83700[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 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 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	LOC130007100, LOC130007101 +145 more	Copy number loss	See cases	GPathogenic
Select item 58950	GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1	ACAD8, ADAMTS15 +123 more	Copy number loss	See cases	GPathogenic
Select item 154559	GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1	ACAD8, B3GAT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 148509	GRCh38/hg38 11q25(chr11:131212028-135075271)x1	ACAD8, B3GAT1 +88 more	Copy number loss	See cases	GPathogenic
Select item 58951	GRCh38/hg38 11q25(chr11:131587470-134609295)x1	ACAD8, B3GAT1 +75 more	Copy number loss	See cases	GPathogenic
Select item 155588	GRCh38/hg38 11q25(chr11:132588975-135068576)x1	ACAD8, B3GAT1 +65 more	Copy number loss	See cases	GUncertain significance
Select item 144517	GRCh38/hg38 11q25(chr11:132936725-134998513)x1	LOC130007119, LOC130007120 +62 more	Copy number loss	See cases	GPathogenic
Select item 155223	GRCh38/hg38 11q25(chr11:133169303-135068576)x1	ACAD8, B3GAT1 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 1249709	NC_000011.10:g.134068835C>G	JAM3	Single nucleotide variant	not provided	GBenign
Select item 1186860	NM_032801.5(JAM3):c.-8C>T	JAM3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 827781	NM_032801.5(JAM3):c.1A>G (p.Met1Val)	JAM3 (M1V)	Single nucleotide variant (missense variant +1 more)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GPathogenic
Select item 931312	NM_032801.5(JAM3):c.2T>A (p.Met1Lys)	JAM3 (M1K)	Single nucleotide variant (missense variant +1 more)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GLikely pathogenic
Select item 41883	NM_032801.5(JAM3):c.2T>G (p.Met1Arg)	JAM3 (M1R)	Single nucleotide variant (missense variant +1 more)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GPathogenic
Select item 2188032	NM_032801.5(JAM3):c.4G>T (p.Ala2Ser)	JAM3 (A2S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2099545	NM_032801.5(JAM3):c.14G>A (p.Arg5Gln)	JAM3 (R5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966957	NM_032801.5(JAM3):c.23G>A (p.Arg8Gln)	JAM3 (R8Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935200	NM_032801.5(JAM3):c.40C>T (p.Arg14Trp)	JAM3 (R14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 779383	NM_032801.5(JAM3):c.43C>G (p.Leu15Val)	JAM3 (L15V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2271906	NM_032801.5(JAM3):c.76+5G>T	JAM3	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1217180	NM_032801.5(JAM3):c.76+201C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231657	NM_032801.5(JAM3):c.76+253C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801418	NM_032801.5(JAM3):c.76+25456_76+25517del	JAM3	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1201266	NM_032801.5(JAM3):c.77-45G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674559	NM_032801.5(JAM3):c.77-17T>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2073132	NM_032801.5(JAM3):c.77-9C>G	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2205692	NM_032801.5(JAM3):c.113A>G (p.Asn38Ser)	JAM3 (N38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2060320	NM_032801.5(JAM3):c.116G>A (p.Arg39Gln)	JAM3 (R39Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1587832	NM_032801.5(JAM3):c.117A>T (p.Arg39=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915311	NM_032801.5(JAM3):c.142+4_142+7del	JAM3	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 1904997	NM_032801.5(JAM3):c.142+3A>G	JAM3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2977955	NM_032801.5(JAM3):c.142+12C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288505	NM_032801.5(JAM3):c.142+49T>C	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302860	NM_032801.5(JAM3):c.142+91del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1252645	NM_032801.5(JAM3):c.142+136G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212267	NM_032801.5(JAM3):c.142+181G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242740	NM_032801.5(JAM3):c.142+231C>A	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223096	NM_032801.5(JAM3):c.143-256C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261299	NM_032801.5(JAM3):c.143-184G>T	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191926	NM_032801.5(JAM3):c.143-113G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182773	NM_032801.5(JAM3):c.143-64G>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 715028	NM_032801.5(JAM3):c.143-8C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1630551	NM_032801.5(JAM3):c.143-5G>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1491785	NM_032801.5(JAM3):c.148G>A (p.Glu50Lys)	JAM3 (E50K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963799	NM_032801.5(JAM3):c.168G>A (p.Thr56=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184385	NM_032801.5(JAM3):c.174G>A (p.Ser58=)	JAM3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327730	NM_032801.5(JAM3):c.179C>T (p.Thr60Ile)	JAM3 (T60I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 872565	NM_032801.5(JAM3):c.230_231del (p.Tyr77fs)	JAM3 (Y77fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2664218	NM_032801.5(JAM3):c.231del (p.Thr76_Tyr77insTer)	JAM3	Deletion (nonsense)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GLikely pathogenic
Select item 2095131	NM_032801.5(JAM3):c.245A>G (p.Asn82Ser)	JAM3 (N82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912326	NM_032801.5(JAM3):c.256+13A>C	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022608	NM_032801.5(JAM3):c.256+17C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261866	NM_032801.5(JAM3):c.256+57A>G	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266191	NM_032801.5(JAM3):c.256+128del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1278995	NM_032801.5(JAM3):c.256+125_256+129del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1272801	NM_032801.5(JAM3):c.256+173T>C	JAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 993262	NM_032801.5(JAM3):c.256+1260G>C	JAM3	Single nucleotide variant (intron variant)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GLikely pathogenic
Select item 1280479	NM_032801.5(JAM3):c.257-153_257-152del	JAM3	Deletion (intron variant)	not provided	GBenign
Select item 1190686	NM_032801.5(JAM3):c.257-103G>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963138	NM_032801.5(JAM3):c.257-16C>T	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908321	NM_032801.5(JAM3):c.257-15G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970948	NM_032801.5(JAM3):c.257-13G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747918	NM_032801.5(JAM3):c.257-4G>A	JAM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3112200	NM_032801.5(JAM3):c.266C>T (p.Ala89Val)	JAM3 (A89V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1103723	NM_032801.5(JAM3):c.267G>A (p.Ala89=)	JAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714519	NM_032801.5(JAM3):c.285G>A (p.Leu95=)	JAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1521567	NM_032801.5(JAM3):c.290A>C (p.Lys97Thr)	JAM3 (K97T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 41882	NM_032801.5(JAM3):c.346G>A (p.Glu116Lys)	JAM3 (E116K)	Single nucleotide variant (missense variant +1 more)	Porencephaly-microcephaly-bilateral congenital cataract syndrome	GPathogenic
Select item 1957603	NM_032801.5(JAM3):c.351C>A (p.Val117=)	JAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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