113179[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 151486	GRCh38/hg38 19p13.3(chr19:1911810-1952591)x3	ADAT3, CSNK1G2 +8 more	Copy number gain	See cases	GBenign
Select item 498817	NM_138422.4(ADAT3):c.16C>T (p.Arg6Cys)	ADAT3, SCAMP4 (R6C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1331555	NM_138422.4(ADAT3):c.24_37del (p.Pro10fs)	ADAT3, SCAMP4 (P10fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 771509	NM_138422.4(ADAT3):c.36G>A (p.Ser12=)	ADAT3, SCAMP4	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1029127	NM_138422.4(ADAT3):c.54G>C (p.Glu18Asp)	ADAT3, SCAMP4 (E2D +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 2519848	NM_138422.4(ADAT3):c.56C>T (p.Pro19Leu)	ADAT3, SCAMP4 (P19L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268963	NM_138422.4(ADAT3):c.58G>A (p.Ala20Thr)	ADAT3, SCAMP4 (A20T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 434081	NM_138422.4(ADAT3):c.59C>T (p.Ala20Val)	ADAT3, SCAMP4 (A20V +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome +1 more	GUncertain significance
Select item 434082	NM_138422.4(ADAT3):c.62C>G (p.Pro21Arg)	ADAT3, SCAMP4 (P21R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336464	NM_138422.4(ADAT3):c.67C>T (p.Leu23Phe)	ADAT3, SCAMP4 (L23F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270733	NM_138422.4(ADAT3):c.78G>T (p.Gln26His)	ADAT3, SCAMP4 (Q26H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615617	NM_138422.4(ADAT3):c.87C>G (p.Cys29Trp)	ADAT3, SCAMP4 (C29W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 549839	NM_138422.4(ADAT3):c.99_106dup (p.Glu36fs)	ADAT3, SCAMP4 (E36fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability-strabismus syndrome	GPathogenic
Select item 2502139	NM_138422.4(ADAT3):c.108G>C (p.Glu36Asp)	ADAT3, SCAMP4 (E20D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 726301	NM_138422.4(ADAT3):c.111T>G (p.Pro37=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2233181	NM_138422.4(ADAT3):c.116C>T (p.Pro39Leu)	ADAT3, SCAMP4 (P23L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 718244	NM_138422.4(ADAT3):c.117G>A (p.Pro39=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3080681	NM_138422.4(ADAT3):c.118G>T (p.Ala40Ser)	ADAT3, SCAMP4 (A40S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3025735	NM_138422.4(ADAT3):c.147C>T (p.Ser49=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2277878	NM_138422.4(ADAT3):c.151A>C (p.Lys51Gln)	ADAT3, SCAMP4 (K51Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3362604	NM_138422.4(ADAT3):c.159_160del (p.Asp55fs)	ADAT3, SCAMP4 (D39fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability-strabismus syndrome	GLikely pathogenic
Select item 2596524	NM_138422.4(ADAT3):c.161G>A (p.Gly54Glu)	ADAT3, SCAMP4 (G38E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346490	NM_138422.4(ADAT3):c.181G>T (p.Ala61Ser)	ADAT3, SCAMP4 (A45S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3268973	NM_138422.4(ADAT3):c.205A>C (p.Lys69Gln)	ADAT3, SCAMP4 (K69Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322263	NM_138422.4(ADAT3):c.215C>T (p.Thr72Ile)	ADAT3, SCAMP4 (T56I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788009	NM_138422.4(ADAT3):c.216C>G (p.Thr72=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3342308	NM_138422.4(ADAT3):c.238T>C (p.Ser80Pro)	ADAT3, SCAMP4 (S64P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2336014	NM_138422.4(ADAT3):c.251C>G (p.Pro84Arg)	ADAT3, SCAMP4 (P68R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 732251	NM_138422.4(ADAT3):c.258C>T (p.Pro86=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 501475	NM_138422.4(ADAT3):c.274A>C (p.Lys92Gln)	ADAT3, SCAMP4 (K92Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3080616	NM_138422.4(ADAT3):c.278G>A (p.Arg93Gln)	ADAT3, SCAMP4 (R93Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1709097	NM_138422.4(ADAT3):c.292C>G (p.Arg98Gly)	ADAT3, SCAMP4 (R82G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 3268892	NM_138422.4(ADAT3):c.296A>T (p.Asp99Val)	ADAT3, SCAMP4 (D83V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624247	NM_138422.4(ADAT3):c.304A>G (p.Ser102Gly)	ADAT3, SCAMP4 (S102G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2539077	NM_138422.4(ADAT3):c.314C>G (p.Ala105Gly)	ADAT3, SCAMP4 (A89G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3362399	NM_138422.4(ADAT3):c.319G>A (p.Glu107Lys)	ADAT3, SCAMP4 (E107K +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GLikely pathogenic
Select item 1032418	NM_138422.4(ADAT3):c.338C>G (p.Ala113Gly)	ADAT3, SCAMP4 (A97G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 2221127	NM_138422.4(ADAT3):c.355C>A (p.Pro119Thr)	ADAT3, SCAMP4 (P103T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 813695	NM_138422.4(ADAT3):c.356C>T (p.Pro119Leu)	ADAT3, SCAMP4 (P103L +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 1336111	NM_138422.4(ADAT3):c.362C>T (p.Ser121Leu)	ADAT3, SCAMP4 (S105L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781375	NM_138422.4(ADAT3):c.363G>A (p.Ser121=)	SCAMP4, ADAT3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 450197	NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu)	SCAMP4, ADAT3 (R128L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2618229	NM_138422.4(ADAT3):c.424G>A (p.Val142Met)	ADAT3, SCAMP4 (V126M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1707447	NM_138422.4(ADAT3):c.427C>G (p.Pro143Ala)	ADAT3, SCAMP4 (P127A +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 183301	NM_138422.4(ADAT3):c.430G>A (p.Val144Met)	ADAT3, SCAMP4 (V144M +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1338367	NM_138422.4(ADAT3):c.436_446del (p.Ala146fs)	SCAMP4, ADAT3 (A130fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3080640	NM_138422.4(ADAT3):c.436G>A (p.Ala146Thr)	ADAT3, SCAMP4 (A130T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268902	NM_138422.4(ADAT3):c.437C>T (p.Ala146Val)	ADAT3, SCAMP4 (A146V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 434083	NM_138422.4(ADAT3):c.440G>A (p.Arg147Gln)	ADAT3, SCAMP4 (R147Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 748847	NM_138422.4(ADAT3):c.441G>A (p.Arg147=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1337582	NM_138422.4(ADAT3):c.444G>A (p.Pro148=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3372219	NM_138422.4(ADAT3):c.455G>A (p.Arg152Lys)	ADAT3, SCAMP4 (R136K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334060	NM_138422.4(ADAT3):c.482_487dup (p.Trp162_Pro163insHisTrp)	ADAT3, SCAMP4	Duplication (inframe_insertion +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 774951	NM_138422.4(ADAT3):c.522C>T (p.Ser174=)	ADAT3, SCAMP4	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2268397	NM_138422.4(ADAT3):c.529G>A (p.Ala177Thr)	ADAT3, SCAMP4 (A161T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3371653	NM_138422.4(ADAT3):c.545C>G (p.Ser182Cys)	ADAT3, SCAMP4 (S166C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1801364	NM_138422.4(ADAT3):c.545C>T (p.Ser182Phe)	ADAT3, SCAMP4 (S166F +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 425155	NM_138422.4(ADAT3):c.548C>T (p.Thr183Met)	ADAT3, SCAMP4 (T183M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3080645	NM_138422.4(ADAT3):c.551A>C (p.Gln184Pro)	ADAT3, SCAMP4 (Q168P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1801365	NM_138422.4(ADAT3):c.551A>G (p.Gln184Arg)	ADAT3, SCAMP4 (Q168R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 3080646	NM_138422.4(ADAT3):c.579G>A (p.Met193Ile)	ADAT3, SCAMP4 (M177I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 523977	NM_138422.4(ADAT3):c.586del (p.Ala196fs)	ADAT3, SCAMP4 (A196fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504106	NM_138422.4(ADAT3):c.586_587delinsTT (p.Ala196Leu)	ADAT3, SCAMP4 (A180L +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2354323	NM_138422.4(ADAT3):c.596C>T (p.Ala199Val)	ADAT3, SCAMP4 (A183V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597339	NM_138422.4(ADAT3):c.601C>T (p.Arg201Trp)	ADAT3, SCAMP4 (R201W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 376801	NM_138422.4(ADAT3):c.604C>T (p.Arg202Trp)	ADAT3, SCAMP4 (R202W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3024702	NM_138422.4(ADAT3):c.626GGGCCGTGG[1] (p.Gly212_Val214del)	ADAT3, SCAMP4	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1337385	NM_138422.4(ADAT3):c.626G>A (p.Arg209Gln)	ADAT3, SCAMP4 (R193Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3064104	NM_138422.4(ADAT3):c.640G>A (p.Val214Met)	SCAMP4, ADAT3 (V198M +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 450198	NM_138422.4(ADAT3):c.667G>A (p.Val223Met)	ADAT3, SCAMP4 (V223M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2230222	NM_138422.4(ADAT3):c.676A>C (p.Thr226Pro)	ADAT3, SCAMP4 (T210P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209258	NM_138422.4(ADAT3):c.701A>C (p.Asp234Ala)	ADAT3, SCAMP4 (D234A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2402604	NM_138422.4(ADAT3):c.706C>T (p.Pro236Ser)	ADAT3, SCAMP4 (P220S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 434084	NM_138422.4(ADAT3):c.716A>C (p.His239Pro)	ADAT3, SCAMP4 (H239P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080664	NM_138422.4(ADAT3):c.718G>A (p.Ala240Thr)	ADAT3, SCAMP4 (A224T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 708844	NM_138422.4(ADAT3):c.724A>G (p.Met242Val)	ADAT3, SCAMP4 (M242V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2600920	NM_138422.4(ADAT3):c.726G>A (p.Met242Ile)	ADAT3, SCAMP4 (M226I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080672	NM_138422.4(ADAT3):c.739C>G (p.Leu247Val)	ADAT3, SCAMP4 (L247V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1699079	NM_138422.4(ADAT3):c.748C>T (p.Arg250Cys)	ADAT3, SCAMP4 (R234C +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability-strabismus syndrome	GUncertain significance
Select item 975317	NM_138422.4(ADAT3):c.751G>A (p.Gly251Ser)	ADAT3, SCAMP4 (G235S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 423176	NM_138422.4(ADAT3):c.761G>A (p.Arg254His)	ADAT3, SCAMP4 (R254H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502005	NM_138422.4(ADAT3):c.777C>A (p.Phe259Leu)	ADAT3, SCAMP4 (F243L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3080684	NM_138422.4(ADAT3):c.802G>A (p.Ala268Thr)	ADAT3, SCAMP4 (A252T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388411	NM_138422.4(ADAT3):c.803C>G (p.Ala268Gly)	ADAT3, SCAMP4 (A268G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 992199	NM_138422.4(ADAT3):c.806C>T (p.Pro269Leu)	ADAT3, SCAMP4 (P253L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 983080	NM_138422.4(ADAT3):c.820dup (p.Gln274fs)	ADAT3, SCAMP4 (Q258fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability-strabismus syndrome +1 more	GUncertain significance
Select item 3268921	NM_138422.4(ADAT3):c.820C>A (p.Gln274Lys)	ADAT3, SCAMP4 (Q274K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080688	NM_138422.4(ADAT3):c.820C>G (p.Gln274Glu)	ADAT3, SCAMP4 (Q258E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268952	NM_138422.4(ADAT3):c.826G>A (p.Val276Ile)	ADAT3, SCAMP4 (V260I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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