255928[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 1261366	NC_000001.11:g.209937897A>T	LOC113939983, SYT14	Single nucleotide variant	not provided	GBenign
Select item 1181007	NC_000001.11:g.209938148C>T	SYT14	Single nucleotide variant	not provided	GBenign
Select item 1804620	NM_153262.3(SYT14):c.-64C>T	SYT14	Single nucleotide variant	not provided	GLikely benign
Select item 448640	NM_001146262.4(SYT14):c.-13T>C	SYT14 (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2270008	NM_001146262.4(SYT14):c.-5G>A	SYT14 (A4T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 747556	NM_001146262.4(SYT14):c.-3A>G	SYT14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2592327	NM_001146262.4(SYT14):c.8T>C (p.Ile3Thr)	SYT14 (I3T)	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
Select item 432092	NM_001146262.4(SYT14):c.13+1G>A	SYT14	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1238189	NM_001146262.4(SYT14):c.13+111G>A	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241939	NM_001146262.4(SYT14):c.14-174T>C	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1807456	NM_001146262.4(SYT14):c.42A>G (p.Glu14=)	SYT14 (N19S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1302785	NM_001146262.4(SYT14):c.61+168_61+170del	SYT14	Microsatellite (intron variant)	not provided	GBenign
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 1254624	NM_001146262.4(SYT14):c.61+12968G>A	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047989	NM_001146262.4(SYT14):c.61+13133_61+13134dup	SYT14	Duplication (intron variant)	SYT14-related disorder	GLikely benign
Select item 994519	NM_001146262.4(SYT14):c.61+13142G>T	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1256596	NM_001146262.4(SYT14):c.61+13176A>G	SYT14 (T39A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1256598	NM_001146262.4(SYT14):c.61+13201G>A	SYT14 (R47H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1229055	NM_001146262.4(SYT14):c.61+13405C>T	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256599	NM_001146262.4(SYT14):c.118C>A (p.Leu40Met)	SYT14 (L2M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2470775	NM_001146262.4(SYT14):c.121C>T (p.Leu41Phe)	SYT14 (L3F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 750935	NM_001146262.4(SYT14):c.192A>G (p.Glu64=)	SYT14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 448641	NM_001146262.4(SYT14):c.198_203del (p.Ser66_Thr67del)	SYT14	Deletion (inframe_deletion +2 more)	not provided	GUncertain significance
Select item 448642	NM_001146262.4(SYT14):c.202A>G (p.Arg68Gly)	SYT14 (R113G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1226762	NM_001146262.4(SYT14):c.227-183_227-182insGT	SYT14	Insertion (intron variant)	not provided	GBenign
Select item 1265709	NM_001146262.4(SYT14):c.227-181TG[8]	SYT14	Microsatellite (intron variant)	not provided	GBenign
Select item 1183656	NM_001146262.4(SYT14):c.227-182A>G	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 448643	NM_001146262.4(SYT14):c.272G>A (p.Ser91Asn)	SYT14 (S136N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172975	NM_001146262.4(SYT14):c.274G>A (p.Glu92Lys)	SYT14 (E54K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 795879	NM_001146262.4(SYT14):c.285G>C (p.Ala95=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 586695	NM_001146262.4(SYT14):c.285G>T (p.Ala95=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 586694	NM_001146262.4(SYT14):c.285G>A (p.Ala95=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	SYT14-related disorder +1 more	GLikely benign
Select item 1256600	NM_001146262.4(SYT14):c.367T>C (p.Trp123Arg)	SYT14 (W123R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 805534	NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg)	SYT14 (P131R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 805535	NM_001146262.4(SYT14):c.398C>T (p.Ser133Leu)	SYT14 (S133L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 713885	NM_001146262.4(SYT14):c.399G>A (p.Ser133=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 586696	NM_001146262.4(SYT14):c.408T>C (p.Tyr136=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1326087	NM_001146262.4(SYT14):c.442+86A>G	SYT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261732	NM_001146262.4(SYT14):c.443-281_443-280insCTAA	SYT14	Insertion (intron variant)	not provided	GBenign
Select item 2321046	NM_001146262.4(SYT14):c.446A>G (p.Asn149Ser)	SYT14 (N149S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 586697	NM_001146262.4(SYT14):c.529C>T (p.Leu177=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2456311	NM_001146262.4(SYT14):c.551T>C (p.Ile184Thr)	SYT14 (I229T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 805536	NM_001146262.4(SYT14):c.587A>G (p.Asn196Ser)	SYT14 (N158S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 212360	NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)	SYT14 (E270del +3 more)	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 796874	NM_001146262.4(SYT14):c.711T>C (p.Pro237=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1256601	NM_001146262.4(SYT14):c.715-3T>C	SYT14	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2684022	NM_001146262.4(SYT14):c.774A>C (p.Glu258Asp)	SYT14 (E220D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 448637	NM_001146262.4(SYT14):c.881G>A (p.Gly294Asp)	SYT14 (G339D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 758669	NM_001146262.4(SYT14):c.936A>G (p.Ala312=)	SYT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328170	NM_001146262.4(SYT14):c.1034T>G (p.Phe345Cys)	SYT14 (F345C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623252	NM_001146262.4(SYT14):c.1054C>T (p.Arg352Cys)	SYT14 (R397C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 586691	NM_001146262.4(SYT14):c.1055G>A (p.Arg352His)	SYT14 (R397H +3 more)	Single nucleotide variant (missense variant)	SYT14-related disorder +1 more	GLikely benign
Select item 716187	NM_001146262.4(SYT14):c.1068A>G (p.Glu356=)	SYT14	Single nucleotide variant (synonymous variant)	SYT14-related disorder +1 more	GBenign/Likely benign
Select item 739070	NM_001146262.4(SYT14):c.1131G>A (p.Leu377=)	SYT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745751	NM_001146262.4(SYT14):c.1141T>C (p.Leu381=)	SYT14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1807458	NM_001146262.4(SYT14):c.1154_1155delinsTT (p.Tyr385Phe)	SYT14 (Y347F +3 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1295577	NM_001146262.4(SYT14):c.1164+80A>T	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228736	NM_001146262.4(SYT14):c.1165-253G>T	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256597	NM_001146262.4(SYT14):c.1182G>A (p.Met394Ile)	SYT14 (M356I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2222978	NM_001146262.4(SYT14):c.1184G>A (p.Ser395Asn)	SYT14 (S357N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386690	NM_001146262.4(SYT14):c.1186G>A (p.Val396Met)	SYT14 (V358M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3172972	NM_001146262.4(SYT14):c.1239T>A (p.His413Gln)	SYT14 (H375Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482133	NM_001146262.4(SYT14):c.1301C>T (p.Ala434Val)	SYT14 (A396V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278786	NM_001146262.4(SYT14):c.1315G>A (p.Gly439Ser)	SYT14 (G729S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 30861	NM_001146262.4(SYT14):c.1316G>A (p.Gly439Asp)	SYT14 (G484D +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive spinocerebellar ataxia 11	GPathogenic
Select item 1226551	NM_001146262.4(SYT14):c.1355-230dup	SYT14	Duplication (intron variant)	not provided	GBenign
Select item 1321724	NM_001146262.4(SYT14):c.1355-189C>A	SYT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 723911	NM_001146262.4(SYT14):c.1355-9T>C	SYT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2307999	NM_001146262.4(SYT14):c.1366T>C (p.Cys456Arg)	SYT14 (C501R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1302479	NM_001146262.4(SYT14):c.1412-298A>G	SYT14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707939	NM_001146262.4(SYT14):c.1412-131C>T	SYT14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 130533	NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1807455	NM_001146262.4(SYT14):c.1444A>G (p.Met482Val)	SYT14 (M425V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 805533	NM_001146262.4(SYT14):c.1447G>A (p.Gly483Ser)	SYT14 (G464S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 586692	NM_001146262.4(SYT14):c.1495_1500del (p.Asn499_Pro500del)	SYT14	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3172973	NM_001146262.4(SYT14):c.1493C>G (p.Pro498Arg)	SYT14 (P769R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035754	NM_001146262.4(SYT14):c.1536A>G (p.Leu512=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	SYT14-related disorder	GLikely benign
Select item 791231	NM_001146262.4(SYT14):c.1539T>C (p.Phe513=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3172974	NM_001146262.4(SYT14):c.1564C>G (p.Leu522Val)	SYT14 (L503V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 994517	NM_001146262.4(SYT14):c.1649A>G (p.Glu550Gly)	SYT14 (E493G +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807457	NM_001146262.4(SYT14):c.1655A>G (p.Asn552Ser)	SYT14 (N495S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 448638	NM_001146262.4(SYT14):c.1701A>C (p.Arg567Ser)	SYT14 (R612S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 448639	NM_001146262.4(SYT14):c.1709C>T (p.Ala570Val)	SYT14 (A615V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 586693	NM_001146262.4(SYT14):c.1710G>A (p.Ala570=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 994518	NM_001146262.4(SYT14):c.1724G>A (p.Ter575=)	SYT14	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1267077	NM_001146262.4(SYT14):c.*280TAATTT[1]	SYT14	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979929	GRCh37/hg19 1q32.2(chr1:208703835-210154164)x3	G0S2, TRAF3IP3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CSRP1, PPFIA4 +145 more	Copy number gain	not provided	Gnot provided
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance

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