6496[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146326	GRCh38/hg38 2p21(chr2:43762375-44960289)x3	ABCG5, ABCG8 +32 more	Copy number gain	See cases	GUncertain significance
Select item 148104	GRCh38/hg38 2p21(chr2:44868615-44944763)x1	LINC01833, LOC110120598 +3 more	Copy number loss	See cases	GBenign
Select item 148499	GRCh38/hg38 2p21(chr2:44893684-45016061)x3	LINC01833, LOC129933631 +5 more	Copy number gain	See cases	GUncertain significance
Select item 154309	GRCh38/hg38 2p21(chr2:44941697-44942175)x3	SIX3, SIX3-AS1	Copy number gain	See cases	GBenign
Select item 152974	GRCh38/hg38 2p21(chr2:44941697-44942746)x3	SIX3, SIX3-AS1	Copy number gain	See cases	GBenign
Select item 1197315	NM_005413.4(SIX3):c.-323C>T	SIX3, SIX3-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1243127	NM_005413.4(SIX3):c.-292CCTCTC[2]	SIX3, SIX3-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 193313	NM_005413.4(SIX3):c.-2C>G	SIX3	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 504413	NM_005413.4(SIX3):c.1A>G (p.Met1Val)	SIX3 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2103799	NM_005413.4(SIX3):c.6A>C (p.Val2=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 1399098	NM_005413.4(SIX3):c.19C>A (p.Leu7Ile)	SIX3 (L7I)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2729808	NM_005413.4(SIX3):c.20del (p.Leu7fs)	SIX3 (L7fs)	Deletion (frameshift variant)	Holoprosencephaly 2	GPathogenic
Select item 1318865	NM_005413.4(SIX3):c.27_28del (p.Tyr10fs)	SIX3 (Y10fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2011365	NM_005413.4(SIX3):c.39C>T (p.His13=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 1353950	NM_005413.4(SIX3):c.41T>G (p.Phe14Cys)	SIX3 (F14C)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 772996	NM_005413.4(SIX3):c.42C>T (p.Phe14=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751717	NM_005413.4(SIX3):c.43T>C (p.Leu15=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738249	NM_005413.4(SIX3):c.48G>A (p.Leu16=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 566334	NM_005413.4(SIX3):c.52A>T (p.Asn18Tyr)	SIX3 (N18Y)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 1990303	NM_005413.4(SIX3):c.57C>T (p.Phe19=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 707261	NM_005413.4(SIX3):c.58G>T (p.Ala20Ser)	SIX3 (A20S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2887093	NM_005413.4(SIX3):c.60C>A (p.Ala20=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 2604087	NM_005413.4(SIX3):c.61G>T (p.Asp21Tyr)	SIX3 (D21Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184546	NM_005413.4(SIX3):c.61G>A (p.Asp21Asn)	SIX3 (D21N)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 1445077	NM_005413.4(SIX3):c.79A>G (p.Ile27Val)	SIX3 (I27V)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2071436	NM_005413.4(SIX3):c.86T>C (p.Leu29Pro)	SIX3 (L29P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 65505	NM_005413.4(SIX3):c.90G>T (p.Ala30=)	SIX3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1481593	NM_005413.4(SIX3):c.92G>C (p.Ser31Thr)	SIX3 (S31T)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 1346455	NM_005413.4(SIX3):c.126_173del (p.Gly43_Gly58del)	SIX3	Deletion (inframe_deletion)	Holoprosencephaly 2	GUncertain significance
Select item 697780	NM_005413.4(SIX3):c.96C>T (p.Ser32=)	SIX3	Single nucleotide variant (synonymous variant)	SIX3-related condition +1 more	GLikely benign
Select item 3029962	NM_005413.4(SIX3):c.99C>T (p.Gly33=)	SIX3	Single nucleotide variant (synonymous variant)	SIX3-related condition	GLikely benign
Select item 593576	NM_005413.4(SIX3):c.105G>T (p.Gly35=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2 +1 more	GConflicting classifications of pathogenicity
Select item 1378258	NM_005413.4(SIX3):c.111_128dup (p.Gly42_Gly47dup)	SIX3	Duplication (inframe_insertion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 757297	NM_005413.4(SIX3):c.108C>T (p.Asn36=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 30381	NM_005413.4(SIX3):c.109G>T (p.Gly37Cys)	SIX3 (G37C)	Single nucleotide variant (missense variant)	Holoprosencephaly 2 +4 more	GBenign/Likely benign
Select item 2083599	NM_005413.4(SIX3):c.124_141del (p.Gly42_Gly47del)	SIX3	Deletion (inframe_deletion)	Holoprosencephaly 2 +1 more	GConflicting classifications of pathogenicity
Select item 1315869	NM_005413.4(SIX3):c.112G>A (p.Ala38Thr)	SIX3 (A38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435956	NM_005413.4(SIX3):c.119GCG[5] (p.Gly43_Ala44insGly)	SIX3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2115518	NM_005413.4(SIX3):c.119GCG[3] (p.Gly43del)	SIX3 (G43del)	Microsatellite (inframe_deletion)	Holoprosencephaly 2	GUncertain significance
Select item 1532384	NM_005413.4(SIX3):c.120C>A (p.Gly40=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 2090755	NM_005413.4(SIX3):c.130_141dup (p.Gly47_Ser48insAlaGlyGlyGly)	SIX3	Duplication (inframe_insertion)	Holoprosencephaly 2	GUncertain significance
Select item 498633	NM_005413.4(SIX3):c.127G>T (p.Gly43Cys)	SIX3 (G43C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2166932	NM_005413.4(SIX3):c.142_150del (p.Ser48_Gly50del)	SIX3	Deletion (inframe_deletion)	Holoprosencephaly 2	GUncertain significance
Select item 1381015	NM_005413.4(SIX3):c.140G>T (p.Gly47Val)	SIX3 (G47V)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2534563	NM_005413.4(SIX3):c.142A>G (p.Ser48Gly)	SIX3 (S48G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2855879	NM_005413.4(SIX3):c.154A>T (p.Asn52Tyr)	SIX3 (N52Y)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2534564	NM_005413.4(SIX3):c.157G>T (p.Gly53Cys)	SIX3 (G53C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2976609	NM_005413.4(SIX3):c.162G>A (p.Ala54=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 1349726	NM_005413.4(SIX3):c.164G>A (p.Gly55Glu)	SIX3 (G55E)	Single nucleotide variant (missense variant)	Holoprosencephaly 2 +1 more	GUncertain significance
Select item 502137	NM_005413.4(SIX3):c.168C>T (p.Gly56=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2 +1 more	GUncertain significance
Select item 545577	NM_005413.4(SIX3):c.169G>T (p.Gly57Cys)	SIX3 (G57C)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2425288	NM_005413.4(SIX3):c.171C>T (p.Gly57=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 2726899	NM_005413.4(SIX3):c.172G>T (p.Gly58Cys)	SIX3 (G58C)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 288987	NM_005413.4(SIX3):c.180C>T (p.Gly60=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2289221	NM_005413.4(SIX3):c.181G>A (p.Gly61Arg)	SIX3 (G61R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2917358	NM_005413.4(SIX3):c.187GGC[9] (p.Gly69_Ser70insGlyGly)	SIX3	Microsatellite (inframe_insertion)	Holoprosencephaly 2	GUncertain significance
Select item 2180945	NM_005413.4(SIX3):c.187GGC[10] (p.Gly69_Ser70insGlyGlyGly)	SIX3	Microsatellite (inframe_insertion)	Holoprosencephaly 2	GUncertain significance
Select item 193312	NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup)	SIX3	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3060494	NM_005413.4(SIX3):c.187GGC[6] (p.Gly69del)	SIX3 (G69del)	Microsatellite (inframe deletion)	SIX3-related condition	GLikely benign
Select item 1902608	NM_005413.4(SIX3):c.196G>A (p.Gly66Ser)	SIX3 (G66S)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2858627	NM_005413.4(SIX3):c.205G>T (p.Gly69Cys)	SIX3 (G69C)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 487087	NM_005413.4(SIX3):c.206G>A (p.Gly69Asp)	SIX3 (G69D)	Single nucleotide variant (missense variant)	Holoprosencephaly 2 +1 more	GUncertain significance
Select item 931003	NM_005413.4(SIX3):c.208T>C (p.Ser70Pro)	SIX3 (S70P)	Single nucleotide variant (missense variant)	Schizencephaly	GUncertain significance
Select item 2990298	NM_005413.4(SIX3):c.209C>G (p.Ser70Cys)	SIX3 (S70C)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2435955	NM_005413.4(SIX3):c.214G>T (p.Ala72Ser)	SIX3 (A72S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807739	NM_005413.4(SIX3):c.215C>T (p.Ala72Val)	SIX3 (A72V)	Single nucleotide variant (missense variant)	Holoprosencephaly 2 +1 more	GUncertain significance
Select item 2429429	NM_005413.4(SIX3):c.219_221del (p.Pro74del)	SIX3 (P74del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 708058	NM_005413.4(SIX3):c.216C>T (p.Ala72=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 65493	NM_005413.4(SIX3):c.219C>T (p.Pro73=)	SIX3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1463172	NM_005413.4(SIX3):c.221C>G (p.Pro74Arg)	SIX3 (P74R)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 1498282	NM_005413.4(SIX3):c.227A>T (p.Glu76Val)	SIX3 (E76V)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2851266	NM_005413.4(SIX3):c.237G>C (p.Met79Ile)	SIX3 (M79I)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 2077905	NM_005413.4(SIX3):c.244C>T (p.Leu82=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2 +1 more	GLikely benign
Select item 2154244	NM_005413.4(SIX3):c.246G>T (p.Leu82=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 1663892	NM_005413.4(SIX3):c.264G>A (p.Ser88=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 2500510	NM_005413.4(SIX3):c.271C>T (p.Gln91Ter)	SIX3 (Q91*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2734182	NM_005413.4(SIX3):c.275T>G (p.Val92Gly)	SIX3 (V92G)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GPathogenic
Select item 3162570	NM_005413.4(SIX3):c.278C>T (p.Ala93Val)	SIX3 (A93V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 489225	NM_005413.4(SIX3):c.288T>A (p.Cys96Ter)	SIX3 (C96*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2104516	NM_005413.4(SIX3):c.294G>T (p.Thr98=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 2863580	NM_005413.4(SIX3):c.296_304dup (p.Glu101_Thr102insMetGluGlu)	SIX3	Duplication (inframe_insertion)	Holoprosencephaly 2	GUncertain significance
Select item 723282	NM_005413.4(SIX3):c.300G>A (p.Glu100=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 390197	NM_005413.4(SIX3):c.306G>A (p.Thr102=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2 +1 more	GBenign/Likely benign
Select item 2576903	NM_005413.4(SIX3):c.307G>C (p.Gly103Arg)	SIX3 (G103R)	Single nucleotide variant (missense variant)	Holoprosencephaly 2 +1 more	GUncertain significance
Select item 760736	NM_005413.4(SIX3):c.324G>A (p.Leu108=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 664413	NM_005413.4(SIX3):c.338G>C (p.Trp113Ser)	SIX3 (W113S)	Single nucleotide variant (missense variant)	Holoprosencephaly 2	GUncertain significance
Select item 6099	NM_005413.4(SIX3):c.339G>T (p.Trp113Cys)	SIX3 (W113C)	Single nucleotide variant (missense variant)	not specified	GPathogenic
Select item 3017760	NM_005413.4(SIX3):c.342G>T (p.Ser114=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 586592	NM_005413.4(SIX3):c.348C>T (p.Pro116=)	SIX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 682177	NM_005413.4(SIX3):c.351G>A (p.Val117=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2 +1 more	GBenign/Likely benign
Select item 280334	NM_005413.4(SIX3):c.357del (p.Ala121fs)	SIX3 (A121fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 743454	NM_005413.4(SIX3):c.363G>T (p.Ala121=)	SIX3	Single nucleotide variant (synonymous variant)	Holoprosencephaly 2	GLikely benign
Select item 284060	NM_005413.4(SIX3):c.369G>A (p.Glu123=)	SIX3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 284902	NM_005413.4(SIX3):c.375C>A (p.Ile125=)	SIX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2650864	NM_005413.4(SIX3):c.382C>T (p.His128Tyr)	SIX3 (H128Y)	Single nucleotide variant (missense variant)	Holoprosencephaly 2 +1 more	GUncertain significance

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