10984[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 1879153	NM_000218.3(KCNQ1):c.1393+19784dup	KCNQ1, KCNQ1OT1	Duplication (intron variant)	not provided	GBenign
Select item 2641363	NM_000218.3(KCNQ1):c.1393+20618A>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1701154	NM_000218.3(KCNQ1):c.1393+20645G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879154	NM_000218.3(KCNQ1):c.1393+20735_1393+20738del	KCNQ1, KCNQ1OT1	Microsatellite (intron variant)	not provided	GBenign
Select item 1711272	NM_000218.3(KCNQ1):c.1393+21257T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641364	NM_000218.3(KCNQ1):c.1393+21480C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 304221	NM_000218.3(KCNQ1):c.1393+21526C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +5 more	GLikely benign
Select item 304222	NM_000218.3(KCNQ1):c.1393+21538C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Congenital long QT syndrome +5 more	GLikely benign
Select item 3040837	NM_000218.3(KCNQ1):c.1393+21582A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3029140	NM_000218.3(KCNQ1):c.1393+21709T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 2641365	NM_000218.3(KCNQ1):c.1393+21883_1393+21891del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2582883	NM_000218.3(KCNQ1):c.1393+21881_1393+21891del	KCNQ1, KCNQ1OT1	Deletion (intron variant)	not provided	GBenign
Select item 3250908	NM_000218.3(KCNQ1):c.1393+21918C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1879155	NM_000218.3(KCNQ1):c.1393+22149A>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2498481	NM_000218.3(KCNQ1):c.1393+22394C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694588	NM_000218.3(KCNQ1):c.1393+22427G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2641366	NM_000218.3(KCNQ1):c.1393+22468C>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 304223	NM_000218.3(KCNQ1):c.1393+22646C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +5 more	GLikely benign
Select item 3250903	NM_000218.3(KCNQ1):c.1393+23060del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2641367	NM_000218.3(KCNQ1):c.1393+23352T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3055078	NM_000218.3(KCNQ1):c.1393+23369del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3059785	NM_000218.3(KCNQ1):c.1393+23631G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GBenign
Select item 2641368	NM_000218.3(KCNQ1):c.1393+23648_1393+23651del	KCNQ1, KCNQ1OT1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3026400	NM_000218.3(KCNQ1):c.1393+23645C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3257254	NM_000218.3(KCNQ1):c.1393+23728T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2641369	NM_000218.3(KCNQ1):c.1393+23747A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2641370	NM_000218.3(KCNQ1):c.1393+24102T>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1879156	NM_000218.3(KCNQ1):c.1393+24215A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3029960	NM_000218.3(KCNQ1):c.1393+24310C>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 1711273	NM_000218.3(KCNQ1):c.1393+24489C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879157	NM_000218.3(KCNQ1):c.1393+24554C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3054359	NM_000218.3(KCNQ1):c.1393+24568A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3026383	NM_000218.3(KCNQ1):c.1393+24587A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1694589	NM_000218.3(KCNQ1):c.1393+24722T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3036626	NM_000218.3(KCNQ1):c.1393+24883C>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 2578628	NM_000218.3(KCNQ1):c.1393+25307G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879158	NM_000218.3(KCNQ1):c.1393+25378A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578629	NM_000218.3(KCNQ1):c.1393+25398C>T	KCNQ1OT1, KCNQ1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3026384	NM_000218.3(KCNQ1):c.1393+25752G>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2672440	NM_000218.3(KCNQ1):c.1393+25830A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3029562	NM_000218.3(KCNQ1):c.1393+25879A>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 2641371	NM_000218.3(KCNQ1):c.1393+26185T>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2641372	NM_000218.3(KCNQ1):c.1393+27038_1393+27039del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3026385	NM_000218.3(KCNQ1):c.1393+27171A>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2641373	NM_000218.3(KCNQ1):c.1393+27282A>C	KCNQ1OT1, KCNQ1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1879159	NM_000218.3(KCNQ1):c.1393+27338G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3389306	NM_000218.3(KCNQ1):c.1393+27377_1393+27378dup	KCNQ1, KCNQ1OT1	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3026374	NM_000218.3(KCNQ1):c.1393+27378del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1694590	NM_000218.3(KCNQ1):c.1393+27384G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3356598	NM_000218.3(KCNQ1):c.1393+27598C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 3257238	NM_000218.3(KCNQ1):c.1393+27615G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2641374	NM_000218.3(KCNQ1):c.1393+27732C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 304224	NM_000218.3(KCNQ1):c.1393+28111T>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +5 more	GBenign
Select item 2582884	NM_000218.3(KCNQ1):c.1393+28521A>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694591	NM_000218.3(KCNQ1):c.1393+28622C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2641375	NM_000218.3(KCNQ1):c.1393+28822C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3250901	NM_000218.3(KCNQ1):c.1393+29127G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2641376	NM_000218.3(KCNQ1):c.1393+29271C>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1879160	NM_000218.3(KCNQ1):c.1393+29461dup	KCNQ1, KCNQ1OT1	Duplication (intron variant)	not provided	GBenign
Select item 2641377	NM_000218.3(KCNQ1):c.1393+29634T>C	KCNQ1OT1, KCNQ1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1879161	NM_000218.3(KCNQ1):c.1393+29738G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879162	NM_000218.3(KCNQ1):c.1393+29750T>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3389310	NM_000218.3(KCNQ1):c.1393+29804T>A	KCNQ1OT1, KCNQ1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1879163	NM_000218.3(KCNQ1):c.1393+29814G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2641378	NM_000218.3(KCNQ1):c.1393+30175C>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1879164	NM_000218.3(KCNQ1):c.1393+30231C>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879165	NM_000218.3(KCNQ1):c.1393+30256G>C	KCNQ1OT1, KCNQ1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2641379	NM_000218.3(KCNQ1):c.1393+30303T>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1694592	NM_000218.3(KCNQ1):c.1393+30318T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2570783	NM_000218.3(KCNQ1):c.1393+30401G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3250974	NM_000218.3(KCNQ1):c.1393+30898T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3389311	NM_000218.3(KCNQ1):c.1393+30955G>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1879166	NM_000218.3(KCNQ1):c.1393+31012T>C	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2641380	NM_000218.3(KCNQ1):c.1393+31020A>T	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3026409	NM_000218.3(KCNQ1):c.1393+31139G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2570784	NM_000218.3(KCNQ1):c.1393+31188T>G	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641381	NM_000218.3(KCNQ1):c.1393+31346TA[7]	KCNQ1, KCNQ1OT1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1879167	NM_000218.3(KCNQ1):c.1393+31358_1393+31359insATT	KCNQ1, KCNQ1OT1	Insertion (intron variant)	not provided	GBenign
Select item 1694593	NM_000218.3(KCNQ1):c.1393+31357del	KCNQ1, KCNQ1OT1	Deletion (intron variant)	not provided	GBenign
Select item 3390342	NM_000218.3(KCNQ1):c.1393+31368_1393+31369del	KCNQ1OT1, KCNQ1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2641382	NM_000218.3(KCNQ1):c.1393+31369del	KCNQ1, KCNQ1OT1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3037665	NM_000218.3(KCNQ1):c.1393+31359_1393+31360insA	KCNQ1, KCNQ1OT1	Insertion (non-coding transcript variant +1 more)	KCNQ1-related disorder	GLikely benign
Select item 304225	NM_000218.3(KCNQ1):c.1393+31361T>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	Familial atrial fibrillation +5 more	GBenign
Select item 2641383	NM_000218.3(KCNQ1):c.1393+31362T>A	KCNQ1OT1, KCNQ1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2641384	NM_000218.3(KCNQ1):c.1393+31363T>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2641385	NM_000218.3(KCNQ1):c.1393+31365T>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1711274	NM_000218.3(KCNQ1):c.1393+31367T>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1701155	NM_000218.3(KCNQ1):c.1393+31864G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1694594	NM_000218.3(KCNQ1):c.1393+32039G>A	KCNQ1, KCNQ1OT1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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