ADAD1[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 2361927	NM_139243.4(ADAD1):c.26A>G (p.Gln9Arg)	ADAD1 (Q9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225781	NM_139243.4(ADAD1):c.89C>A (p.Thr30Lys)	ADAD1 (T12K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519130	NM_139243.4(ADAD1):c.119C>T (p.Ser40Phe)	ADAD1 (S22F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265124	NM_139243.4(ADAD1):c.187C>T (p.Pro63Ser)	ADAD1 (P63S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265128	NM_139243.4(ADAD1):c.242A>G (p.Lys81Arg)	ADAD1 (K63R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569831	NM_139243.4(ADAD1):c.275G>A (p.Arg92His)	ADAD1 (R92H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519704	NM_139243.4(ADAD1):c.355A>G (p.Thr119Ala)	ADAD1 (T101A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143480	NM_139243.4(ADAD1):c.533C>G (p.Pro178Arg)	ADAD1 (P178R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332596	NM_139243.4(ADAD1):c.599A>G (p.Glu200Gly)	ADAD1 (E200G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143488	NM_139243.4(ADAD1):c.625A>G (p.Ile209Val)	ADAD1 (I209V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590308	NM_139243.4(ADAD1):c.637G>A (p.Val213Ile)	ADAD1 (V195I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265122	NM_139243.4(ADAD1):c.847A>C (p.Arg283=)	ADAD1 (S283R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3143493	NM_139243.4(ADAD1):c.896T>C (p.Met299Thr)	ADAD1 (M281T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521119	NM_139243.4(ADAD1):c.932C>G (p.Ser311Cys)	ADAD1 (S293C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482729	NM_139243.4(ADAD1):c.1054G>A (p.Ala352Thr)	ADAD1 (A352T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547716	NM_139243.4(ADAD1):c.1078G>A (p.Val360Met)	ADAD1 (V342M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465333	NM_139243.4(ADAD1):c.1208G>A (p.Ser403Asn)	ADAD1 (S392N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615818	NM_139243.4(ADAD1):c.1363A>G (p.Ser455Gly)	ADAD1 (S437G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143461	NM_139243.4(ADAD1):c.1522C>T (p.Arg508Trp)	ADAD1 (R508W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143464	NM_139243.4(ADAD1):c.1550G>A (p.Arg517Gln)	ADAD1 (R499Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3143466	NM_139243.4(ADAD1):c.1664A>G (p.Tyr555Cys)	ADAD1 (Y537C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405535	NM_139243.4(ADAD1):c.1727T>A (p.Met576Lys)	ADAD1 (M558K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246755	NC_000004.11:g.(?_121616266)_(124323706_?)del	ADAD1, AFG2A +17 more	Deletion	not provided	GUncertain significance
Select item 3062807	GRCh37/hg19 4q27-28.1(chr4:123302296-124083892)x3	ADAD1, AFG2A +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2427328	NC_000004.11:g.(?_121616266)_(124323706_?)dup	ADAD1, AFG2A +17 more	Duplication	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	ADAD1, ANXA5 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 635942	Single allele	SMIM43, SNHG8 +31 more	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 46