8053[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +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 3039263	NM_007083.5(NUDT6):c.770C>T (p.Thr257Ile)	FGF2, NUDT6 (T257I +1 more)	Single nucleotide variant (missense variant +1 more)	NUDT6-related disorder	GBenign
Select item 3050768	NM_007083.5(NUDT6):c.764C>T (p.Ala255Val)	FGF2, NUDT6 (A255V +1 more)	Single nucleotide variant (missense variant +1 more)	NUDT6-related disorder	GLikely benign
Select item 3202823	NM_007083.5(NUDT6):c.702C>A (p.Phe234Leu)	FGF2, NUDT6 (F65L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477534	NM_007083.5(NUDT6):c.613G>T (p.Val205Phe)	FGF2, NUDT6 (V36F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035036	NM_007083.5(NUDT6):c.612C>T (p.Ser204=)	FGF2, NUDT6	Single nucleotide variant (synonymous variant +1 more)	NUDT6-related disorder	GLikely benign
Select item 2319473	NM_007083.5(NUDT6):c.569G>A (p.Arg190Gln)	FGF2, NUDT6 (R190Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056995	NM_007083.5(NUDT6):c.554-5C>A	FGF2, NUDT6	Single nucleotide variant (3 prime UTR variant +1 more)	NUDT6-related disorder	GBenign
Select item 2204485	NM_007083.5(NUDT6):c.491G>A (p.Arg164Gln)	NUDT6 (R164Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608124	NM_007083.5(NUDT6):c.323C>G (p.Ala108Gly)	NUDT6 (A108G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515943	NM_007083.5(NUDT6):c.320C>G (p.Pro107Arg)	NUDT6 (P107R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316331	NM_007083.5(NUDT6):c.253T>A (p.Trp85Arg)	NUDT6 (W85R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341393	NM_007083.5(NUDT6):c.161G>A (p.Gly54Glu)	NUDT6 (G54E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463680	NM_007083.5(NUDT6):c.143G>A (p.Gly48Asp)	NUDT6 (G48D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283075	NM_007083.5(NUDT6):c.73G>C (p.Gly25Arg)	NUDT6 (G25R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202824	NM_007083.5(NUDT6):c.71C>A (p.Ala24Glu)	NUDT6 (A24E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037688	NM_007083.5(NUDT6):c.55G>C (p.Gly19Arg)	NUDT6 (G19R)	Single nucleotide variant (missense variant +1 more)	NUDT6-related disorder	GBenign
Select item 2215518	NM_007083.5(NUDT6):c.43G>A (p.Ala15Thr)	NUDT6 (A15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458177	NM_007083.5(NUDT6):c.22G>A (p.Gly8Ser)	NUDT6 (G8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1223283	NM_198041.3(NUDT6):c.-270+28C>T	NUDT6	Single nucleotide variant (intron variant)	not provided	GBenign
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 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
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	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
Select item 2685990	GRCh37/hg19 4q27-28.1(chr4:123654096-123996443)x3	AFG2A, BBS12 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 2427332	NC_000004.11:g.(?_123818759)_(124235219_?)del	AFG2A, FGF2 +1 more	Deletion	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 2427328	NC_000004.11:g.(?_121616266)_(124323706_?)dup	ADAD1, NDNF +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 1340837	GRCh37/hg19 4q27-28.1(chr4:123730878-123891478)x1	FGF2, NUDT6 +1 more	Copy number loss	not provided	GUncertain significance
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	MYOZ2, PRDM5 +48 more	Copy number loss	not provided	GPathogenic
Select item 1075381	NC_000004.11:g.(?_123663028)_(124235239_?)del	AFG2A, BBS12 +2 more	Deletion	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 980136	GRCh37/hg19 4q27-28.1(chr4:123666456-123851648)x1	SPATA5, FGF2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 635942	Single allele	ADAD1, ANKRD50 +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	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 48