ASCC3[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 185

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	COQ3, ASCC3 +53 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 3234656	NM_006828.4(ASCC3):c.6590C>T (p.Thr2197Ile)	ASCC3 (T2197I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2245375	NM_006828.4(ASCC3):c.6535G>A (p.Val2179Ile)	ASCC3 (V2179I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130263	NM_006828.4(ASCC3):c.6446C>T (p.Pro2149Leu)	ASCC3 (P2149L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595611	NM_006828.4(ASCC3):c.6421G>A (p.Val2141Ile)	ASCC3 (V2141I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130262	NM_006828.4(ASCC3):c.6383T>C (p.Ile2128Thr)	ASCC3 (I2128T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130261	NM_006828.4(ASCC3):c.6301T>C (p.Cys2101Arg)	ASCC3 (C2101R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780988	NM_006828.4(ASCC3):c.6280C>T (p.His2094Tyr)	ASCC3 (H2094Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2237562	NM_006828.4(ASCC3):c.6274G>A (p.Gly2092Arg)	ASCC3 (G2092R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 382492	NM_006828.4(ASCC3):c.6090A>C (p.Leu2030Phe)	ASCC3 (L2030F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2331114	NM_006828.4(ASCC3):c.6025G>A (p.Val2009Ile)	ASCC3 (V2009I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551290	NM_006828.4(ASCC3):c.6021C>G (p.Asp2007Glu)	ASCC3 (D2007E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2691853	NM_006828.4(ASCC3):c.5996T>C (p.Leu1999Pro)	ASCC3 (L1999P)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 81 +1 more	GUncertain significance
Select item 3130260	NM_006828.4(ASCC3):c.5939C>T (p.Pro1980Leu)	ASCC3 (P1980L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130259	NM_006828.4(ASCC3):c.5900T>C (p.Ile1967Thr)	ASCC3 (I1967T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325852	NM_006828.4(ASCC3):c.5888C>T (p.Thr1963Ile)	ASCC3 (T1963I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407669	NM_006828.4(ASCC3):c.5857G>A (p.Gly1953Ser)	ASCC3 (G1953S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130257	NM_006828.4(ASCC3):c.5834A>G (p.Asn1945Ser)	ASCC3 (N1945S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3233652	NM_006828.4(ASCC3):c.5769_5770del (p.Cys1924fs)	ASCC3 (C1924fs)	Deletion (frameshift variant)	Intellectual developmental disorder, autosomal recessive 81	GPathogenic
Select item 931383	NM_006828.4(ASCC3):c.5693A>G (p.His1898Arg)	ASCC3 (H1898R)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2221642	NM_006828.4(ASCC3):c.5612T>G (p.Leu1871Arg)	ASCC3 (L1871R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663737	NM_006828.4(ASCC3):c.5563dup (p.Tyr1855fs)	ASCC3 (Y1855fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2541245	NM_006828.4(ASCC3):c.5546T>C (p.Leu1849Pro)	ASCC3 (L1849P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366679	NM_006828.4(ASCC3):c.5512C>T (p.Pro1838Ser)	ASCC3 (P1838S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288359	NM_006828.4(ASCC3):c.5456C>T (p.Ala1819Val)	ASCC3 (A1819V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396142	NM_006828.4(ASCC3):c.5450G>A (p.Arg1817Gln)	ASCC3 (R1817Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130256	NM_006828.4(ASCC3):c.5423G>T (p.Arg1808Leu)	ASCC3 (R1808L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459960	NM_006828.4(ASCC3):c.5423G>A (p.Arg1808His)	ASCC3 (R1808H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302422	NM_006828.4(ASCC3):c.5343C>G (p.Asn1781Lys)	ASCC3 (N1781K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322016	NM_006828.4(ASCC3):c.5327G>A (p.Ser1776Asn)	ASCC3 (S1776N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377567	NM_006828.4(ASCC3):c.5320G>A (p.Asp1774Asn)	ASCC3 (D1774N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691808	NM_006828.4(ASCC3):c.5281C>T (p.Arg1761Ter)	ASCC3 (R1761*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 81	GPathogenic
Select item 2582625	NM_006828.4(ASCC3):c.5065C>T (p.Arg1689Cys)	ASCC3 (R1689C)	Single nucleotide variant (missense variant)	ASCC3-related disorder	GUncertain significance
Select item 2662446	NM_006828.4(ASCC3):c.5029G>A (p.Asp1677Asn)	ASCC3 (D1677N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691810	NM_006828.4(ASCC3):c.4984A>T (p.Ile1662Phe)	ASCC3 (I1662F)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 81	GPathogenic
Select item 2691809	NM_006828.4(ASCC3):c.4955G>A (p.Gly1652Asp)	ASCC3 (G1652D)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 81	GPathogenic
Select item 2656784	NM_006828.4(ASCC3):c.4833C>T (p.Thr1611=)	ASCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2336083	NM_006828.4(ASCC3):c.4771A>G (p.Met1591Val)	ASCC3 (M1591V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237755	NM_006828.4(ASCC3):c.4732T>C (p.Phe1578Leu)	ASCC3 (F1578L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210895	NM_006828.4(ASCC3):c.4706G>A (p.Arg1569His)	ASCC3 (R1569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691800	NM_006828.4(ASCC3):c.4690T>C (p.Ser1564Pro)	ASCC3 (S1564P)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 81	GPathogenic
Select item 2664822	NM_006828.4(ASCC3):c.4682T>C (p.Phe1561Ser)	ASCC3 (F1561S)	Single nucleotide variant (missense variant)	Congenital myopathy	GUncertain significance
Select item 2691801	NM_006828.4(ASCC3):c.4553G>A (p.Arg1518His)	ASCC3 (R1518H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 81	GPathogenic
Select item 2509164	NM_006828.4(ASCC3):c.4541G>A (p.Arg1514Gln)	ASCC3 (R1514Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130255	NM_006828.4(ASCC3):c.4525G>T (p.Gly1509Cys)	ASCC3 (G1509C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401827	NM_006828.4(ASCC3):c.4511A>G (p.Asn1504Ser)	ASCC3 (N1504S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314489	NM_006828.4(ASCC3):c.4462G>A (p.Gly1488Arg)	ASCC3 (G1488R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691804	NM_006828.4(ASCC3):c.4415G>A (p.Arg1472Gln)	ASCC3 (R1472Q)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 81	GPathogenic
Select item 2580575	NM_006828.4(ASCC3):c.4280C>T (p.Thr1427Met)	ASCC3 (T1427M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2344133	NM_006828.4(ASCC3):c.4273G>A (p.Val1425Ile)	ASCC3 (V1425I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290970	NM_006828.4(ASCC3):c.4204A>C (p.Lys1402Gln)	ASCC3 (K1402Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 722060	NM_006828.4(ASCC3):c.4173T>C (p.Asp1391=)	ASCC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2560023	NM_006828.4(ASCC3):c.4126G>A (p.Val1376Ile)	ASCC3 (V1376I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480277	NM_006828.4(ASCC3):c.4112C>T (p.Pro1371Leu)	ASCC3 (P1371L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735094	NM_006828.4(ASCC3):c.4071T>C (p.Val1357=)	ASCC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1800734	NM_006828.4(ASCC3):c.4055_4056del (p.Gly1352fs)	ASCC3 (G1352fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2545073	NM_006828.4(ASCC3):c.3962T>C (p.Leu1321Pro)	ASCC3 (L1321P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277672	NM_006828.4(ASCC3):c.3935C>T (p.Ala1312Val)	ASCC3 (A1312V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792046	NM_006828.4(ASCC3):c.3813A>T (p.Ala1271=)	ASCC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3130253	NM_006828.4(ASCC3):c.3754C>G (p.Leu1252Val)	ASCC3 (L1252V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130252	NM_006828.4(ASCC3):c.3678T>G (p.Asp1226Glu)	ASCC3 (D1226E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691806	NM_006828.4(ASCC3):c.3631C>T (p.Gln1211Ter)	ASCC3 (Q1211*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 81	GPathogenic
Select item 792047	NM_006828.4(ASCC3):c.3608A>G (p.Tyr1203Cys)	ASCC3 (Y1203C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3130251	NM_006828.4(ASCC3):c.3557C>T (p.Ala1186Val)	ASCC3 (A1186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2691811	NM_006828.4(ASCC3):c.3522dup (p.Cys1175fs)	ASCC3 (C1175fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal recessive 81	GPathogenic
Select item 3130250	NM_006828.4(ASCC3):c.3502A>T (p.Ile1168Phe)	ASCC3 (I1168F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542835	NM_006828.4(ASCC3):c.3475A>G (p.Ile1159Val)	ASCC3 (I1159V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 422281	NM_006828.4(ASCC3):c.3434del (p.Lys1145fs)	ASCC3 (K1145fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3130249	NM_006828.4(ASCC3):c.3430A>G (p.Lys1144Glu)	ASCC3 (K1144E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130248	NM_006828.4(ASCC3):c.3403C>T (p.Pro1135Ser)	ASCC3 (P1135S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278299	NM_006828.4(ASCC3):c.3326T>C (p.Leu1109Pro)	ASCC3 (L1109P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776143	NM_006828.4(ASCC3):c.3148G>A (p.Val1050Ile)	ASCC3 (V1050I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2210658	NM_006828.4(ASCC3):c.3116G>A (p.Ser1039Asn)	ASCC3 (S1039N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2582588	NM_006828.4(ASCC3):c.3101T>A (p.Leu1034Ter)	ASCC3 (L1034*)	Single nucleotide variant (nonsense)	ASCC3-related disorder	GLikely pathogenic
Select item 2443680	NM_006828.4(ASCC3):c.3023A>T (p.Glu1008Val)	ASCC3 (E1008V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2477959	NM_006828.4(ASCC3):c.2897T>A (p.Met966Lys)	ASCC3 (M966K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130247	NM_006828.4(ASCC3):c.2885A>G (p.Asp962Gly)	ASCC3 (D962G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324064	NM_006828.4(ASCC3):c.2873G>C (p.Gly958Ala)	ASCC3 (G958A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 746834	NM_006828.4(ASCC3):c.2835A>G (p.Thr945=)	ASCC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1268046	NM_006828.4(ASCC3):c.2824-18A>G	ASCC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2246792	NM_006828.4(ASCC3):c.2770G>C (p.Val924Leu)	ASCC3 (V924L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1251948	NM_006828.4(ASCC3):c.2763del (p.Leu922fs)	ASCC3 (L922fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2356789	NM_006828.4(ASCC3):c.2692C>G (p.Leu898Val)	ASCC3 (L898V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552148	NM_006828.4(ASCC3):c.2656A>G (p.Ile886Val)	ASCC3 (I886V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339385	NM_006828.4(ASCC3):c.2609A>G (p.His870Arg)	ASCC3 (H870R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597296	NM_006828.4(ASCC3):c.2597T>G (p.Ile866Ser)	ASCC3 (I866S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2664823	NM_006828.4(ASCC3):c.2554C>T (p.Arg852Ter)	ASCC3 (R852*)	Single nucleotide variant (nonsense)	Congenital myopathy	GLikely pathogenic
Select item 2383804	NM_006828.4(ASCC3):c.2515G>C (p.Val839Leu)	ASCC3 (V839L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3130246	NM_006828.4(ASCC3):c.2329G>T (p.Asp777Tyr)	ASCC3 (D777Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209809	NM_006828.4(ASCC3):c.2315G>A (p.Arg772Gln)	ASCC3 (R772Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469341	NM_006828.4(ASCC3):c.2297C>T (p.Ser766Leu)	ASCC3 (S766L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469340	NM_006828.4(ASCC3):c.2296T>C (p.Ser766Pro)	ASCC3 (S766P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599377	NM_006828.4(ASCC3):c.2228G>A (p.Gly743Asp)	ASCC3 (G743D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547724	NM_006828.4(ASCC3):c.2137A>G (p.Lys713Glu)	ASCC3 (K713E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780989	NM_006828.4(ASCC3):c.2129A>G (p.Lys710Arg)	ASCC3 (K710R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 780990	NM_006828.4(ASCC3):c.2125T>C (p.Leu709=)	ASCC3	Single nucleotide variant (synonymous variant)	not provided	GBenign

<< First< Prev

Page of 2