IQCH[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 59379	GRCh38/hg38 15q22.33-23(chr15:67194581-69086285)x1	AAGAB, ANP32A +74 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)	not specified	GUncertain significance
Select item 2388371	NM_001031715.3(IQCH):c.28C>T (p.Pro10Ser)	AAGAB, IQCH (P10S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1235883	NM_001271885.2(AAGAB):c.-255+174G>T	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)	not specified	GLikely benign
Select item 2474318	NM_001031715.3(IQCH):c.125A>G (p.Asp42Gly)	IQCH (D42G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110466	NM_001031715.3(IQCH):c.179A>G (p.His60Arg)	IQCH (H60R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238934	NM_001031715.3(IQCH):c.181A>G (p.Ile61Val)	IQCH (I61V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110473	NM_001031715.3(IQCH):c.274C>T (p.Leu92Phe)	IQCH (L92F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3110474	NM_001031715.3(IQCH):c.367C>T (p.Pro123Ser)	IQCH (P123S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223522	NM_001031715.3(IQCH):c.388A>G (p.Ile130Val)	IQCH (I130V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3286370	NM_001031715.3(IQCH):c.437T>C (p.Val146Ala)	IQCH (V146A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313980	NM_001031715.3(IQCH):c.481C>T (p.Pro161Ser)	IQCH (P161S)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 3110475	NM_001031715.3(IQCH):c.716G>A (p.Gly239Glu)	IQCH (G239E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479024	NM_001031715.3(IQCH):c.725G>A (p.Arg242Lys)	IQCH (R69K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3110476	NM_001031715.3(IQCH):c.820G>T (p.Asp274Tyr)	IQCH (D22Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286368	NM_001031715.3(IQCH):c.821A>G (p.Asp274Gly)	IQCH (D101G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3286372	NM_001031715.3(IQCH):c.910C>G (p.His304Asp)	IQCH (H52D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3110464	NM_001031715.3(IQCH):c.1140G>C (p.Trp380Cys)	IQCH (W128C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286369	NM_001031715.3(IQCH):c.1178G>A (p.Arg393His)	IQCH (R145H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3110465	NM_001031715.3(IQCH):c.1283A>G (p.Glu428Gly)	IQCH (E255G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2227331	NM_001031715.3(IQCH):c.1664T>G (p.Met555Arg)	IQCH (M555R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360470	NM_001031715.3(IQCH):c.1694A>T (p.Lys565Ile)	IQCH (K565I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350818	NM_001031715.3(IQCH):c.1726G>A (p.Val576Ile)	IQCH (V576I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483132	NM_001031715.3(IQCH):c.1762G>A (p.Ala588Thr)	IQCH (A588T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110467	NM_001031715.3(IQCH):c.1817A>G (p.Tyr606Cys)	IQCH (Y606C)	Single nucleotide variant (missense variant +1 more)	not specified	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 3286371	NM_001031715.3(IQCH):c.1841G>A (p.Arg614His)	IQCH (R614H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722494	NM_001031715.3(IQCH):c.1906-6T>G	IQCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3110468	NM_001031715.3(IQCH):c.1955G>A (p.Arg652His)	IQCH (R652H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242793	NM_001031715.3(IQCH):c.1997C>T (p.Thr666Ile)	IQCH (T323I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3110469	NM_001031715.3(IQCH):c.2291A>G (p.Asn764Ser)	IQCH, IQCH-AS1 (N436S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3110470	NM_001031715.3(IQCH):c.2340C>A (p.Ser780Arg)	IQCH, IQCH-AS1 (S452R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3110471	NM_001031715.3(IQCH):c.2393T>G (p.Val798Gly)	IQCH, IQCH-AS1 (V459G +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3110472	NM_001031715.3(IQCH):c.2620C>T (p.Arg874Cys)	IQCH, IQCH-AS1 (R467C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2374558	NM_001031715.3(IQCH):c.2835C>A (p.His945Gln)	IQCH, IQCH-AS1 (H497Q +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	AAGAB, C15orf61 +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	CGNL1, MAPDA +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	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 85