ClinVar for Gene (Select 51804) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350402	NM_017420.5(SIX4):c.1233G>A (p.Leu411=)	SIX4	Single nucleotide variant (synonymous variant)	SIX4-related disorder	GLikely benign
Select item 3318682	NM_017420.5(SIX4):c.855G>T (p.Gln285His)	SIX4 (Q285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318681	NM_017420.5(SIX4):c.154C>A (p.Pro52Thr)	SIX4 (P52T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318680	NM_017420.5(SIX4):c.1955C>T (p.Thr652Ile)	SIX4 (T652I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318679	NM_017420.5(SIX4):c.2332A>G (p.Met778Val)	SIX4 (M778V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162580	NM_017420.5(SIX4):c.979C>A (p.His327Asn)	SIX4 (H327N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162579	NM_017420.5(SIX4):c.844T>A (p.Ser282Thr)	SIX4 (S282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162578	NM_017420.5(SIX4):c.832G>A (p.Asp278Asn)	SIX4 (D278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162577	NM_017420.5(SIX4):c.279G>T (p.Arg93Ser)	LOC130055770, SIX4 (R93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162576	NM_017420.5(SIX4):c.26A>C (p.Gln9Pro)	SIX4 (Q9P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162575	NM_017420.5(SIX4):c.2225C>G (p.Ser742Cys)	SIX4 (S742C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162574	NM_017420.5(SIX4):c.206A>T (p.Glu69Val)	SIX4 (E69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162573	NM_017420.5(SIX4):c.1936C>A (p.Pro646Thr)	SIX4 (P646T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162572	NM_017420.5(SIX4):c.1867A>G (p.Ser623Gly)	SIX4 (S623G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162571	NM_017420.5(SIX4):c.1581T>A (p.Asp527Glu)	SIX4 (D527E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040582	NM_017420.5(SIX4):c.-4A>G	SIX4	Single nucleotide variant (5 prime UTR variant)	SIX4-related disorder	GLikely benign
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2601670	NM_017420.5(SIX4):c.2144T>C (p.Leu715Pro)	SIX4 (L715P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592344	NM_017420.5(SIX4):c.1426G>A (p.Val476Met)	SIX4 (V476M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569287	NM_017420.5(SIX4):c.1799C>T (p.Ser600Leu)	SIX4 (S600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545491	NM_017420.5(SIX4):c.1457T>A (p.Ile486Asn)	SIX4 (I486N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541745	NM_017420.5(SIX4):c.2014G>A (p.Gly672Ser)	SIX4 (G672S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527910	NM_017420.5(SIX4):c.1463A>G (p.Asn488Ser)	SIX4 (N488S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516864	NM_017420.5(SIX4):c.107C>T (p.Ala36Val)	SIX4 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515512	NM_017420.5(SIX4):c.1514T>C (p.Leu505Pro)	SIX4 (L505P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485421	NM_017420.5(SIX4):c.2087T>G (p.Val696Gly)	SIX4 (V696G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469950	NM_017420.5(SIX4):c.1889C>T (p.Pro630Leu)	SIX4 (P630L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463064	NM_017420.5(SIX4):c.773A>G (p.Lys258Arg)	SIX4 (K258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425450	NC_000014.8:g.(?_60976117)_(61447691_?)del	MNAT1, SIX1 +3 more	Deletion	not provided	GUncertain significance
Select item 2402466	NM_017420.5(SIX4):c.2021A>G (p.Asp674Gly)	SIX4 (D674G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400196	NM_017420.5(SIX4):c.1807G>A (p.Gly603Ser)	SIX4 (G603S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394503	NM_017420.5(SIX4):c.98G>A (p.Arg33Gln)	SIX4 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358620	NM_017420.5(SIX4):c.1525C>T (p.Pro509Ser)	SIX4 (P509S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344904	NM_017420.5(SIX4):c.1525C>A (p.Pro509Thr)	SIX4 (P509T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334733	NM_017420.5(SIX4):c.185C>T (p.Ala62Val)	SIX4 (A62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321511	NM_017420.5(SIX4):c.163C>A (p.Pro55Thr)	SIX4 (P55T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316115	NM_017420.5(SIX4):c.232G>A (p.Gly78Arg)	SIX4 (G78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298730	NM_017420.5(SIX4):c.1808G>A (p.Gly603Asp)	SIX4 (G603D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292111	NM_017420.5(SIX4):c.309G>T (p.Gln103His)	LOC130055770, SIX4 (Q103H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284966	NM_017420.5(SIX4):c.1345C>T (p.Pro449Ser)	SIX4 (P449S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250968	NM_017420.5(SIX4):c.1063G>C (p.Val355Leu)	SIX4 (V355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242452	NM_017420.5(SIX4):c.22G>A (p.Gly8Arg)	SIX4 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1341150	GRCh37/hg19 14q23.1(chr14:60958879-61211351)x3	MNAT1, SIX1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 999901	NC_000014.8:g.(?_60976117)_(61191013_?)dup	SIX1, SIX4 +1 more	Duplication	Branchiootic syndrome 3 +1 more	GUncertain significance
Select item 980496	GRCh37/hg19 14q23.1(chr14:60958879-61194753)x3	SIX1, SIX6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 684991	GRCh37/hg19 14q23.1-23.2(chr14:61126208-63517651)x3	HIF1A, HIF1A-AS2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
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 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	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 144205	GRCh38/hg38 14q23.1(chr14:60401009-60861986)x3	C14orf39, LOC110121407 +15 more	Copy number gain	See cases	GUncertain significance
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	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 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 61