ASCC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 1262551	NM_001198800.3(ASCC1):c.*108T>C	ASCC1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1960979	NM_001198800.3(ASCC1):c.1052G>C (p.Cys351Ser)	ASCC1 (C311S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1968724	NM_001198800.3(ASCC1):c.1045G>A (p.Ala349Thr)	ASCC1 (A349T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 720317	NM_001198800.3(ASCC1):c.1044C>T (p.Tyr348=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2894283	NM_001198800.3(ASCC1):c.1023C>T (p.Thr341=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3130213	NM_001198800.3(ASCC1):c.1021A>G (p.Thr341Ala)	ASCC1 (T301A +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2825574	NM_001198800.3(ASCC1):c.1017G>A (p.Arg339=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1374733	NM_001198800.3(ASCC1):c.1010C>G (p.Ser337Cys)	ASCC1 (S297C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2305182	NM_001198800.3(ASCC1):c.1004A>G (p.His335Arg)	ASCC1 (H295R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1434032	NM_001198800.3(ASCC1):c.1000A>G (p.Ile334Val)	ASCC1 (I294V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1377785	NM_001198800.3(ASCC1):c.980G>T (p.Gly327Val)	ASCC1 (G288V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2353212	NM_001198800.3(ASCC1):c.974A>G (p.Tyr325Cys)	ASCC1 (Y286C +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2139736	NM_001198800.3(ASCC1):c.960G>T (p.Leu320Phe)	ASCC1 (V252F +10 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1618086	NM_001198800.3(ASCC1):c.958-8C>T	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289137	NM_001198800.3(ASCC1):c.958-4824G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3054574	NM_001198800.3(ASCC1):c.958-4915C>T	ASCC1	Single nucleotide variant (3 prime UTR variant +2 more)	ASCC1-related disorder	GLikely benign
Select item 2917740	NM_001198800.3(ASCC1):c.958-4942C>G	ASCC1 (Q326E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2174808	NM_001198800.3(ASCC1):c.958-4966A>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896211	NM_001198800.3(ASCC1):c.958-4974A>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1358578	NM_001198800.3(ASCC1):c.958-4978C>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2428257	NM_001198800.3(ASCC1):c.958-5393G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 797445	NM_001198800.3(ASCC1):c.958-5394C>T	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097225	NM_001198800.3(ASCC1):c.958-5416A>T	ASCC1 (Q313H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 748367	NM_001198800.3(ASCC1):c.958-5418C>T	ASCC1 (Q375* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 1529154	NM_001198800.3(ASCC1):c.958-5422C>T	ASCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 711061	NM_001198800.3(ASCC1):c.958-5425A>C	ASCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2124744	NM_001198800.3(ASCC1):c.958-5426C>G	ASCC1 (S372* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1902532	NM_001198800.3(ASCC1):c.958-5427T>G	ASCC1 (S311A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2957180	NM_001198800.3(ASCC1):c.958-5429C>T	ASCC1 (A371V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 741015	NM_001198800.3(ASCC1):c.958-5431T>C	ASCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2900616	NM_001198800.3(ASCC1):c.958-5452C>T	ASCC1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 753029	NM_001198800.3(ASCC1):c.958-5461C>T	ASCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1627863	NM_001198800.3(ASCC1):c.958-5473C>T	ASCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 734242	NM_001198800.3(ASCC1):c.958-5478A>G	ASCC1 (I293V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2184794	NM_001198800.3(ASCC1):c.958-5482T>C	ASCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2022498	NM_001198800.3(ASCC1):c.958-5505T>C	ASCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000312	NM_001198800.3(ASCC1):c.958-5534G>T	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974835	NM_001198800.3(ASCC1):c.958-5534G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732000	NM_001198800.3(ASCC1):c.958-5536_958-5535dup	ASCC1	Duplication (intron variant)	not provided	GLikely benign
Select item 1645400	NM_001198800.3(ASCC1):c.957+17G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803376	NM_001198800.3(ASCC1):c.957G>C (p.Lys319Asn)	ASCC1 (K319N +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 801336	NG_031890.1:g.(?_60461)_(94053_?)del	ASCC1	Deletion	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 801337	NM_001198800.3(ASCC1):c.943C>T (p.Arg315Ter)	ASCC1 (R343* +5 more)	Single nucleotide variant (nonsense +2 more)	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 712097	NM_001198800.3(ASCC1):c.942C>A (p.Gly314=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2794430	NM_001198800.3(ASCC1):c.933A>G (p.Ser311=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2418386	NM_001198800.3(ASCC1):c.918C>T (p.Phe306=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 711537	NM_001198800.3(ASCC1):c.911A>G (p.Tyr304Cys)	ASCC1 (Y304C +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2314651	NM_001198800.3(ASCC1):c.905G>T (p.Gly302Val)	ASCC1 (G324V +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2060389	NM_001198800.3(ASCC1):c.904G>A (p.Gly302Ser)	ASCC1 (G263S +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 790630	NM_001198800.3(ASCC1):c.903A>T (p.Glu301Asp)	ASCC1 (E283D +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1922304	NM_001198800.3(ASCC1):c.900G>A (p.Ala300=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2170800	NM_001198800.3(ASCC1):c.899C>T (p.Ala300Val)	ASCC1 (A260V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2081824	NM_001198800.3(ASCC1):c.897A>G (p.Thr299=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1931274	NM_001198800.3(ASCC1):c.872-1G>C	ASCC1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2024298	NM_001198800.3(ASCC1):c.872-18T>C	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2128655	NM_001198800.3(ASCC1):c.871+10C>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783403	NM_001198800.3(ASCC1):c.871+8C>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252053	NM_001198800.3(ASCC1):c.871+1G>A	ASCC1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 31129	NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser)	ASCC1 (N290S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 2819023	NM_001198800.3(ASCC1):c.840T>C (p.Val280=)	ASCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3130217	NM_001198800.3(ASCC1):c.829C>T (p.His277Tyr)	ASCC1 (H237Y +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1327920	NM_001198800.3(ASCC1):c.813G>A (p.Trp271Ter)	ASCC1 (W231* +5 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 2	GUncertain significance
Select item 2192453	NM_001198800.3(ASCC1):c.812G>A (p.Trp271Ter)	ASCC1 (W232* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1029240	NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter)	ASCC1 (Q223* +5 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 2431593	NM_001198800.3(ASCC1):c.778C>T (p.Arg260Cys)	ASCC1 (R220C +5 more)	Single nucleotide variant (missense variant +1 more)	Barrett esophagus	GUncertain significance
Select item 1586022	NM_001198800.3(ASCC1):c.747G>T (p.Arg249Ser)	ASCC1 (K209N +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 787078	NM_001198800.3(ASCC1):c.747-4C>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1496392	NM_001198800.3(ASCC1):c.747-6C>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1493896	NM_001198800.3(ASCC1):c.747-10A>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1635642	NM_001198800.3(ASCC1):c.747-19T>C	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2500145	NC_000010.11:g.72138925_72163147del	ASCC1	Deletion	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic
Select item 2716904	NM_001198800.3(ASCC1):c.746+16G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665404	NM_001198800.3(ASCC1):c.717C>G (p.Ala239=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1596551	NM_001198800.3(ASCC1):c.714C>T (p.Tyr238=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 1285416	NM_001198800.3(ASCC1):c.714C>A (p.Tyr238Ter)	ASCC1 (Y199* +3 more)	Single nucleotide variant (nonsense +2 more)	Barrett esophagus	GPathogenic
Select item 2416310	NM_001198800.3(ASCC1):c.695G>T (p.Gly232Val)	ASCC1 (G193V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2635586	NM_001198800.3(ASCC1):c.649del (p.Pro216_Leu217insTer)	ASCC1	Deletion (nonsense +2 more)	ASCC1-related disorder	GLikely pathogenic
Select item 3130216	NM_001198800.3(ASCC1):c.647C>T (p.Pro216Leu)	ASCC1 (P216L +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2898167	NM_001198800.3(ASCC1):c.630T>C (p.Asp210=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2415083	NM_001198800.3(ASCC1):c.627T>C (p.Asn209=)	ASCC1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1248651	NM_001198800.3(ASCC1):c.626+134C>T	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244079	NM_001198800.3(ASCC1):c.626+101A>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 619021	NM_001198800.3(ASCC1):c.626+1G>A	ASCC1	Single nucleotide variant (splice donor variant)	Spinal muscular atrophy with congenital bone fractures 2 +3 more	GPathogenic/Likely pathogenic
Select item 2916721	NM_001198800.3(ASCC1):c.615G>A (p.Glu205=)	ASCC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1997692	NM_001198800.3(ASCC1):c.585G>C (p.Gln195His)	ASCC1 (Q195H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1333815	NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)	ASCC1 (Q156* +3 more)	Single nucleotide variant (nonsense +1 more)	Spinal muscular atrophy with congenital bone fractures 2	GPathogenic/Likely pathogenic
Select item 1564359	NM_001198800.3(ASCC1):c.571G>C (p.Glu191Gln)	ASCC1 (E152Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1971124	NM_001198800.3(ASCC1):c.566G>C (p.Ser189Thr)	ASCC1 (S150T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2039253	NM_001198800.3(ASCC1):c.544A>G (p.Ile182Val)	ASCC1 (I143V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942128	NM_001198800.3(ASCC1):c.502G>C (p.Asp168His)	ASCC1 (D168H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2112359	NM_001198800.3(ASCC1):c.490-5A>G	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294585	NM_001198800.3(ASCC1):c.490-163T>C	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2640576	NM_001198800.3(ASCC1):c.489+14837G>C	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287832	NM_001198800.3(ASCC1):c.489+16G>A	ASCC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1900310	NM_001198800.3(ASCC1):c.489+12C>T	ASCC1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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