1028[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 146916	GRCh38/hg38 11p15.4(chr11:2883714-2883812)x3	CDKN1C	Copy number gain	See cases	Gconflicting data from submitters
Select item 1050658	NM_001122630.2(CDKN1C):c.*145T>C	CDKN1C	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2641504	NM_001122630.2(CDKN1C):c.*111C>T	CDKN1C	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3039744	NM_001122630.2(CDKN1C):c.*6-4G>A	CDKN1C	Single nucleotide variant (intron variant)	CDKN1C-related disorder	GLikely benign
Select item 3052883	NM_001122630.2(CDKN1C):c.*6-5C>T	CDKN1C	Single nucleotide variant (intron variant)	CDKN1C-related disorder	GLikely benign
Select item 2641505	NM_001122630.2(CDKN1C):c.5+23_5+24dup	CDKN1C	Duplication (intron variant)	not provided	GLikely benign
Select item 254879	NM_001122630.2(CDKN1C):c.*5+18dup	CDKN1C	Duplication (intron variant)	Beckwith-Wiedemann syndrome +2 more	GBenign
Select item 2882911	NM_001122630.2(CDKN1C):c.*5+20G>C	CDKN1C	Single nucleotide variant (intron variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1692138	NM_001122630.2(CDKN1C):c.*5+20G>T	CDKN1C	Single nucleotide variant (intron variant)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 1692137	NM_001122630.2(CDKN1C):c.5+19_5+20insA	CDKN1C	Insertion (intron variant)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 584251	NC_000011.10:g.(?_2883979)_(2885755_?)del	CDKN1C	Deletion	Beckwith-Wiedemann syndrome	GPathogenic
Select item 3030749	NM_001122630.2(CDKN1C):c.*5+15C>T	CDKN1C	Single nucleotide variant (intron variant)	CDKN1C-related disorder	GLikely benign
Select item 3050607	NM_001122630.2(CDKN1C):c.*5+13C>T	CDKN1C	Single nucleotide variant (intron variant)	CDKN1C-related disorder	GLikely benign
Select item 143246	NM_001122630.2(CDKN1C):c.*5+2T>C	CDKN1C	Single nucleotide variant (splice donor variant)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 2582596	NM_001122630.2(CDKN1C):c.*5+1G>A	CDKN1C	Single nucleotide variant (splice donor variant)	IMAGe syndrome +1 more	GUncertain significance
Select item 524732	NM_001122630.2(CDKN1C):c.917G>A (p.Ter306=)	CDKN1C (E129K)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1406444	NM_001122630.2(CDKN1C):c.913C>T (p.Arg305Trp)	CDKN1C (R305W +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1104493	NM_001122630.2(CDKN1C):c.912G>T (p.Leu304=)	CDKN1C (C127F)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 957828	NM_001122630.2(CDKN1C):c.908G>A (p.Arg303Lys)	CDKN1C (G126S +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1616393	NM_001122630.2(CDKN1C):c.903C>G (p.Arg301=)	CDKN1C (A124G)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 844232	NM_001122630.2(CDKN1C):c.903C>T (p.Arg301=)	CDKN1C (A124V)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1041291	NM_001122630.2(CDKN1C):c.902G>A (p.Arg301His)	CDKN1C (R301H +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2680545	NM_001122630.2(CDKN1C):c.901C>T (p.Arg301Cys)	CDKN1C (R301C +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1082412	NM_001122630.2(CDKN1C):c.900G>T (p.Pro300=)	CDKN1C (R123L)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 705851	NM_001122630.2(CDKN1C):c.900G>A (p.Pro300=)	CDKN1C (R123H)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2758717	NM_001122630.2(CDKN1C):c.897C>G (p.Thr299=)	CDKN1C (P122R)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1536588	NM_001122630.2(CDKN1C):c.897C>A (p.Thr299=)	CDKN1C (P122H)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2875743	NM_001122630.2(CDKN1C):c.894G>C (p.Gln298His)	CDKN1C (Q298H +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2199078	NM_001122630.2(CDKN1C):c.893A>G (p.Gln298Arg)	CDKN1C (Q298R +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2088421	NM_001122630.2(CDKN1C):c.893A>T (p.Gln298Leu)	CDKN1C (Q309L +2 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2748096	NM_001122630.2(CDKN1C):c.892C>G (p.Gln298Glu)	CDKN1C (Q298E +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 772801	NM_001122630.2(CDKN1C):c.888G>T (p.Val296=)	CDKN1C (W119L)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 942966	NM_001122630.2(CDKN1C):c.886G>A (p.Val296Met)	CDKN1C (V296M +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 934663	NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=)	CDKN1C (R118Q)	Single nucleotide variant (synonymous variant +1 more)	IMAGe syndrome +1 more	GConflicting classifications of pathogenicity
Select item 412848	NM_001122630.2(CDKN1C):c.885G>C (p.Ser295=)	CDKN1C (R118P)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1810670	NM_001122630.2(CDKN1C):c.884C>A (p.Ser295Ter)	CDKN1C (S295* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1421177	NM_001122630.2(CDKN1C):c.884C>T (p.Ser295Leu)	CDKN1C (S306L +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1103493	NM_001122630.2(CDKN1C):c.882C>T (p.Gly294=)	CDKN1C (A117V)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1444466	NM_001122630.2(CDKN1C):c.881G>A (p.Gly294Asp)	CDKN1C (G305D +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 936076	NM_001122630.2(CDKN1C):c.881G>T (p.Gly294Val)	CDKN1C (G294V +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2122372	NM_001122630.2(CDKN1C):c.880G>A (p.Gly294Ser)	CDKN1C (W116* +2 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2151221	NM_001122630.2(CDKN1C):c.879G>C (p.Val293=)	CDKN1C (W116S)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1373266	NM_001122630.2(CDKN1C):c.877G>C (p.Val293Leu)	CDKN1C (V304L +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 524713	NM_001122630.2(CDKN1C):c.876C>T (p.Gly292=)	CDKN1C (A115V)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 524726	NM_001122630.2(CDKN1C):c.873T>G (p.Pro291=)	CDKN1C (L114R)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 412863	NM_001122630.2(CDKN1C):c.873T>C (p.Pro291=)	CDKN1C (L114P)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1980764	NM_001122630.2(CDKN1C):c.872C>T (p.Pro291Leu)	CDKN1C (P291L +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 132870	NM_001122630.2(CDKN1C):c.872del (p.Pro291fs)	CDKN1C (L114fs +2 more)	Deletion (frameshift variant)	Beckwith-Wiedemann syndrome	GLikely pathogenic
Select item 1591920	NM_001122630.2(CDKN1C):c.870C>T (p.Ala290=)	CDKN1C (P113L)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1584471	NM_001122630.2(CDKN1C):c.870C>G (p.Ala290=)	CDKN1C (P113R)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2853492	NM_001122630.2(CDKN1C):c.869C>T (p.Ala290Val)	CDKN1C (P113S +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 454041	NM_001122630.2(CDKN1C):c.868G>T (p.Ala290Ser)	CDKN1C (A301S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2696353	NM_001122630.2(CDKN1C):c.867C>T (p.Ala289=)	CDKN1C (P112L)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 645470	NM_001122630.2(CDKN1C):c.865G>T (p.Ala289Ser)	CDKN1C (A289S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 524751	NM_001122630.2(CDKN1C):c.864C>T (p.Ser288=)	CDKN1C (A111V)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1713355	NM_001122630.2(CDKN1C):c.862A>G (p.Ser288Gly)	CDKN1C (S288G +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2014540	NM_001122630.2(CDKN1C):c.838_861del (p.Val280_Pro287del)	CDKN1C	Deletion (inframe_deletion +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1035052	NM_001122630.2(CDKN1C):c.861A>C (p.Pro287=)	CDKN1C (Q110P)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1002025	NM_001122630.2(CDKN1C):c.860C>G (p.Pro287Arg)	CDKN1C (P287R +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 737973	NM_001122630.2(CDKN1C):c.855C>G (p.Pro285=)	CDKN1C (P108R)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 454040	NM_001122630.2(CDKN1C):c.855C>T (p.Pro285=)	CDKN1C (P108L)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2849628	NM_001122630.2(CDKN1C):c.854C>G (p.Pro285Arg)	CDKN1C (P108A +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1878991	NM_001122630.2(CDKN1C):c.854C>A (p.Pro285His)	CDKN1C (P108T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854356	NM_001122630.2(CDKN1C):c.853C>G (p.Pro285Ala)	CDKN1C (P285A +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 404249	NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser)	CDKN1C (P296S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2038605	NM_001122630.2(CDKN1C):c.852T>G (p.Cys284Trp)	CDKN1C (C295W +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 598319	NM_001122630.2(CDKN1C):c.852T>C (p.Cys284=)	CDKN1C (V107A)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2417114	NM_001122630.2(CDKN1C):c.849G>C (p.Pro283=)	CDKN1C (R106P)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2141411	NM_001122630.2(CDKN1C):c.849G>T (p.Pro283=)	CDKN1C (R106L)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 753779	NM_001122630.2(CDKN1C):c.849G>A (p.Pro283=)	CDKN1C (R106H)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2811862	NM_001122630.2(CDKN1C):c.848C>T (p.Pro283Leu)	CDKN1C (P283L +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1897411	NM_001122630.2(CDKN1C):c.848C>A (p.Pro283Gln)	CDKN1C (P283Q +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1437341	NM_001122630.2(CDKN1C):c.848C>G (p.Pro283Arg)	CDKN1C (P283R +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1645549	NM_001122630.2(CDKN1C):c.846G>A (p.Ala282=)	CDKN1C (R105H)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 2139427	NM_001122630.2(CDKN1C):c.845C>T (p.Ala282Val)	CDKN1C (A293V +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1418203	NM_001122630.2(CDKN1C):c.844G>A (p.Ala282Thr)	CDKN1C (A282T +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 755648	NM_001122630.2(CDKN1C):c.843C>T (p.Pro281=)	CDKN1C (P104L)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 454039	NM_001122630.2(CDKN1C):c.843C>G (p.Pro281=)	CDKN1C (P104R)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1903627	NM_001122630.2(CDKN1C):c.842C>G (p.Pro281Arg)	CDKN1C (P281R +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1809659	NM_001122630.2(CDKN1C):c.842C>T (p.Pro281Leu)	CDKN1C (P104S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 580168	NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala)	CDKN1C (P292A +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +1 more	GUncertain significance
Select item 1134619	NM_001122630.2(CDKN1C):c.840C>A (p.Val280=)	CDKN1C (S103Y)	Single nucleotide variant (synonymous variant +1 more)	Beckwith-Wiedemann syndrome	GLikely benign
Select item 1054589	NM_001122630.2(CDKN1C):c.838G>A (p.Val280Ile)	CDKN1C (M102I +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 2024850	NM_001122630.2(CDKN1C):c.837del (p.Asp279fs)	CDKN1C (D279fs +2 more)	Deletion (frameshift variant)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 2840653	NM_001122630.2(CDKN1C):c.836A>G (p.Asp279Gly)	CDKN1C (D290G +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 1708131	NM_001122630.2(CDKN1C):c.832_835delinsCTGCGCCTGA (p.Gly278_Asp279delinsLeuArgLeuAsn)	CDKN1C	Indel (inframe_indel +1 more)	Beckwith-Wiedemann syndrome	GPathogenic
Select item 1411471	NM_001122630.2(CDKN1C):c.835G>A (p.Asp279Asn)	CDKN1C (D279N +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 939668	NM_001122630.2(CDKN1C):c.832G>T (p.Gly278Cys)	CDKN1C (G289C +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance
Select item 840908	NM_001122630.2(CDKN1C):c.832G>A (p.Gly278Ser)	CDKN1C (G278S +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome	GUncertain significance

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