ClinVar for Gene (Select 51150) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316816	NM_016176.6(SDF4):c.169G>A (p.Gly57Arg)	SDF4 (G57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316815	NM_016176.6(SDF4):c.724G>A (p.Gly242Ser)	SDF4 (G242S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316814	NM_016176.6(SDF4):c.499G>A (p.Glu167Lys)	SDF4 (E167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316813	NM_016176.6(SDF4):c.550G>A (p.Glu184Lys)	SDF4 (E184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316812	NM_016176.6(SDF4):c.326G>A (p.Arg109Gln)	SDF4 (R109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316809	NM_016176.6(SDF4):c.989A>G (p.Glu330Gly)	SDF4 (E330G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316808	NM_016176.6(SDF4):c.920A>G (p.Asn307Ser)	SDF4 (N307S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316807	NM_016176.6(SDF4):c.135G>C (p.Glu45Asp)	SDF4 (E45D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247835	NC_000001.10:g.(?_955553)_(1168648_?)dup	AGRN, B3GALT6 +9 more	Duplication	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 3247720	NC_000001.10:g.(?_1146935)_(3768971_?)del	ACAP3, ACTRT2 +60 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 3158919	NM_016176.6(SDF4):c.877G>A (p.Ala293Thr)	SDF4 (A293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158918	NM_016176.6(SDF4):c.799A>G (p.Ile267Val)	SDF4 (I267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158917	NM_016176.6(SDF4):c.520A>G (p.Ile174Val)	SDF4 (I174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158916	NM_016176.6(SDF4):c.448G>T (p.Val150Leu)	SDF4 (V150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158915	NM_016176.6(SDF4):c.418C>T (p.Arg140Cys)	SDF4 (R140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158914	NM_016176.6(SDF4):c.415T>C (p.Phe139Leu)	SDF4 (F139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158913	NM_016176.6(SDF4):c.20C>G (p.Pro7Arg)	SDF4 (P7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158912	NM_016176.6(SDF4):c.269G>A (p.Arg90Gln)	SDF4 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158911	NM_016176.6(SDF4):c.258C>G (p.Asp86Glu)	SDF4 (D86E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158910	NM_016176.6(SDF4):c.191G>A (p.Gly64Glu)	SDF4 (G64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158909	NM_016176.6(SDF4):c.-3G>A	SDF4	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685790	GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	MMP23B, SSU72 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2685789	GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	MIR551A, PANK4 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685787	GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	MMEL1, PEX10 +53 more	Copy number gain	not provided	GUncertain significance
Select item 2685786	GRCh37/hg19 1p36.33(chr1:849467-1207958)x3	AGRN, B3GALT6 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2555289	NM_016176.6(SDF4):c.524G>A (p.Arg175Lys)	SDF4 (R175K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537397	NM_016176.6(SDF4):c.376G>A (p.Glu126Lys)	SDF4 (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533496	NM_016176.6(SDF4):c.865G>A (p.Gly289Ser)	SDF4 (G289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529210	NM_016176.6(SDF4):c.254A>G (p.Glu85Gly)	SDF4 (E85G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2492092	NM_016176.6(SDF4):c.331A>G (p.Ile111Val)	SDF4 (I111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427661	NC_000001.10:g.(?_980719)_(1168648_?)dup	AGRN, B3GALT6 +9 more	Duplication	Congenital myasthenic syndrome 8	GUncertain significance
Select item 2424672	NC_000001.10:g.(?_1146935)_(1168648_?)dup	B3GALT6, SDF4 +1 more	Duplication	Combined immunodeficiency due to OX40 deficiency	GUncertain significance
Select item 2406572	NM_016176.6(SDF4):c.494A>G (p.His165Arg)	SDF4 (H165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398909	NM_016176.6(SDF4):c.1043C>T (p.Ala348Val)	SDF4 (A348V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387497	NM_016176.6(SDF4):c.17G>A (p.Gly6Asp)	SDF4 (G6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386961	NM_016176.6(SDF4):c.736C>T (p.Leu246Phe)	SDF4 (L246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374627	NM_016176.6(SDF4):c.798C>G (p.Asp266Glu)	SDF4 (D266E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373570	NM_016176.6(SDF4):c.482C>T (p.Ala161Val)	SDF4 (A161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360805	NM_016176.6(SDF4):c.508G>A (p.Val170Ile)	SDF4 (V170I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360629	NM_016176.6(SDF4):c.272G>A (p.Arg91Gln)	SDF4 (R91Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356144	NM_016176.6(SDF4):c.1018A>G (p.Thr340Ala)	SDF4 (T340A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290756	NM_016176.6(SDF4):c.-11C>T	SDF4	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2286722	NM_016176.6(SDF4):c.464A>G (p.Tyr155Cys)	SDF4 (Y155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275330	NM_016176.6(SDF4):c.419G>A (p.Arg140His)	SDF4 (R140H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221095	NM_016176.6(SDF4):c.295A>G (p.Ile99Val)	SDF4 (I99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218410	NM_016176.6(SDF4):c.491G>A (p.Gly164Asp)	SDF4 (G164D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207317	NM_016176.6(SDF4):c.80C>T (p.Ala27Val)	SDF4 (A27V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809089	GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3	ACAP3, ANKRD65 +43 more	Copy number gain	not provided	GUncertain significance
Select item 1808915	GRCh37/hg19 1p36.33(chr1:1129319-1264880)x1	ACAP3, B3GALT6 +10 more	Copy number loss	not provided	GUncertain significance
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808116	GRCh37/hg19 1p36.33(chr1:849467-1174365)x3	AGRN, B3GALT6 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1807723	GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	ACAP3, ACTRT2 +63 more	Copy number loss	not provided	GPathogenic
Select item 1706500	GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	ACAP3, AGRN +60 more	Copy number loss	See cases	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1703628	GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	ACAP3, ACTRT2 +76 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1703627	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	TNFRSF18, TNFRSF4 +77 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1684638	Single allele	TMEM240, TMEM88B +181 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1449306	NC_000001.10:g.(?_989123)_(3160711_?)del	MIR429, MMEL1 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1443760	NC_000001.10:g.(?_955553)_(3350375_?)del	AGRN, ANKRD65 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 1412663	NC_000001.10:g.(?_861322)_(3768971_?)del	ATAD3A, ACAP3 +74 more	Deletion	Peroxisome biogenesis disorder, complementation group 7	GPathogenic
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1341246	GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	ACAP3, AGRN +62 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1328099	GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	ACAP3, ACTRT2 +76 more	Copy number loss	not provided	GPathogenic
Select item 1020063	NC_000001.10:g.(?_1146915)_(1168668_?)dup	B3GALT6, SDF4 +1 more	Duplication	Combined immunodeficiency due to OX40 deficiency +2 more	GUncertain significance
Select item 1008424	NC_000001.10:g.(?_948954)_(1284445_?)dup	AGRN, B3GALT6 +19 more	Duplication	not provided	GUncertain significance
Select item 988904	GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	TMEM88B, TNFRSF18 +45 more	Copy number loss	not provided	GPathogenic
Select item 980940	GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	ACAP3, ACTRT2 +80 more	Copy number loss	not provided	GPathogenic
Select item 980936	GRCh37/hg19 1p36.33(chr1:849466-1976788)x1	ATAD3B, ATAD3C +49 more	Copy number loss	not provided	GPathogenic
Select item 980935	GRCh37/hg19 1p36.33(chr1:849466-2033256)x1	ACAP3, AGRN +50 more	Copy number loss	not provided	GPathogenic
Select item 980934	GRCh37/hg19 1p36.33(chr1:849466-1806659)x1	ACAP3, AGRN +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 833146	NC_000001.10:g.(?_955543)_(3350385_?)del	TMEM88B, TTLL10 +58 more	Deletion	Left ventricular noncompaction 8	GUncertain significance
Select item 832780	NC_000001.10:g.(?_955543)_(2238214_?)del	MMP23B, MRPL20 +46 more	Deletion	Congenital myasthenic syndrome 8	GPathogenic
Select item 832325	NC_000001.11:g.(?_1013554)_(1313808_?)del	AGRN, B3GALT6 +16 more	Deletion	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GUncertain significance
Select item 816486	GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	ACAP3, ACTRT2 +66 more	Copy number gain	See cases	GPathogenic
Select item 814048	GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814047	GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	ACAP3, ACTRT2 +77 more	Copy number loss	not provided	GPathogenic
Select item 814046	GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	ACAP3, ACTRT2 +78 more	Copy number loss	not provided	GPathogenic
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 814044	GRCh37/hg19 1p36.33(chr1:849466-1649932)x1	TAS1R3, ATAD3A +42 more	Copy number loss	not provided	GUncertain significance
Select item 780207	NM_016176.6(SDF4):c.105G>A (p.Ser35=)	SDF4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687879	GRCh37/hg19 1p36.33(chr1:854277-1165197)x1	AGRN, C1orf159 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687066	GRCh37/hg19 1p36.33(chr1:958859-1211292)x3	AGRN, B3GALT6 +11 more	Copy number gain	not provided	GUncertain significance
Select item 685974	GRCh37/hg19 1p36.33(chr1:727731-2107858)x3	CFAP74, TNFRSF4 +50 more	Copy number gain	not provided	GUncertain significance
Select item 659614	NC_000001.10:g.(?_955543)_(2957600_?)del	TMEM88B, TNFRSF14 +57 more	Deletion	Shprintzen-Goldberg syndrome	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625817	GRCh37/hg19 1p36.33(chr1:568708-1283779)	ACAP3, AGRN +25 more	Copy number loss	not provided	GLikely pathogenic
Select item 625768	GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	CFAP74, CPTP +62 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625767	GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	MEGF6, MIB2 +71 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic

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