	ADAP2 (I73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080029	NM_018404.3(ADAP2):c.229A>T (p.Met77Leu)	ADAP2 (M83L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330906	NM_018404.3(ADAP2):c.251G>A (p.Arg84His)	ADAP2 (R84H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080034	NM_018404.3(ADAP2):c.258G>T (p.Lys86Asn)	ADAP2 (K92N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486753	NM_018404.3(ADAP2):c.295A>C (p.Ile99Leu)	ADAP2 (I99L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080040	NM_018404.3(ADAP2):c.316C>G (p.Leu106Val)	ADAP2 (L106V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550720	NM_018404.3(ADAP2):c.359G>A (p.Arg120Gln)	ADAP2 (R120Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207892	NM_018404.3(ADAP2):c.434A>G (p.Asp145Gly)	ADAP2 (D145G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481016	NM_018404.3(ADAP2):c.482G>T (p.Gly161Val)	ADAP2 (G161V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344457	NM_018404.3(ADAP2):c.518G>T (p.Ser173Ile)	ADAP2 (S173I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268709	NM_018404.3(ADAP2):c.650G>A (p.Ser217Asn)	ADAP2 (S217N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314314	NM_018404.3(ADAP2):c.651T>A (p.Ser217Arg)	ADAP2 (S217R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268702	NM_018404.3(ADAP2):c.665T>A (p.Val222Glu)	ADAP2 (V228E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327162	NM_018404.3(ADAP2):c.686G>A (p.Arg229His)	ADAP2 (R235H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341670	NM_018404.3(ADAP2):c.785T>C (p.Met262Thr)	ADAP2 (M268T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511460	NM_018404.3(ADAP2):c.835G>A (p.Ala279Thr)	ADAP2 (A279T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210341	NM_018404.3(ADAP2):c.892G>A (p.Glu298Lys)	ADAP2 (E297K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268711	NM_018404.3(ADAP2):c.899G>T (p.Gly300Val)	ADAP2 (G299V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080072	NM_018404.3(ADAP2):c.929G>T (p.Gly310Val)	ADAP2 (G309V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268685	NM_018404.3(ADAP2):c.964C>G (p.Arg322Gly)	ADAP2 (R328G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470255	NM_018404.3(ADAP2):c.1018G>C (p.Val340Leu)	ADAP2 (V339L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 91999	NM_018404.3(ADAP2):c.1105C>T (p.Arg369Trp)	ADAP2 (R369W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2327329	NM_018404.3(ADAP2):c.1132C>A (p.Arg378Ser)	ADAP2 (R352S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242851	NC_000017.10:g.(?_28524804)_(29624377_?)del	ADAP2, ATAD5 +11 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 3237178	GRCh37/hg19 17q11.2(chr17:29000019-30416429)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +3 more	GPathogenic
Select item 3063487	GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1	ADAP2, ATAD5 +28 more	Copy number loss	not specified	GPathogenic
Select item 2685600	GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1	ADAP2, ATAD5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2671621	Single allele	ADAP2, ATAD5 +13 more	Deletion	not provided	GPathogenic
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	CORO6, ABHD15 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1710521	GRCh37/hg19 17q11.2(chr17:29076232-30043725)x1	ADAP2, ATAD5 +9 more	Copy number loss	not provided	GPathogenic
Select item 1703547	GRCh37/hg19 17q11.2(chr17:28993036-30412788)	ADAP2, ATAD5 +13 more	Copy number loss	Neurofibromatosis, type 1 +1 more	GPathogenic
Select item 1172820	Single allele	ADAP2, ATAD5 +13 more	Deletion	Cerebral palsy	GPathogenic
Select item 980156	GRCh37/hg19 17q11.2(chr17:28931870-29336853)x1	ADAP2, ATAD5 +3 more	Copy number loss	not provided	GUncertain significance
Select item 980155	GRCh37/hg19 17q11.2(chr17:29061631-29305516)x3	ADAP2, ATAD5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980153	GRCh37/hg19 17q11.2(chr17:29039844-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 815923	GRCh37/hg19 17q11.2(chr17:29088218-30159137)x1	ADAP2, ATAD5 +9 more	Copy number loss	not provided	GPathogenic
Select item 688115	GRCh37/hg19 17q11.2(chr17:29054315-30391711)x3	ADAP2, ATAD5 +13 more	Copy number gain	not provided	GPathogenic
Select item 687335	GRCh37/hg19 17q11.2(chr17:28999903-29336050)x3	ADAP2, ATAD5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687294	GRCh37/hg19 17q11.2(chr17:29210100-29327116)x3	ADAP2, ATAD5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687074	GRCh37/hg19 17q11.2(chr17:29214423-29327116)x3	ADAP2, ATAD5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687019	GRCh37/hg19 17q11.2(chr17:29054315-30409336)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 686540	GRCh37/hg19 17q11.2(chr17:29068802-29336967)x3	ADAP2, ATAD5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 685655	GRCh37/hg19 17q11.2(chr17:28999903-30409337)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 666441	GRCh37/hg19 17q11.2(chr17:28941066-30326958)x1	ADAP2, ATAD5 +12 more	Copy number loss	Chromosome 17q11.2 deletion syndrome, 1.4Mb	GPathogenic
Select item 625731	GRCh37/hg19 17q11.2(chr17:29111368-30183819)	ADAP2, ATAD5 +10 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 564426	GRCh37/hg19 17q11.2(chr17:29003358-30412788)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 564425	GRCh37/hg19 17q11.2(chr17:28997893-30391813)x1	ADAP2, ATAD5 +13 more	Copy number loss	not provided	GPathogenic
Select item 523264	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	COPRS, CRLF3 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523263	GRCh37/hg19 17q11.2(chr17:29033882-30326958)	ADAP2, ATAD5 +12 more	Copy number loss	Cafe au lait spots, multiple	GPathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 443291	GRCh37/hg19 17q11.2(chr17:29103348-30298773)x1	ADAP2, ATAD5 +12 more	Copy number loss	See cases	GPathogenic
Select item 442660	GRCh37/hg19 17q11.2(chr17:28993036-30386515)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441568	GRCh37/hg19 17q11.2(chr17:28997791-30386515)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 394485	GRCh37/hg19 17q11.2(chr17:28959760-30367155)x1	ADAP2, ATAD5 +13 more	Copy number loss	See cases	GPathogenic
Select item 374370	Single allele	ADAP2, ATAD5 +10 more	Duplication	Intellectual disability +2 more	GLikely pathogenic

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Items: 87