10043[geneid] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 2688109	NM_005488.2(TOM1):c.-120G>A	TOM1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2484447	NM_005488.3(TOM1):c.50T>G (p.Ile17Ser)	TOM1 (I17S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2687946	NM_005488.3(TOM1):c.52+104G>C	TOM1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1301579	NM_005488.3(TOM1):c.53-8C>A	TOM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3181111	NM_005488.3(TOM1):c.82G>A (p.Glu28Lys)	TOM1 (E28K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 778918	NM_005488.3(TOM1):c.114C>T (p.Asp38=)	TOM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3181101	NM_005488.3(TOM1):c.118A>G (p.Ile40Val)	TOM1 (I40V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067596	NM_005488.3(TOM1):c.138-6C>T	TOM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3181106	NM_005488.3(TOM1):c.175G>A (p.Val59Met)	TOM1 (V59M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181107	NM_005488.3(TOM1):c.251G>A (p.Arg84His)	LOC126863133, TOM1 (R51H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181108	NM_005488.3(TOM1):c.268G>A (p.Ala90Thr)	LOC126863133, TOM1 (A57T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218271	NM_005488.3(TOM1):c.356A>G (p.Asn119Ser)	LOC126863133, TOM1 (N119S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273262	NM_005488.3(TOM1):c.379G>A (p.Ala127Thr)	LOC126863133, TOM1 (A94T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525656	NM_005488.3(TOM1):c.397G>A (p.Asp133Asn)	LOC126863133, TOM1 (D133N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606764	NM_005488.3(TOM1):c.412G>T (p.Val138Phe)	LOC126863133, TOM1 (V105F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217386	NM_005488.3(TOM1):c.434G>A (p.Arg145Gln)	LOC126863133, TOM1 (R145Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2653088	NM_005488.3(TOM1):c.497A>G (p.Gln166Arg)	LOC126863133, TOM1 (Q133R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2576123	NM_005488.3(TOM1):c.500G>C (p.Arg167Thr)	LOC126863133, TOM1 (R134T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2411312	NM_005488.3(TOM1):c.505G>A (p.Val169Met)	LOC126863133, TOM1 (V124M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181109	NM_005488.3(TOM1):c.529G>A (p.Gly177Arg)	LOC126863133, TOM1 (G132R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233279	NM_005488.3(TOM1):c.616G>A (p.Gly206Ser)	LOC126863133, TOM1 (G161S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 712287	NM_005488.3(TOM1):c.705G>A (p.Ser235=)	TOM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2532631	NM_005488.3(TOM1):c.716C>T (p.Thr239Met)	TOM1 (T206M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527317	NM_005488.3(TOM1):c.731C>T (p.Thr244Ile)	TOM1 (T199I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218566	NM_005488.3(TOM1):c.745G>A (p.Ala249Thr)	TOM1 (A204T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342348	NM_005488.3(TOM1):c.790A>G (p.Met264Val)	TOM1 (M219V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2336857	NM_005488.3(TOM1):c.794A>G (p.Gln265Arg)	TOM1 (Q220R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526135	NM_005488.3(TOM1):c.826G>A (p.Ala276Thr)	TOM1 (A231T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517675	NM_005488.3(TOM1):c.830A>G (p.Asn277Ser)	TOM1 (N244S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2618818	NM_005488.3(TOM1):c.890G>T (p.Arg297Leu)	TOM1 (R297L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181112	NM_005488.3(TOM1):c.908G>A (p.Arg303Gln)	TOM1 (R258Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539918	NM_005488.3(TOM1):c.914G>A (p.Arg305Gln)	TOM1 (R272Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248686	NM_005488.3(TOM1):c.919G>T (p.Gly307Cys)	TOM1 (G307C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1224492	NM_005488.3(TOM1):c.920G>A (p.Gly307Asp)	TOM1 (G262D +1 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 85 and autoimmunity	GPathogenic
Select item 2401266	NM_005488.3(TOM1):c.955G>T (p.Ala319Ser)	TOM1 (A286S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469446	NM_005488.3(TOM1):c.970G>A (p.Asp324Asn)	TOM1 (D279N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524974	NM_005488.3(TOM1):c.997G>A (p.Gly333Ser)	TOM1 (G333S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3181098	NM_005488.3(TOM1):c.1018G>A (p.Ala340Thr)	TOM1 (A307T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 3181099	NM_005488.3(TOM1):c.1117C>T (p.Arg373Trp)	TOM1 (R340W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181100	NM_005488.3(TOM1):c.1118G>A (p.Arg373Gln)	TOM1 (R373Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653089	NM_005488.3(TOM1):c.1133C>T (p.Ala378Val)	TOM1 (A333V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2653090	NM_005488.3(TOM1):c.1179C>T (p.Asp393=)	TOM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2386179	NM_005488.3(TOM1):c.1200C>A (p.Asp400Glu)	TOM1 (D355E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653091	NM_005488.3(TOM1):c.1201G>C (p.Ala401Pro)	TOM1 (A356P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2554767	NM_005488.3(TOM1):c.1222G>A (p.Ala408Thr)	TOM1 (A363T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243905	NM_005488.3(TOM1):c.1223C>T (p.Ala408Val)	TOM1 (A363V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181103	NM_005488.3(TOM1):c.1232T>C (p.Val411Ala)	TOM1 (V366A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2431778	NM_005488.3(TOM1):c.1265A>T (p.Gln422Leu)	TOM1 (Q377L +2 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 85 and autoimmunity	GUncertain significance
Select item 2688164	NM_005488.3(TOM1):c.1284+43G>A	TOM1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687974	NM_005488.3(TOM1):c.1284+86A>G	TOM1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688095	NM_005488.3(TOM1):c.1287T>G (p.Gly429=)	TOM1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 2204970	NM_005488.3(TOM1):c.1367G>A (p.Arg456Gln)	TOM1 (R411Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341376	NM_005488.3(TOM1):c.1382C>T (p.Ser461Phe)	TOM1 (S416F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068225	NM_005488.3(TOM1):c.1407_1415dup (p.Pro472_Ser473insGlyProPro)	TOM1	Duplication (inframe_insertion +1 more)	Immunodeficiency 85 and autoimmunity	GUncertain significance
Select item 2688096	NM_005488.3(TOM1):c.1401G>C (p.Gly467=)	TOM1	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 3181104	NM_005488.3(TOM1):c.1415C>G (p.Pro472Arg)	TOM1 (P427R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181105	NM_005488.3(TOM1):c.1427C>T (p.Ala476Val)	TOM1 (A431V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312703	NM_005488.3(TOM1):c.1430C>T (p.Pro477Leu)	TOM1 (P478L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653092	NM_005488.3(TOM1):c.1455T>C (p.Asp485=)	TOM1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1808823	GRCh37/hg19 22q12.3(chr22:35369903-35763314)x3	HMGXB4, ISX +1 more	Copy number gain	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 686466	GRCh37/hg19 22q12.3(chr22:35645948-35697504)x1	HMGXB4, TOM1	Copy number loss	not provided	GUncertain significance
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	A4GALT, ACO2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	C22orf15, C22orf23 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	SLC5A1, SLC5A4 +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic

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Items: 78