13709[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	GUncertain significance
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 57169	GRCh38/hg38 1q41-42.12(chr1:223882252-224902629)x1	CNIH3, CNIH3-AS1 +43 more	Copy number loss	See cases	GUncertain significance
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 1275919	NC_000001.11:g.224183111C>T	DEGS1	Single nucleotide variant	not provided	GBenign
Select item 2584783	NM_003676.4(DEGS1):c.2T>C (p.Met1Thr)	DEGS1 (M1T)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 1349371	NM_003676.4(DEGS1):c.3G>A (p.Met1Ile)	DEGS1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2719969	NM_003676.4(DEGS1):c.22G>T (p.Glu8Ter)	DEGS1 (E8*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1164141	NM_003676.4(DEGS1):c.27C>A (p.Asp9Glu)	DEGS1 (D9E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1954874	NM_003676.4(DEGS1):c.49C>T (p.Gln17Ter)	DEGS1 (Q17*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1549742	NM_003676.4(DEGS1):c.60C>T (p.Ala20=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117024	NM_003676.4(DEGS1):c.61G>C (p.Asp21His)	DEGS1 (D21H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582871	NM_003676.4(DEGS1):c.64C>G (p.Arg22Gly)	DEGS1 (R22G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514221	NM_003676.4(DEGS1):c.82+1G>C	DEGS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1481460	NM_003676.4(DEGS1):c.82+6G>A	DEGS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1522408	NM_003676.4(DEGS1):c.99A>G (p.Ile33Met)	DEGS1 (I33M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3271472	NM_003676.4(DEGS1):c.101A>G (p.Lys34Arg)	DEGS1 (K34R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 805856	NM_003676.4(DEGS1):c.110T>C (p.Met37Thr)	DEGS1 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy, hypomyelinating, 18	GUncertain significance
Select item 3271475	NM_003676.4(DEGS1):c.119A>T (p.Asp40Val)	DEGS1 (D40V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244139	NM_003676.4(DEGS1):c.135G>C (p.Trp45Cys)	DEGS1 (W45C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081350	NM_003676.4(DEGS1):c.158C>T (p.Thr53Ile)	DEGS1 (T17I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2176228	NM_003676.4(DEGS1):c.169G>A (p.Ala57Thr)	DEGS1 (A21T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346765	NM_003676.4(DEGS1):c.181G>A (p.Val61Ile)	DEGS1 (V25I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792089	NM_003676.4(DEGS1):c.183A>G (p.Val61=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420558	NM_003676.4(DEGS1):c.183A>C (p.Val61=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619081	NM_003676.4(DEGS1):c.192G>T (p.Leu64Phe)	DEGS1 (L28F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733423	NM_003676.4(DEGS1):c.193G>A (p.Asp65Asn)	DEGS1 (D29N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2836532	NM_003676.4(DEGS1):c.237C>T (p.Cys79=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898635	NM_003676.4(DEGS1):c.241A>G (p.Asn81Asp)	DEGS1 (N45D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292432	NM_003676.4(DEGS1):c.250A>T (p.Met84Leu)	DEGS1 (M84L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3081351	NM_003676.4(DEGS1):c.251T>C (p.Met84Thr)	DEGS1 (M48T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1457673	NM_003676.4(DEGS1):c.252dup (p.Thr85fs)	DEGS1 (T49fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2163358	NM_003676.4(DEGS1):c.291T>C (p.Phe97=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913265	NM_003676.4(DEGS1):c.306A>C (p.Ala102=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 626330	NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter)	DEGS1 (W107* +1 more)	Single nucleotide variant (nonsense)	Leukodystrophy, hypomyelinating, 18	GPathogenic/Likely pathogenic
Select item 626329	NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp)	DEGS1 (N113D +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 626327	NM_003676.4(DEGS1):c.341_342del (p.Leu114fs)	DEGS1 (L78fs +1 more)	Deletion (frameshift variant)	Leukodystrophy, hypomyelinating, 18	GPathogenic
Select item 3081352	NM_003676.4(DEGS1):c.355C>T (p.Pro119Ser)	DEGS1 (P119S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429411	NM_003676.4(DEGS1):c.356C>A (p.Pro119Gln)	DEGS1 (P119Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146506	NM_003676.4(DEGS1):c.364A>G (p.Ile122Val)	DEGS1 (I86V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3065976	NM_003676.4(DEGS1):c.383A>T (p.His128Leu)	DEGS1 (H128L +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GUncertain significance
Select item 626325	NM_003676.4(DEGS1):c.395A>G (p.His132Arg)	DEGS1 (H132R +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GConflicting classifications of pathogenicity
Select item 805859	NM_003676.4(DEGS1):c.397C>T (p.Arg133Trp)	DEGS1 (R133W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 1976531	NM_003676.4(DEGS1):c.398G>A (p.Arg133Gln)	DEGS1 (R133Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587454	NM_003676.4(DEGS1):c.418G>A (p.Val140Ile)	DEGS1 (V104I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1895545	NM_003676.4(DEGS1):c.420C>T (p.Val140=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298776	NM_003676.4(DEGS1):c.500C>G (p.Pro167Arg)	DEGS1 (P167R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1961392	NM_003676.4(DEGS1):c.507T>C (p.Phe169=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805858	NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter)	DEGS1 (R173* +1 more)	Single nucleotide variant (nonsense)	Leukodystrophy, hypomyelinating, 18	GPathogenic/Likely pathogenic
Select item 2429400	NM_003676.4(DEGS1):c.518G>C (p.Arg173Pro)	DEGS1 (R137P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721092	NM_003676.4(DEGS1):c.524T>A (p.Leu175Gln)	DEGS1 (L139Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1167657	NM_003676.4(DEGS1):c.528C>T (p.Phe176=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1445024	NM_003676.4(DEGS1):c.548C>T (p.Thr183Met)	DEGS1 (T147M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805860	NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp)	DEGS1 (N153D +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GConflicting classifications of pathogenicity
Select item 2269895	NM_003676.4(DEGS1):c.569C>T (p.Thr190Ile)	DEGS1 (T154I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1671617	NM_003676.4(DEGS1):c.570C>T (p.Thr190=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606581	NM_003676.4(DEGS1):c.573G>A (p.Val191=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599986	NM_003676.4(DEGS1):c.582C>G (p.Val194=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 626328	NM_003676.4(DEGS1):c.604del (p.Tyr202fs)	DEGS1 (Y166fs +1 more)	Deletion (frameshift variant)	Leukodystrophy, hypomyelinating, 18	GPathogenic
Select item 1486398	NM_003676.4(DEGS1):c.617T>C (p.Ile206Thr)	DEGS1 (I170T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1512718	NM_003676.4(DEGS1):c.634A>G (p.Met212Val)	DEGS1 (M176V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1041652	NM_003676.4(DEGS1):c.708C>G (p.Phe236Leu)	DEGS1 (F200L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985447	NM_003676.4(DEGS1):c.752dup (p.Leu251fs)	DEGS1 (L215fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2268322	NM_003676.4(DEGS1):c.757A>G (p.Thr253Ala)	DEGS1 (T217A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1630964	NM_003676.4(DEGS1):c.759C>A (p.Thr253=)	DEGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625852	NM_003676.4(DEGS1):c.764A>G (p.Asn255Ser)	DEGS1 (N255S +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy +2 more	GPathogenic
Select item 3062080	NM_003676.4(DEGS1):c.775C>T (p.His259Tyr)	DEGS1 (H223Y +1 more)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 774806	NM_003676.4(DEGS1):c.800A>G (p.Asn267Ser)	DEGS1 (N231S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1474900	NM_003676.4(DEGS1):c.809G>C (p.Gly270Ala)	DEGS1 (G234A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1279214	NM_003676.4(DEGS1):c.825+211G>T	DEGS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2502429	NM_003676.4(DEGS1):c.826-1G>A	DEGS1	Single nucleotide variant (splice acceptor variant)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 626324	NM_003676.4(DEGS1):c.839C>T (p.Ala280Val)	DEGS1 (A280V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 3271473	NM_003676.4(DEGS1):c.841G>T (p.Ala281Ser)	DEGS1 (A245S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1172541	NM_003676.4(DEGS1):c.852_855del (p.Tyr283_Tyr284insTer)	DEGS1	Deletion (3 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 18	GPathogenic/Likely pathogenic
Select item 805857	NM_003676.4(DEGS1):c.878G>A (p.Trp293Ter)	DEGS1 (W293* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 18	GUncertain significance
Select item 3052048	NM_003676.4(DEGS1):c.886G>C (p.Val296Leu)	DEGS1 (V260L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DEGS1-related disorder	GLikely benign
Select item 1803481	NM_003676.4(DEGS1):c.890T>C (p.Leu297Pro)	DEGS1 (L261P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1356802	NM_003676.4(DEGS1):c.950A>C (p.Lys317Thr)	DEGS1 (K281T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1232112	NM_003676.4(DEGS1):c.*54A>G	DEGS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1231294	NM_003676.4(DEGS1):c.*144A>G	DEGS1, LOC129932581	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527559	GRCh37/hg19 1q41-42.13(chr1:221303919-227461343)	ACBD3, AIDA +38 more	Copy number gain	not specified	GPathogenic
Select item 1443531	NC_000001.10:g.(?_224380014)_(224380180_?)dup	DEGS1	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance

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