64324[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 146233	GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3	ADAMTS2, ARL10 +676 more	Copy number gain	See cases	GPathogenic
Select item 152731	GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3	LOC129995246, LOC129995247 +622 more	Copy number gain	See cases	GPathogenic
Select item 153687	GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1	LOC129995359, LOC129995360 +386 more	Copy number loss	See cases	GPathogenic
Select item 58122	GRCh38/hg38 5q35.2-35.3(chr5:175851047-178365049)x3	FAM153A, FAM153B +176 more	Copy number gain	See cases	GPathogenic
Select item 58123	GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3	ADAMTS2, ARL10 +292 more	Copy number gain	See cases	GPathogenic
Select item 154297	GRCh38/hg38 5q35.2-35.3(chr5:175989092-178009412)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59300	GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1	ARL10, B4GALT7 +145 more	Copy number loss	See cases	GPathogenic
Select item 59301	GRCh38/hg38 5q35.2-35.3(chr5:176115257-177646633)x1	LOC129995374, LOC129995375 +136 more	Copy number loss	See cases	GPathogenic
Select item 154443	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177995759)x1	ARL10, B4GALT7 +142 more	Copy number loss	See cases	GPathogenic
Select item 57051	GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1	ARL10, CDHR2 +129 more	Copy number loss	See cases	GPathogenic
Select item 155396	GRCh38/hg38 5q35.2-35.3(chr5:176143674-178009412)x1	ARL10, B4GALT7 +141 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59303	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177646633)x1	ARL10, B4GALT7 +134 more	Copy number loss	See cases	GPathogenic
Select item 59302	GRCh38/hg38 5q35.2-35.3(chr5:176152073-177986213)x1	ARL10, B4GALT7 +140 more	Copy number loss	See cases	GPathogenic
Select item 153772	GRCh38/hg38 5q35.2-35.3(chr5:176291838-178662699)x1	ARL10, B4GALT7 +172 more	Copy number loss	See cases	GPathogenic
Select item 2579264	GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1	CDHR2, EIF4E1B +65 more	Copy number loss	Sotos syndrome	GPathogenic
Select item 1707460	Single allele	CDHR2, EIF4E1B +71 more	Duplication	5q35 microduplication syndrome	GPathogenic
Select item 154471	GRCh38/hg38 5q35.2-35.3(chr5:176517339-177709289)x1	B4GALT7, CDHR2 +113 more	Copy number loss	See cases	GPathogenic
Select item 154581	GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1	ADAMTS2, B4GALT7 +325 more	Copy number loss	See cases	GPathogenic
Select item 3338422	Single allele	F12, FGFR4 +34 more	Duplication	Russell-Silver syndrome	GPathogenic
Select item 152817	GRCh38/hg38 5q35.3(chr5:177118445-177374609)x3	LMAN2, LOC121099716 +26 more	Copy number gain	See cases	GLikely pathogenic
Select item 802179	NM_172349.5(NSD1):c.-151+112_-151+113del	LOC121740633, NSD1	Deletion (intron variant)	Sotos syndrome	GUncertain significance
Select item 1239366	NM_022455.5(NSD1):c.-18+160T>C	NSD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218253	NM_022455.5(NSD1):c.-17-340C>T	NSD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190412	NM_022455.5(NSD1):c.-17-106A>G	NSD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 453987	NC_000005.10:g.(?_177135084)_(177295479_?)del	LOC126807619, LOC129995362 +1 more	Deletion	Beckwith-Wiedemann syndrome	GPathogenic
Select item 652389	NC_000005.10:g.(?_177135094)_(177295469_?)del	LOC126807619, LOC129995362 +1 more	Deletion	Beckwith-Wiedemann syndrome +1 more	GPathogenic
Select item 211715	NM_022455.5(NSD1):c.-8G>A	NSD1	Single nucleotide variant (5 prime UTR variant)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1362160	NM_022455.5(NSD1):c.19C>A (p.Leu7Ile)	NSD1 (L7I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2534358	NM_022455.5(NSD1):c.22C>T (p.Pro8Ser)	NSD1 (P8S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1708077	NM_022455.5(NSD1):c.26G>T (p.Arg9Ile)	NSD1 (R9I)	Single nucleotide variant (missense variant)	Sotos syndrome	GLikely benign
Select item 651239	NM_022455.5(NSD1):c.29G>A (p.Arg10Lys)	NSD1 (R10K)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 379167	NM_022455.5(NSD1):c.34T>C (p.Cys12Arg)	NSD1 (C12R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2475015	NM_022455.5(NSD1):c.37C>A (p.Leu13Met)	NSD1 (L13M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716193	NM_022455.5(NSD1):c.39G>C (p.Leu13=)	NSD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3053284	NM_022455.5(NSD1):c.42G>C (p.Leu14=)	NSD1	Single nucleotide variant (5 prime UTR variant +1 more)	NSD1-related disorder	GLikely benign
Select item 3591945	NM_022455.5(NSD1):c.53A>G (p.Asn18Ser)	NSD1 (N18S)	Single nucleotide variant (5 prime UTR variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1028264	NM_022455.5(NSD1):c.56C>T (p.Pro19Leu)	NSD1 (P19L)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 1400597	NM_022455.5(NSD1):c.58G>T (p.Val20Leu)	NSD1 (V20L)	Single nucleotide variant (missense variant)	Sotos syndrome	GUncertain significance
Select item 3341084	NM_022455.5(NSD1):c.70G>T (p.Ala24Ser)	NSD1 (A24S)	Single nucleotide variant (5 prime UTR variant +1 more)	Sotos syndrome	GLikely pathogenic
Select item 3591946	NM_022455.5(NSD1):c.74del (p.Pro25fs)	NSD1 (P25fs)	Deletion (5 prime UTR variant +1 more)	Sotos syndrome	GUncertain significance
Select item 252792	NM_022455.5(NSD1):c.72C>T (p.Ala24=)	NSD1 (P2L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3202278	NM_022455.5(NSD1):c.77A>G (p.Glu26Gly)	NSD1 (E26G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1181820	NM_022455.5(NSD1):c.91C>G (p.Pro31Ala)	NSD1 (P31A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1972597	NM_022455.5(NSD1):c.97G>A (p.Gly33Ser)	NSD1 (G33S)	Single nucleotide variant (5 prime UTR variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1305104	NM_022455.5(NSD1):c.105T>G (p.Gly35=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 159259	NM_022455.5(NSD1):c.108A>G (p.Gln36=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1362153	NM_022455.5(NSD1):c.113A>G (p.Asn38Ser)	NSD1 (N38S)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 588341	NM_022455.5(NSD1):c.140C>G (p.Thr47Ser)	NSD1 (T47S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1945563	NM_022455.5(NSD1):c.141T>C (p.Thr47=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 159265	NM_022455.5(NSD1):c.142A>G (p.Met48Val)	NSD1 (M48V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GConflicting classifications of pathogenicity
Select item 859893	NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)	NSD1 (Q49*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1939734	NM_022455.5(NSD1):c.151T>C (p.Ser51Pro)	NSD1 (S51P)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 167391	NM_022455.5(NSD1):c.153G>A (p.Ser51=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2662504	NM_022455.5(NSD1):c.173A>G (p.Gln58Arg)	NSD1 (Q58R)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3591947	NM_022455.5(NSD1):c.179C>T (p.Ala60Val)	NSD1 (A60V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 3591948	NM_022455.5(NSD1):c.191A>G (p.Asp64Gly)	NSD1 (D64G)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1012200	NM_022455.5(NSD1):c.197dup (p.Ser67fs)	NSD1 (S67fs)	Duplication (frameshift variant +1 more)	Sotos syndrome	GLikely pathogenic
Select item 391167	NM_022455.5(NSD1):c.198A>G (p.Pro66=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2104048	NM_022455.5(NSD1):c.199T>A (p.Ser67Thr)	NSD1 (S67T)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 575024	NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter)	NSD1 (Y69*)	Single nucleotide variant (nonsense +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 1372217	NM_022455.5(NSD1):c.209T>G (p.Ile70Ser)	NSD1 (I70S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1618913	NM_022455.5(NSD1):c.222A>G (p.Arg74=)	NSD1	Single nucleotide variant (intron variant +1 more)	Sotos syndrome	GLikely benign
Select item 454045	NM_022455.5(NSD1):c.241A>G (p.Met81Val)	NSD1 (M81V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2283142	NM_022455.5(NSD1):c.242T>C (p.Met81Thr)	NSD1 (M81T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 282981	NM_022455.5(NSD1):c.243G>C (p.Met81Ile)	NSD1 (M81I)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GUncertain significance
Select item 2111666	NM_022455.5(NSD1):c.252A>G (p.Val84=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 3257695	NM_022455.5(NSD1):c.255G>A (p.Glu85=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3591949	NM_022455.5(NSD1):c.266G>A (p.Gly89Glu)	NSD1 (G89E)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 2619676	NM_022455.5(NSD1):c.274G>A (p.Asp92Asn)	NSD1 (D92N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1913455	NM_022455.5(NSD1):c.290T>A (p.Phe97Tyr)	NSD1 (F97Y)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GLikely benign
Select item 1188678	NM_022455.5(NSD1):c.293A>T (p.Gln98Leu)	NSD1 (Q98L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2631429	NM_022455.5(NSD1):c.319G>A (p.Ala107Thr)	NSD1 (A107T)	Single nucleotide variant (missense variant +1 more)	NSD1-related disorder	GUncertain significance
Select item 3591950	NM_022455.5(NSD1):c.323A>G (p.Gln108Arg)	NSD1 (Q108R)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1430262	NM_022455.5(NSD1):c.331A>G (p.Ile111Val)	NSD1 (I111V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GLikely benign
Select item 1215377	NM_022455.5(NSD1):c.334G>T (p.Val112Phe)	NSD1 (V112F)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GUncertain significance
Select item 3393833	NM_022455.5(NSD1):c.337T>G (p.Cys113Gly)	NSD1 (C113G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3591952	NM_022455.5(NSD1):c.339C>G (p.Cys113Trp)	NSD1 (C113W)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 159308	NM_022455.5(NSD1):c.339C>T (p.Cys113=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1450790	NM_022455.5(NSD1):c.340A>G (p.Thr114Ala)	NSD1 (T114A)	Single nucleotide variant (missense variant +1 more)	NSD1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1431155	NM_022455.5(NSD1):c.340A>C (p.Thr114Pro)	NSD1 (T114P)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 3376958	NM_022455.5(NSD1):c.343del (p.Ser115fs)	NSD1 (S115fs)	Deletion (frameshift variant +1 more)	Sotos syndrome	GLikely benign
Select item 3591953	NM_022455.5(NSD1):c.344C>T (p.Ser115Phe)	NSD1 (S115F)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 809846	NM_022455.5(NSD1):c.346T>G (p.Leu116Val)	NSD1 (L116V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 159309	NM_022455.5(NSD1):c.352C>G (p.Pro118Ala)	NSD1 (P118A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2005671	NM_022455.5(NSD1):c.353C>T (p.Pro118Leu)	NSD1 (P118L)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 3591954	NM_022455.5(NSD1):c.359G>A (p.Gly120Asp)	NSD1 (G120D)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 3591955	NM_022455.5(NSD1):c.362C>T (p.Pro121Leu)	NSD1 (P121L)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 3591956	NM_022455.5(NSD1):c.376A>G (p.Met126Val)	NSD1 (M126V)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 1735224	NM_022455.5(NSD1):c.381A>T (p.Lys127Asn)	NSD1 (K127N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1697178	NM_022455.5(NSD1):c.383A>G (p.Gln128Arg)	NSD1 (Q128R)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome +1 more	GUncertain significance
Select item 3591957	NM_022455.5(NSD1):c.394T>C (p.Cys132Arg)	NSD1 (C132R)	Single nucleotide variant (missense variant +1 more)	Sotos syndrome	GUncertain significance
Select item 2629849	NM_022455.5(NSD1):c.395G>A (p.Cys132Tyr)	NSD1 (C132Y)	Single nucleotide variant (missense variant +1 more)	NSD1-related disorder	GUncertain significance
Select item 159317	NM_022455.5(NSD1):c.395G>C (p.Cys132Ser)	NSD1 (C132S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2430658	NM_022455.5(NSD1):c.398A>G (p.Asn133Ser)	NSD1 (N133S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3591958	NM_022455.5(NSD1):c.407dup (p.Pro136_Glu137insTer)	NSD1	Duplication (frameshift variant +1 more)	Sotos syndrome	GUncertain significance
Select item 2074972	NM_022455.5(NSD1):c.405C>T (p.Ser135=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome	GLikely benign
Select item 1738481	NM_022455.5(NSD1):c.417G>A (p.Gln139=)	NSD1	Single nucleotide variant (synonymous variant +1 more)	Sotos syndrome +1 more	GConflicting classifications of pathogenicity

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