55823[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 150522	GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3	LOC130007002, LOC130007003 +499 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 148415	GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3	ABCG4, C2CD2L +40 more	Copy number gain	See cases	GLikely benign
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2981548	NM_021729.6(VPS11):c.6G>A (p.Ala2=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2972729	NM_021729.6(VPS11):c.6G>C (p.Ala2=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2891142	NM_021729.6(VPS11):c.9C>T (p.Ala3=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2043378	NM_021729.6(VPS11):c.10T>C (p.Tyr4His)	LOC130006886, VPS11 (Y4H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2065202	NM_021729.6(VPS11):c.13C>T (p.Leu5=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1612557	NM_021729.6(VPS11):c.15G>A (p.Leu5=)	LOC130006886, VPS11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2896867	NM_021729.6(VPS11):c.24G>A (p.Arg8=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2055756	NM_021729.6(VPS11):c.24G>C (p.Arg8=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3002072	NM_021729.6(VPS11):c.27C>T (p.Arg9=)	VPS11, LOC130006886	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2966844	NM_021729.6(VPS11):c.30C>T (p.Phe10=)	LOC130006886, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1479845	NM_021729.6(VPS11):c.30C>A (p.Phe10Leu)	LOC130006886, VPS11 (F10L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1923763	NM_021729.6(VPS11):c.36C>T (p.Phe12=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2873970	NM_021729.6(VPS11):c.39C>T (p.Phe13=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1485539	NM_021729.6(VPS11):c.40G>C (p.Asp14His)	VPS11 (D14H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2984001	NM_021729.6(VPS11):c.45G>A (p.Lys15=)	VPS11	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3000301	NM_021729.6(VPS11):c.48G>A (p.Glu16=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2394377	NM_021729.6(VPS11):c.52G>A (p.Val18Met)	VPS11 (V18M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1926285	NM_021729.6(VPS11):c.52G>C (p.Val18Leu)	VPS11 (V18L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3332142	NM_021729.6(VPS11):c.53T>G (p.Val18Gly)	VPS11 (V18G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2963093	NM_021729.6(VPS11):c.60G>A (p.Glu20=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2960064	NM_021729.6(VPS11):c.72T>C (p.Asn24=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1403396	NM_021729.6(VPS11):c.79G>C (p.Ala27Pro)	VPS11 (A27P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2799730	NM_021729.6(VPS11):c.81C>T (p.Ala27=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2559510	NM_021729.6(VPS11):c.82G>A (p.Ala28Thr)	VPS11 (A28T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2764970	NM_021729.6(VPS11):c.84T>C (p.Ala28=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 784205	NM_021729.6(VPS11):c.87C>T (p.Pro29=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 3188739	NM_021729.6(VPS11):c.100G>T (p.Ala34Ser)	LOC130006887, VPS11 (A34S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 806747	NM_021729.6(VPS11):c.104C>T (p.Ser35Phe)	VPS11, LOC130006887 (S35F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2847288	NM_021729.6(VPS11):c.108A>T (p.Gly36=)	LOC130006887, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2168577	NM_021729.6(VPS11):c.111C>T (p.Ser37=)	LOC130006887, VPS11	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1568930	NM_021729.6(VPS11):c.111C>G (p.Ser37=)	LOC130006887, VPS11	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2807972	NM_021729.6(VPS11):c.129T>C (p.Leu43=)	LOC130006887, VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2979904	NM_021729.6(VPS11):c.135C>T (p.Leu45=)	LOC130006887, VPS11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2697719	NM_021729.6(VPS11):c.135C>G (p.Leu45=)	LOC130006887, VPS11	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1326862	NM_021729.6(VPS11):c.136C>T (p.Pro46Ser)	LOC130006887, VPS11 (P46S)	Single nucleotide variant (5 prime UTR variant +2 more)	Dystonia 32	GPathogenic
Select item 2972592	NM_021729.6(VPS11):c.150T>C (p.Thr50=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2992551	NM_021729.6(VPS11):c.159C>T (p.Asp53=)	VPS11	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2855660	NM_021729.6(VPS11):c.175C>T (p.Leu59=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2995555	NM_021729.6(VPS11):c.177G>C (p.Leu59=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2830801	NM_021729.6(VPS11):c.183T>C (p.Phe61=)	VPS11	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2994613	NM_021729.6(VPS11):c.187+11T>A	VPS11	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2961494	NM_021729.6(VPS11):c.187+13del	VPS11	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2572398	NM_021729.6(VPS11):c.187+70_187+73del	VPS11 (C5fs)	Deletion (frameshift variant +1 more)	Hypomyelinating leukodystrophy 12	GUncertain significance
Select item 3040830	NM_021729.6(VPS11):c.187+92G>C	VPS11 (A12P)	Single nucleotide variant (missense variant +1 more)	VPS11-related disorder	GBenign
Select item 872038	NM_021729.6(VPS11):c.187+137A>G	VPS11 (T27A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1301765	NM_021729.6(VPS11):c.187+159A>G	VPS11 (H34R)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12	GBenign
Select item 1905242	NM_021729.6(VPS11):c.188-19C>T	VPS11 (L47F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2904439	NM_021729.6(VPS11):c.188-6C>G	VPS11 (P51R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1806086	NM_021729.6(VPS11):c.190A>C (p.Met64Leu)	VPS11 (M54L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12	GUncertain significance
Select item 2986466	NM_021729.6(VPS11):c.218G>A (p.Arg73His)	VPS11 (R73H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1168493	NM_021729.6(VPS11):c.223dup (p.Leu75fs)	VPS11 (L65fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GBenign
Select item 717353	NM_021729.6(VPS11):c.224dup (p.Gln76fs)	VPS11 (Q66fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GBenign
Select item 3013972	NM_021729.6(VPS11):c.237C>T (p.Gly79=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959540	NM_021729.6(VPS11):c.255A>G (p.Leu85=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1517711	NM_021729.6(VPS11):c.256C>T (p.Arg86Trp)	VPS11 (R86W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2891653	NM_021729.6(VPS11):c.267C>T (p.His89=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1720796	NM_021729.6(VPS11):c.268C>A (p.Leu90Met)	VPS11 (L80M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855455	NM_021729.6(VPS11):c.276A>G (p.Gln92=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1929592	NM_021729.6(VPS11):c.277C>A (p.Leu93Met)	VPS11 (L83M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2184014	NM_021729.6(VPS11):c.330C>T (p.Asn110=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2237744	NM_021729.6(VPS11):c.331C>T (p.Pro111Ser)	VPS11 (P101S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 546690	NM_021729.6(VPS11):c.336+8C>T	VPS11	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2708451	NM_021729.6(VPS11):c.336+10A>G	VPS11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817870	NM_021729.6(VPS11):c.336+16G>A	VPS11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848893	NM_021729.6(VPS11):c.336+20T>C	VPS11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001346	NM_021729.6(VPS11):c.337-20C>T	VPS11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869714	NM_021729.6(VPS11):c.337-17C>T	VPS11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2714112	NM_021729.6(VPS11):c.337-16T>C	VPS11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622946	NM_021729.6(VPS11):c.337-8G>C	VPS11 (C104S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1516617	NM_021729.6(VPS11):c.337-5C>T	VPS11 (P115L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2807911	NM_021729.6(VPS11):c.345C>T (p.Ile115=)	VPS11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2078524	NM_021729.6(VPS11):c.351C>T (p.Asn117=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2907730	NM_021729.6(VPS11):c.352C>T (p.Leu118=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890000	NM_021729.6(VPS11):c.360G>A (p.Lys120=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1909541	NM_021729.6(VPS11):c.366T>C (p.Asp122=)	VPS11	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1029819	NM_021729.6(VPS11):c.367G>A (p.Gly123Ser)	VPS11 (G113S +3 more)	Single nucleotide variant (missense variant +1 more)	Hypomyelinating leukodystrophy 12 +1 more	GConflicting classifications of pathogenicity
Select item 2885590	NM_021729.6(VPS11):c.372C>A (p.Gly124=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920661	NM_021729.6(VPS11):c.383G>T (p.Cys128Phe)	VPS11 (C128F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1897480	NM_021729.6(VPS11):c.387T>A (p.Thr129=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2721610	NM_021729.6(VPS11):c.393C>A (p.Ile131=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2101938	NM_021729.6(VPS11):c.396C>G (p.Phe132Leu)	VPS11 (F136L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2743135	NM_021729.6(VPS11):c.417G>A (p.Glu139=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2777791	NM_021729.6(VPS11):c.453T>C (p.Asn151=)	VPS11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2065358	NM_021729.6(VPS11):c.463A>C (p.Met155Leu)	VPS11 (M145L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3188741	NM_021729.6(VPS11):c.470T>A (p.Ile157Asn)	VPS11 (I151N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2876873	NM_021729.6(VPS11):c.472+8G>A	VPS11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806208	NM_021729.6(VPS11):c.472+8G>C	VPS11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775931	NM_021729.6(VPS11):c.472+9A>G	VPS11	Single nucleotide variant (intron variant)	not provided	GLikely benign

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