6495[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	AKAP5, C14orf39 +264 more	Copy number loss	See cases	GPathogenic
Select item 144205	GRCh38/hg38 14q23.1(chr14:60401009-60861986)x3	C14orf39, LOC110121407 +15 more	Copy number gain	See cases	GUncertain significance
Select item 2644270	NC_000014.9:g.60641729C>G	SIX1	Single nucleotide variant	not provided	GBenign
Select item 2644271	NC_000014.9:g.60642099A>C	SIX1	Single nucleotide variant	not provided	GBenign
Select item 313441	NM_005982.4(SIX1):c.*1571T>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 313442	NM_005982.4(SIX1):c.*1496C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313443	NM_005982.4(SIX1):c.*1268AT[1]	SIX1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 882088	NM_005982.4(SIX1):c.*1251A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 882089	NM_005982.4(SIX1):c.*1232T>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 882090	NM_005982.4(SIX1):c.*1080A>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313444	NM_005982.4(SIX1):c.*1079T>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313445	NM_005982.4(SIX1):c.*1044G>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313446	NM_005982.4(SIX1):c.*1008del	SIX1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 313447	NM_005982.4(SIX1):c.*1001T>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313448	NM_005982.4(SIX1):c.*883CTAGTTT[1]	SIX1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 883235	NM_005982.4(SIX1):c.*858C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 313449	NM_005982.4(SIX1):c.*767A>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely benign
Select item 884035	NM_005982.4(SIX1):c.*766T>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 313451	NM_005982.4(SIX1):c.765_766del	SIX1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 313450	NM_005982.4(SIX1):c.*766del	SIX1	Deletion (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +1 more	GBenign
Select item 313452	NM_005982.4(SIX1):c.*755T>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313453	NM_005982.4(SIX1):c.*736T>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 880739	NM_005982.4(SIX1):c.*688C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 313454	NM_005982.4(SIX1):c.*602G>C	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313455	NM_005982.4(SIX1):c.578_581del	SIX1	Deletion (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 313456	NM_005982.4(SIX1):c.*443A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign/Likely benign
Select item 313457	NM_005982.4(SIX1):c.*404A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313458	NM_005982.4(SIX1):c.*371A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313459	NM_005982.4(SIX1):c.*334C>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GBenign
Select item 313460	NM_005982.4(SIX1):c.*297T>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	GBenign/Likely benign
Select item 313461	NM_005982.4(SIX1):c.*268CAAA[2]	SIX1	Microsatellite (3 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GUncertain significance
Select item 883288	NM_005982.4(SIX1):c.*266C>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1188527	NM_005982.4(SIX1):c.264_265del	SIX1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 313462	NM_005982.4(SIX1):c.*265del	SIX1	Deletion (3 prime UTR variant)	Branchiootorenal Spectrum Disorders +2 more	GBenign
Select item 883289	NM_005982.4(SIX1):c.*249A>G	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313463	NM_005982.4(SIX1):c.*161C>A	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 883290	NM_005982.4(SIX1):c.*140C>T	SIX1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1583454	NM_005982.4(SIX1):c.854A>G (p.Ter285=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2921458	NM_005982.4(SIX1):c.852C>T (p.Ser284=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2931495	NM_005982.4(SIX1):c.849G>A (p.Gly283=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely benign
Select item 2178593	NM_005982.4(SIX1):c.847G>A (p.Gly283Arg)	SIX1 (G283R)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 1201522	NM_005982.4(SIX1):c.838G>A (p.Val280Met)	SIX1 (V280M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 313464	NM_005982.4(SIX1):c.822C>T (p.Pro274=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	GUncertain significance
Select item 1802105	NM_005982.4(SIX1):c.817_819del (p.Gly273del)	SIX1 (G273del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2953634	NM_005982.4(SIX1):c.816dup (p.Gly273fs)	SIX1 (G273fs)	Duplication (frameshift variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 751952	NM_005982.4(SIX1):c.816C>T (p.Leu272=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	GLikely benign
Select item 1368628	NM_005982.4(SIX1):c.811_812del (p.Leu271fs)	SIX1 (L271fs)	Microsatellite (frameshift variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 2053691	NM_005982.4(SIX1):c.811C>T (p.Leu271=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 2156587	NM_005982.4(SIX1):c.775G>T (p.Gly259Cys)	SIX1 (G259C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 740845	NM_005982.4(SIX1):c.756A>C (p.Thr252=)	SIX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2270901	NM_005982.4(SIX1):c.753A>C (p.Leu251Phe)	SIX1 (L251F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 884094	NM_005982.4(SIX1):c.746C>T (p.Pro249Leu)	SIX1 (P249L)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +3 more	GConflicting classifications of pathogenicity
Select item 517597	NM_005982.4(SIX1):c.746C>A (p.Pro249Gln)	SIX1 (P249Q)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +3 more	GBenign/Likely benign
Select item 3068253	NM_005982.4(SIX1):c.733A>G (p.Asn245Asp)	SIX1 (N245D)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3	GLikely pathogenic
Select item 2544621	NM_005982.4(SIX1):c.724A>G (p.Arg242Gly)	SIX1 (R242G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2935166	NM_005982.4(SIX1):c.722C>A (p.Ala241Asp)	SIX1 (A241D)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1110577	NM_005982.4(SIX1):c.720C>T (p.His240=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GLikely benign
Select item 2935182	NM_005982.4(SIX1):c.713T>A (p.Met238Lys)	SIX1 (M238K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1308525	NM_005982.4(SIX1):c.713T>G (p.Met238Arg)	SIX1 (M238R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689601	NM_005982.4(SIX1):c.705G>T (p.Gln235His)	SIX1 (Q235H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23	GLikely benign
Select item 2024150	NM_005982.4(SIX1):c.696T>G (p.Leu232=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 493144	NM_005982.4(SIX1):c.690G>C (p.Ser230=)	SIX1	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 23 +2 more	GConflicting classifications of pathogenicity
Select item 2164655	NM_005982.4(SIX1):c.689C>T (p.Ser230Leu)	SIX1 (S230L)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 884095	NM_005982.4(SIX1):c.681C>A (p.Asp227Glu)	SIX1 (D227E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 633689	NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr)	SIX1 (D227Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 466173	NM_005982.4(SIX1):c.644G>T (p.Ser215Ile)	SIX1 (S215I)	Single nucleotide variant (missense variant)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 1030044	NM_005982.4(SIX1):c.620A>C (p.Glu207Ala)	SIX1 (E207A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 1331163	NM_005982.4(SIX1):c.615T>G (p.Pro205=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +4 more	GBenign/Likely benign
Select item 2937288	NM_005982.4(SIX1):c.609C>T (p.Leu203=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1723302	NM_005982.4(SIX1):c.597G>A (p.Lys199=)	SIX1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1175855	NM_005982.4(SIX1):c.597G>C (p.Lys199Asn)	SIX1 (K199N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2937741	NM_005982.4(SIX1):c.583TCC[2] (p.Ser197del)	SIX1 (S197del)	Microsatellite (inframe_deletion)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 313465	NM_005982.4(SIX1):c.578A>T (p.Asn193Ile)	SIX1 (N193I)	Single nucleotide variant (missense variant)	SIX1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2035416	NM_005982.4(SIX1):c.570C>G (p.Thr190=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1306683	NM_005982.4(SIX1):c.568A>G (p.Thr190Ala)	SIX1 (T190A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301683	NM_005982.4(SIX1):c.561-13C>T	SIX1	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 23	GLikely benign
Select item 2168162	NM_005982.4(SIX1):c.561-19G>A	SIX1	Single nucleotide variant (intron variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1204920	NM_005982.4(SIX1):c.561-21G>A	SIX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259369	NM_005982.4(SIX1):c.561-33_561-31del	SIX1	Deletion (intron variant)	not provided	GBenign
Select item 1229992	NM_005982.4(SIX1):c.561-31del	SIX1	Deletion (intron variant)	not provided	GBenign
Select item 1195094	NM_005982.4(SIX1):c.561-34_561-31del	SIX1	Deletion (intron variant)	Branchiootic syndrome 3 +2 more	GBenign/Likely benign
Select item 1183779	NM_005982.4(SIX1):c.561-32_561-31del	SIX1	Deletion (intron variant)	not provided	GBenign
Select item 1212998	NM_005982.4(SIX1):c.560+174G>C	SIX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201203	NM_005982.4(SIX1):c.560+25C>G	SIX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 805458	NM_005982.4(SIX1):c.560+7G>C	SIX1	Single nucleotide variant (intron variant)	Branchiootic syndrome 3 +2 more	GLikely benign
Select item 189222	NM_005982.4(SIX1):c.560+1G>C	SIX1	Single nucleotide variant (splice donor variant)	Branchiootic syndrome 3	GLikely pathogenic
Select item 1311450	NM_005982.4(SIX1):c.559A>G (p.Arg187Gly)	SIX1 (R187G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2947657	NM_005982.4(SIX1):c.550G>A (p.Ala184Thr)	SIX1 (A184T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 23 +1 more	GUncertain significance
Select item 418491	NM_005982.4(SIX1):c.548A>G (p.Glu183Gly)	SIX1 (E183G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177434	NM_005982.4(SIX1):c.543C>G (p.Ala181=)	SIX1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 3 +1 more	GLikely benign
Select item 1691650	NM_005982.4(SIX1):c.533G>C (p.Arg178Thr)	MIR9718, SIX1 (R178T)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1306414	NM_005982.4(SIX1):c.531_532del (p.Asp179fs)	MIR9718, SIX1 (D179fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2924817	NM_005982.4(SIX1):c.528G>T (p.Arg176Ser)	MIR9718, SIX1 (R176S)	Single nucleotide variant (non-coding transcript variant +1 more)	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 1710420	NM_005982.4(SIX1):c.527G>A (p.Arg176Lys)	MIR9718, SIX1 (R176K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1310217	NM_005982.4(SIX1):c.524G>C (p.Arg175Pro)	MIR9718, SIX1 (R175P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

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