4990[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	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 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	LOC132090233, LOC132090234 +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 637953	NM_007374.3(SIX6):c.-227_572+235del	C14orf39, SIX6	Deletion (splice donor variant +1 more)	Microphthalmia +3 more	GPathogenic
Select item 313425	NM_007374.3(SIX6):c.-174C>G	C14orf39, SIX6	Single nucleotide variant (5 prime UTR variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 313426	NM_007374.3(SIX6):c.-161T>C	C14orf39, SIX6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 313427	NM_007374.3(SIX6):c.-149C>T	C14orf39, SIX6	Single nucleotide variant (5 prime UTR variant)	Anophthalmia-microphthalmia syndrome	GLikely benign
Select item 882017	NM_007374.3(SIX6):c.-147T>C	C14orf39, SIX6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 313428	NM_007374.3(SIX6):c.-114G>A	C14orf39, SIX6	Single nucleotide variant (5 prime UTR variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 882018	NM_007374.3(SIX6):c.-64C>T	C14orf39, SIX6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 1518516	NM_007374.3(SIX6):c.10C>A (p.Leu4Met)	C14orf39, SIX6 (L4M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097395	NM_007374.3(SIX6):c.12G>C (p.Leu4=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 882019	NM_007374.3(SIX6):c.18C>A (p.Ile6=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 772058	NM_007374.3(SIX6):c.18C>T (p.Ile6=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 882020	NM_007374.3(SIX6):c.21G>A (p.Leu7=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2580623	NM_007374.3(SIX6):c.34C>A (p.Gln12Lys)	C14orf39, SIX6 (Q12K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178909	NM_007374.3(SIX6):c.65A>T (p.Glu22Val)	C14orf39, SIX6 (E22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863514	NM_007374.3(SIX6):c.75C>A (p.Gly25=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978360	NM_007374.3(SIX6):c.76G>A (p.Asp26Asn)	C14orf39, SIX6 (D26N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171353	NM_007374.3(SIX6):c.91G>C (p.Gly31Arg)	C14orf39, SIX6 (G31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 313429	NM_007374.3(SIX6):c.96C>T (p.Arg32=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 2582921	NM_007374.3(SIX6):c.105G>A (p.Trp35Ter)	C14orf39, SIX6 (W35*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 189378	NM_007374.3(SIX6):c.110T>C (p.Leu37Pro)	C14orf39, SIX6 (L37P)	Single nucleotide variant (missense variant)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	GPathogenic
Select item 2730051	NM_007374.3(SIX6):c.114C>T (p.Pro38=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085476	NM_007374.3(SIX6):c.121C>T (p.Pro41Ser)	C14orf39, SIX6 (P41S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648095	NM_007374.3(SIX6):c.123T>C (p.Pro41=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548062	NM_007374.3(SIX6):c.124G>A (p.Ala42Thr)	C14orf39, SIX6 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2143349	NM_007374.3(SIX6):c.135G>C (p.Glu45Asp)	C14orf39, SIX6 (E45D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2119810	NM_007374.3(SIX6):c.145A>G (p.Lys49Glu)	C14orf39, SIX6 (K49E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480461	NM_007374.3(SIX6):c.155C>G (p.Ser52Trp)	C14orf39, SIX6 (S52W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1581643	NM_007374.3(SIX6):c.162A>C (p.Leu54=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540993	NM_007374.3(SIX6):c.171A>G (p.Arg57=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771259	NM_007374.3(SIX6):c.174C>T (p.Ala58=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142265	NM_007374.3(SIX6):c.185T>G (p.Phe62Cys)	C14orf39, SIX6 (F62C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046768	NM_007374.3(SIX6):c.216T>A (p.His72Gln)	C14orf39, SIX6 (H72Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648580	NM_007374.3(SIX6):c.216T>C (p.His72=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653641	NM_007374.3(SIX6):c.243G>A (p.Lys81=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117133	NM_007374.3(SIX6):c.257_261del (p.Lys86fs)	C14orf39, SIX6 (K86fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1923574	NM_007374.3(SIX6):c.265G>A (p.Ala89Thr)	C14orf39, SIX6 (A89T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1909747	NM_007374.3(SIX6):c.267G>A (p.Ala89=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729433	NM_007374.3(SIX6):c.279A>G (p.Glu93=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711420	NM_007374.3(SIX6):c.294G>A (p.Glu98=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006087	NM_007374.3(SIX6):c.308G>T (p.Arg103Leu)	C14orf39, SIX6 (R103L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2336886	NM_007374.3(SIX6):c.314G>C (p.Arg105Thr)	C14orf39, SIX6 (R105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2794468	NM_007374.3(SIX6):c.327T>C (p.Pro109=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786995	NM_007374.3(SIX6):c.333C>T (p.Asp111=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979496	NM_007374.3(SIX6):c.340C>T (p.Arg114Ter)	C14orf39, SIX6 (R114*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3369851	NM_007374.3(SIX6):c.359dup (p.Leu121fs)	C14orf39, SIX6 (L121fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2155056	NM_007374.3(SIX6):c.369C>T (p.Arg123=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949417	NM_007374.3(SIX6):c.376T>C (p.Trp126Arg)	C14orf39, SIX6 (W126R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690892	NM_007374.3(SIX6):c.380del (p.Asp127fs)	C14orf39, SIX6 (D127fs)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 445796	NM_007374.3(SIX6):c.385G>A (p.Glu129Lys)	C14orf39, SIX6 (E129K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 883182	NM_007374.3(SIX6):c.389A>G (p.Gln130Arg)	C14orf39, SIX6 (Q130R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2038007	NM_007374.3(SIX6):c.407A>C (p.Lys136Thr)	C14orf39, SIX6 (K136T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474246	NM_007374.3(SIX6):c.410A>C (p.Glu137Ala)	C14orf39, SIX6 (E137A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260163	NM_007374.3(SIX6):c.421C>A (p.His141Asn)	C14orf39, SIX6 (H141N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2814100	NM_007374.3(SIX6):c.427C>T (p.Leu143=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006746	NM_007374.3(SIX6):c.432C>T (p.Arg144=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154092	NM_007374.3(SIX6):c.435G>A (p.Glu145=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2254619	NM_007374.3(SIX6):c.443T>G (p.Leu148Arg)	C14orf39, SIX6 (L148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1495929	NM_007374.3(SIX6):c.446A>G (p.Gln149Arg)	C14orf39, SIX6 (Q149R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492575	NM_007374.3(SIX6):c.473A>C (p.Lys158Thr)	C14orf39, SIX6 (K158T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2621506	NM_007374.3(SIX6):c.475C>A (p.Arg159Ser)	C14orf39, SIX6 (R159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1999382	NM_007374.3(SIX6):c.476G>A (p.Arg159His)	C14orf39, SIX6 (R159H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 4436	NM_007374.3(SIX6):c.493A>G (p.Thr165Ala)	C14orf39, SIX6 (T165A)	Single nucleotide variant (missense variant)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	GUncertain significance
Select item 3255200	NM_007374.3(SIX6):c.496G>C (p.Gly166Arg)	C14orf39, SIX6 (G166R)	Single nucleotide variant (missense variant)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	GUncertain significance
Select item 2080389	NM_007374.3(SIX6):c.503C>T (p.Thr168Ile)	C14orf39, SIX6 (T168I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 753945	NM_007374.3(SIX6):c.507T>C (p.Pro169=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984759	NM_007374.3(SIX6):c.515T>C (p.Val172Ala)	C14orf39, SIX6 (V172A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007300	NM_007374.3(SIX6):c.521A>G (p.Asn174Ser)	C14orf39, SIX6 (N174S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189377	NM_007374.3(SIX6):c.532_536del (p.Asn178fs)	C14orf39, SIX6 (N178fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3253264	NM_007374.3(SIX6):c.533A>C (p.Asn178Thr)	C14orf39, SIX6 (N178T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 637058	NM_007374.3(SIX6):c.547G>C (p.Asp183His)	C14orf39, SIX6 (D183H)	Single nucleotide variant (missense variant)	Nystagmus +3 more	GPathogenic
Select item 870595	NM_007374.3(SIX6):c.549C>G (p.Asp183Glu)	C14orf39, SIX6 (D183E)	Single nucleotide variant (missense variant)	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	GLikely pathogenic
Select item 2821962	NM_007374.3(SIX6):c.572+8C>T	C14orf39, SIX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868886	NM_007374.3(SIX6):c.572+10T>C	C14orf39, SIX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170602	NM_007374.3(SIX6):c.572+13A>G	C14orf39, SIX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 313430	NM_007374.3(SIX6):c.572+15G>A	C14orf39, SIX6	Single nucleotide variant (intron variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1296515	NM_007374.3(SIX6):c.573-184G>A	C14orf39, SIX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1612614	NM_007374.3(SIX6):c.573-10T>C	C14orf39, SIX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 313431	NM_007374.3(SIX6):c.573-6C>G	C14orf39, SIX6	Single nucleotide variant (intron variant)	Anophthalmia-microphthalmia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2895297	NM_007374.3(SIX6):c.573-5C>G	C14orf39, SIX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1425830	NM_007374.3(SIX6):c.579G>C (p.Gln193His)	C14orf39, SIX6 (Q193H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190882	NM_007374.3(SIX6):c.591G>C (p.Leu197=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015045	NM_007374.3(SIX6):c.603C>T (p.Ser201=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 313432	NM_007374.3(SIX6):c.607C>T (p.Arg203Trp)	C14orf39, SIX6 (R203W)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome	GUncertain significance
Select item 1962049	NM_007374.3(SIX6):c.608G>A (p.Arg203Gln)	C14orf39, SIX6 (R203Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978086	NM_007374.3(SIX6):c.613del (p.Leu205fs)	C14orf39, SIX6 (L205fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 522355	NM_007374.3(SIX6):c.614T>G (p.Leu205Arg)	C14orf39, SIX6 (L205R)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2073523	NM_007374.3(SIX6):c.616C>G (p.Arg206Gly)	C14orf39, SIX6 (R206G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917425	NM_007374.3(SIX6):c.621G>A (p.Ala207=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956412	NM_007374.3(SIX6):c.624G>A (p.Glu208=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111909	NM_007374.3(SIX6):c.627C>T (p.Gly209=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 883964	NM_007374.3(SIX6):c.635C>T (p.Thr212Met)	C14orf39, SIX6 (T212M)	Single nucleotide variant (missense variant)	Anophthalmia-microphthalmia syndrome +1 more	GUncertain significance
Select item 2087606	NM_007374.3(SIX6):c.636G>A (p.Thr212=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 313433	NM_007374.3(SIX6):c.636G>C (p.Thr212=)	C14orf39, SIX6	Single nucleotide variant (synonymous variant)	Anophthalmia-microphthalmia syndrome +1 more	GConflicting classifications of pathogenicity

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