ClinVar for Gene (Select 79736) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325248	NM_024683.4(TEFM):c.445C>T (p.Arg149Trp)	TEFM (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325247	NM_024683.4(TEFM):c.74A>G (p.Tyr25Cys)	TEFM (Y25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325246	NM_024683.4(TEFM):c.413C>G (p.Thr138Ser)	TEFM (T138S)	Single nucleotide variant (missense variant)	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 3175717	NM_024683.4(TEFM):c.686A>G (p.Tyr229Cys)	TEFM (Y229C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175716	NM_024683.4(TEFM):c.548C>T (p.Ala183Val)	TEFM (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175715	NM_024683.4(TEFM):c.35G>A (p.Arg12Lys)	TEFM (R12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2620517	NM_024683.4(TEFM):c.340A>G (p.Ser114Gly)	TEFM (S114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606095	NM_024683.4(TEFM):c.768G>A (p.Met256Ile)	TEFM (M256I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591557	NM_024683.4(TEFM):c.816G>T (p.Gln272His)	TEFM (Q272H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545690	NM_024683.4(TEFM):c.515C>A (p.Ser172Tyr)	TEFM (S172Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530102	NM_024683.4(TEFM):c.374G>A (p.Ser125Asn)	TEFM (S125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513774	NM_024683.4(TEFM):c.83T>C (p.Leu28Ser)	TEFM (L28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479785	NM_024683.4(TEFM):c.306C>G (p.His102Gln)	TEFM (H102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454294	NM_024683.4(TEFM):c.618A>G (p.Ile206Met)	TEFM (I206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2399116	NM_024683.4(TEFM):c.6C>G (p.Ser2Arg)	TEFM (S2R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345264	NM_024683.4(TEFM):c.563A>G (p.Lys188Arg)	TEFM (K188R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317072	NM_024683.4(TEFM):c.46T>G (p.Phe16Val)	TEFM (F16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299914	NM_024683.4(TEFM):c.966A>G (p.Ile322Met)	TEFM (I322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262378	NM_024683.4(TEFM):c.949T>C (p.Phe317Leu)	TEFM (F317L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251462	NM_024683.4(TEFM):c.709T>C (p.Ser237Pro)	TEFM (S237P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221383	NM_024683.4(TEFM):c.1004A>G (p.Gln335Arg)	TEFM (Q335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1678524	NC_000017.11:g.30660608_31159168inv	ADAP2, ATAD5 +27 more	Inversion	Neurofibromatosis, type 1	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
Select item 160878	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1	ADAP2, ATAD5 +65 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 155211	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1	ADAP2, ATAD5 +70 more	Copy number loss	See cases	GPathogenic
Select item 155193	GRCh38/hg38 17q11.2(chr17:30614048-30999204)x1	ADAP2, ATAD5 +22 more	Copy number loss	See cases	GLikely pathogenic
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 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 153915	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3	ADAP2, ATAD5 +70 more	Copy number gain	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 153222	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1	ADAP2, ATAD5 +72 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 148464	GRCh38/hg38 17q11.2(chr17:30706864-31016678)x1	ADAP2, ATAD5 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 145059	GRCh38/hg38 17q11.2(chr17:30642544-31005259)x3	ADAP2, ATAD5 +21 more	Copy number gain	See cases	GUncertain significance
Select item 144773	GRCh38/hg38 17q11.2(chr17:30614048-30969331)x1	ADAP2, ATAD5 +19 more	Copy number loss	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 60461	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1	ADAP2, ATAD5 +65 more	Copy number loss	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 60138	GRCh38/hg38 17q11.2(chr17:30893477-30993653)x3	ADAP2, ATAD5 +13 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 58139	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3	ADAP2, ATAD5 +69 more	Copy number gain	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 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

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Links from Gene

Items: 82