IQCH[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +73 more	Copy number loss	See cases	GPathogenic
Select item 726116	NM_001031715.3(IQCH):c.21C>T (p.Asn7=)	AAGAB, IQCH	Single nucleotide variant (synonymous variant +3 more)	not provided	GBenign
Select item 2338594	NM_001031715.3(IQCH):c.24C>G (p.His8Gln)	AAGAB, IQCH (H8Q)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2388371	NM_001031715.3(IQCH):c.28C>T (p.Pro10Ser)	AAGAB, IQCH (P10S)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1235883	NM_001031715.3(IQCH):c.51+16C>A	AAGAB, IQCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2291334	NM_001031715.3(IQCH):c.112G>A (p.Gly38Arg)	IQCH (G38R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2474318	NM_001031715.3(IQCH):c.125A>G (p.Asp42Gly)	IQCH (D42G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2238934	NM_001031715.3(IQCH):c.181A>G (p.Ile61Val)	IQCH (I61V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223522	NM_001031715.3(IQCH):c.388A>G (p.Ile130Val)	IQCH (I130V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2313980	NM_001031715.3(IQCH):c.481C>T (p.Pro161Ser)	IQCH (P161S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327584	NM_001031715.3(IQCH):c.554G>A (p.Arg185Lys)	IQCH (R12K +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2243561	NM_001031715.3(IQCH):c.619C>T (p.Arg207Cys)	IQCH (R207C +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2597611	NM_001031715.3(IQCH):c.631A>G (p.Thr211Ala)	IQCH (T211A +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2479024	NM_001031715.3(IQCH):c.725G>A (p.Arg242Lys)	IQCH (R69K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2613257	NM_001031715.3(IQCH):c.767A>G (p.Lys256Arg)	IQCH (K256R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615366	NM_001031715.3(IQCH):c.773C>T (p.Pro258Leu)	IQCH (P6L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330952	NM_001031715.3(IQCH):c.879A>T (p.Leu293Phe)	IQCH (L293F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 722880	NM_001031715.3(IQCH):c.915C>T (p.Val305=)	IQCH	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2549594	NM_001031715.3(IQCH):c.1010T>G (p.Leu337Arg)	IQCH (L164R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278840	NM_001031715.3(IQCH):c.1010T>C (p.Leu337Pro)	IQCH (L337P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356626	NM_001031715.3(IQCH):c.1018T>G (p.Tyr340Asp)	IQCH (Y92D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520397	NM_001031715.3(IQCH):c.1184A>G (p.Gln395Arg)	IQCH (Q222R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326495	NM_001031715.3(IQCH):c.1453T>G (p.Leu485Val)	IQCH (L237V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 727748	NM_001031715.3(IQCH):c.1496T>C (p.Met499Thr)	IQCH (M326T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2223009	NM_001031715.3(IQCH):c.1504G>A (p.Glu502Lys)	IQCH (E329K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227331	NM_001031715.3(IQCH):c.1664T>G (p.Met555Arg)	IQCH (M555R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360470	NM_001031715.3(IQCH):c.1694A>T (p.Lys565Ile)	IQCH (K565I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350818	NM_001031715.3(IQCH):c.1726G>A (p.Val576Ile)	IQCH (V576I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483132	NM_001031715.3(IQCH):c.1762G>A (p.Ala588Thr)	IQCH (A588T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2645482	NM_001031715.3(IQCH):c.1824C>T (p.Thr608=)	IQCH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 722494	NM_001031715.3(IQCH):c.1906-6T>G	IQCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2242793	NM_001031715.3(IQCH):c.1997C>T (p.Thr666Ile)	IQCH (T323I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2645483	NM_001031715.3(IQCH):c.2020T>C (p.Tyr674His)	IQCH (Y331H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2340877	NM_001031715.3(IQCH):c.2183C>T (p.Thr728Met)	IQCH, IQCH-AS1 (T400M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373851	NM_001031715.3(IQCH):c.2224G>A (p.Val742Met)	IQCH, IQCH-AS1 (V335M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2596479	NM_001031715.3(IQCH):c.2260A>C (p.Asn754His)	IQCH, IQCH-AS1 (N411H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351415	NM_001031715.3(IQCH):c.2293G>A (p.Gly765Arg)	IQCH, IQCH-AS1 (G426R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347315	NM_001031715.3(IQCH):c.2305G>A (p.Val769Met)	IQCH, IQCH-AS1 (V426M +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602193	NM_001031715.3(IQCH):c.2426C>G (p.Ala809Gly)	IQCH, IQCH-AS1 (A466G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610403	NM_001031715.3(IQCH):c.2456T>G (p.Phe819Cys)	IQCH, IQCH-AS1 (F480C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291120	NM_001031715.3(IQCH):c.2467C>G (p.Leu823Val)	IQCH, IQCH-AS1 (L495V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267203	NM_001031715.3(IQCH):c.2660G>A (p.Ser887Asn)	IQCH, IQCH-AS1 (S548N +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2377643	NM_001031715.3(IQCH):c.2679G>A (p.Met893Ile)	IQCH, IQCH-AS1 (M629I +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2410071	NM_001031715.3(IQCH):c.2693G>A (p.Arg898His)	IQCH, IQCH-AS1 (R555H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2412104	NM_001031715.3(IQCH):c.2720G>A (p.Arg907Lys)	IQCH, IQCH-AS1 (R643K +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2367677	NM_001031715.3(IQCH):c.2727C>G (p.Ser909Arg)	IQCH, IQCH-AS1 (S570R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2374558	NM_001031715.3(IQCH):c.2835C>A (p.His945Gln)	IQCH-AS1, IQCH (H497Q +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2261904	NM_001031715.3(IQCH):c.3065T>C (p.Leu1022Pro)	IQCH, IQCH-AS1 (L1022P +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	CLN6, CORO2B +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1069866	NC_000015.9:g.(?_67546897)_(67571850_?)del	AAGAB, IQCH	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980530	GRCh37/hg19 15q23(chr15:67533571-67585461)x1	AAGAB, IQCH	Copy number loss	not provided	GLikely pathogenic
Select item 815731	GRCh37/hg19 15q22.33-23(chr15:67382183-67629136)x2	AAGAB, IQCH +1 more	Copy number gain	not provided	GUncertain significance
Select item 815730	GRCh37/hg19 15q22.31-23(chr15:67172682-68053940)x1	AAGAB, C15orf61 +3 more	Copy number loss	not provided	GPathogenic
Select item 686983	GRCh37/hg19 15q23(chr15:67533543-67577560)x1	AAGAB, IQCH	Copy number loss	not provided	GUncertain significance
Select item 685339	GRCh37/hg19 15q22.33-23(chr15:67369118-70481307)x1	AAGAB, ANP32A +19 more	Copy number loss	not provided	GPathogenic
Select item 624539	GRCh37/hg19 15q23(chr15:67529106-67665817)x1	AAGAB, IQCH	Copy number loss	not provided	GUncertain significance
Select item 564212	GRCh37/hg19 15q22.31-23(chr15:66861081-69213575)x1	AAGAB, ANP32A +13 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 67