21042[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 431

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +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 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 146318	GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	CALHM4, CALHM5 +91 more	Copy number loss	See cases	GLikely pathogenic
Select item 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 59527	GRCh38/hg38 6q22.1(chr6:117206991-117881842)x3	DCBLD1, GOPC +24 more	Copy number gain	See cases	GUncertain significance
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 180225	NC_000006.11:g.(117961791_117961792)_(118280043_118280044)del	LOC101927919, LOC126859772 +5 more	Deletion	Intellectual disability +2 more	GPathogenic
Select item 180226	NC_000006.11:g.(117971549_117971550)_(118218719_118218720)del	LOC101927919, LOC129389624 +3 more	Deletion	Intellectual disability +2 more	GPathogenic
Select item 1678724	NC_000006.12:g.117675239G>A	LOC101927919, NUS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1321498	NC_000006.12:g.117675454A>G	NUS1	Single nucleotide variant	not provided	GLikely benign
Select item 1222681	NC_000006.12:g.117675468T>C	NUS1	Single nucleotide variant	not provided	GBenign
Select item 1706275	NM_138459.5(NUS1):c.-185G>A	NUS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2844281	NM_138459.5(NUS1):c.-118_159del (p.Met1fs)	NUS1 (M1fs)	Deletion (frameshift variant +1 more)	Congenital disorder of glycosylation, type IAA	GLikely pathogenic
Select item 1327053	NM_138459.5(NUS1):c.-16T>C	NUS1	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, autosomal dominant 55, with seizures +1 more	GBenign
Select item 2656878	NM_138459.5(NUS1):c.-4G>T	NUS1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2810386	NM_138459.5(NUS1):c.3G>A (p.Met1Ile)	NUS1 (M1I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 3337414	NM_138459.5(NUS1):c.5del (p.Thr2fs)	NUS1 (T2fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2432350	NM_138459.5(NUS1):c.9dup (p.Leu4fs)	NUS1 (L4fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2158836	NM_138459.5(NUS1):c.6G>C (p.Thr2=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 1352031	NM_138459.5(NUS1):c.7G>A (p.Gly3Arg)	NUS1 (G3R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1974176	NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)	NUS1	Deletion (inframe_deletion)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1386407	NM_138459.5(NUS1):c.15C>A (p.Tyr5Ter)	NUS1 (Y5*)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1342502	NM_138459.5(NUS1):c.16G>C (p.Glu6Gln)	NUS1 (E6Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GUncertain significance
Select item 2830593	NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)	NUS1 (E6D)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1308590	NM_138459.5(NUS1):c.22_45del (p.Val8_Leu15del)	NUS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2635158	NM_138459.5(NUS1):c.19C>G (p.Leu7Val)	NUS1 (L7V)	Single nucleotide variant (missense variant)	NUS1-related disorder	GUncertain significance
Select item 1805669	NM_138459.5(NUS1):c.22G>T (p.Val8Leu)	NUS1 (V8L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1690323	NM_138459.5(NUS1):c.25_26del (p.Trp9fs)	NUS1 (W9fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2434477	NM_138459.5(NUS1):c.23T>C (p.Val8Ala)	NUS1 (V8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1635951	NM_138459.5(NUS1):c.24G>T (p.Val8=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 1544039	NM_138459.5(NUS1):c.24G>A (p.Val8=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 1329959	NM_138459.5(NUS1):c.26G>A (p.Trp9Ter)	NUS1 (W9*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 55, with seizures	GLikely pathogenic
Select item 987380	NM_138459.5(NUS1):c.28_29dup (p.Val11fs)	NUS1 (V11fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2722840	NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)	NUS1	Duplication (inframe_insertion)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2230141	NM_138459.5(NUS1):c.27G>T (p.Trp9Cys)	NUS1 (W9C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489224	NM_138459.5(NUS1):c.28C>G (p.Arg10Gly)	NUS1 (R10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072893	NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)	NUS1 (R10W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1408172	NM_138459.5(NUS1):c.29G>A (p.Arg10Gln)	NUS1 (R10Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1909854	NM_138459.5(NUS1):c.30G>A (p.Arg10=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 1642188	NM_138459.5(NUS1):c.30G>T (p.Arg10=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 3363413	NM_138459.5(NUS1):c.38_46dup (p.Leu15_Leu16insHisAlaLeu)	NUS1	Duplication	not provided	GUncertain significance
Select item 3252203	NM_138459.5(NUS1):c.32T>C (p.Val11Ala)	NUS1 (V11A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062835	NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)	NUS1 (L12P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1549378	NM_138459.5(NUS1):c.36G>A (p.Leu12=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2738050	NM_138459.5(NUS1):c.39C>T (p.His13=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2901192	NM_138459.5(NUS1):c.45G>T (p.Leu15=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 1961969	NM_138459.5(NUS1):c.45G>C (p.Leu15=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2506517	NM_138459.5(NUS1):c.48_49del (p.Cys17fs)	NUS1 (C17fs)	Microsatellite (frameshift variant)	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 1510254	NM_138459.5(NUS1):c.46C>T (p.Leu16Phe)	NUS1 (L16F)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1710687	NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)	NUS1 (C17R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439418	NM_138459.5(NUS1):c.52C>G (p.Leu18Val)	NUS1 (L18V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1713358	NM_138459.5(NUS1):c.56A>T (p.His19Leu)	NUS1 (H19L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 3014693	NM_138459.5(NUS1):c.57C>G (p.His19Gln)	NUS1 (H19Q)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2919478	NM_138459.5(NUS1):c.57C>T (p.His19=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2820331	NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)	NUS1 (R20P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1573704	NM_138459.5(NUS1):c.63G>C (p.Thr21=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 719043	NM_138459.5(NUS1):c.63G>T (p.Thr21=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA +1 more	GLikely benign
Select item 3344725	NM_138459.5(NUS1):c.66C>T (p.Leu22=)	NUS1	Single nucleotide variant (synonymous variant)	NUS1-related disorder	GLikely benign
Select item 1628885	NM_138459.5(NUS1):c.66C>A (p.Leu22=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2182269	NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)	NUS1 (S24del)	Microsatellite (inframe_deletion)	NUS1-related disorder +1 more	GUncertain significance
Select item 2060450	NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)	NUS1 (T23I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1126256	NM_138459.5(NUS1):c.69C>G (p.Thr23=)	NUS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1453662	NM_138459.5(NUS1):c.74_75delinsAA (p.Trp25Ter)	NUS1 (W25*)	Indel (nonsense)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 935535	NM_138459.5(NUS1):c.74G>A (p.Trp25Ter)	NUS1 (W25*)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1029129	NM_138459.5(NUS1):c.75G>C (p.Trp25Cys)	NUS1 (W25C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GUncertain significance
Select item 2985751	NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)	NUS1 (L26F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 813573	NM_138459.5(NUS1):c.82G>C (p.Val28Leu)	NUS1 (V28L)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 2185755	NM_138459.5(NUS1):c.90C>T (p.Phe30=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2162836	NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle)	NUS1	Indel (inframe_indel)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2983488	NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)	NUS1 (T32A)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2860526	NM_138459.5(NUS1):c.94_101del (p.Thr32fs)	NUS1 (T32fs)	Deletion (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1974238	NM_138459.5(NUS1):c.95C>T (p.Thr32Ile)	NUS1 (T32I)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1723422	NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)	NUS1 (W33R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 655306	NM_138459.5(NUS1):c.99dup (p.Asn34fs)	NUS1 (N34fs)	Duplication (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1699400	NM_138459.5(NUS1):c.99G>A (p.Trp33Ter)	NUS1 (W33*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 936018	NM_138459.5(NUS1):c.100A>G (p.Asn34Asp)	NUS1 (N34D)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 985983	NM_138459.5(NUS1):c.104G>A (p.Trp35Ter)	NUS1 (W35*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2087325	NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)	NUS1 (W35C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2159433	NM_138459.5(NUS1):c.108C>G (p.Ile36Met)	NUS1 (I36M)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GUncertain significance
Select item 2851556	NM_138459.5(NUS1):c.110G>A (p.Trp37Ter)	NUS1 (W37*)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2035862	NM_138459.5(NUS1):c.114G>C (p.Arg38=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2168753	NM_138459.5(NUS1):c.117C>G (p.Arg39=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 1586230	NM_138459.5(NUS1):c.117C>T (p.Arg39=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 2866116	NM_138459.5(NUS1):c.119_132dup (p.Ser45fs)	NUS1 (S45fs)	Duplication (frameshift variant)	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 1878663	NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)	NUS1 (C40Y)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA +1 more	GUncertain significance
Select item 487687	NM_138459.5(NUS1):c.128_141dup (p.Val48fs)	NUS1 (V48fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 55, with seizures +1 more	GPathogenic
Select item 2577019	NM_138459.5(NUS1):c.128_141del (p.Ala43fs)	NUS1 (A43fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2029689	NM_138459.5(NUS1):c.120C>T (p.Cys40=)	NUS1	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IAA	GLikely benign
Select item 1423105	NM_138459.5(NUS1):c.123C>G (p.Cys41Trp)	NUS1 (C41W)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2889854	NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)	NUS1 (R42C)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2787710	NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)	NUS1 (R42P)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 1058249	NM_138459.5(NUS1):c.127G>A (p.Ala43Thr)	NUS1 (A43T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance
Select item 2300044	NM_138459.5(NUS1):c.128C>G (p.Ala43Gly)	NUS1 (A43G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1720510	NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)	NUS1 (A44T)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IAA	GUncertain significance

<< First< Prev

Page of 5