ClinVar for Gene (Select 85360) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323860	NM_033025.6(SYDE1):c.698G>A (p.Gly233Glu)	SYDE1 (G166E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323859	NM_033025.6(SYDE1):c.1792C>A (p.Gln598Lys)	SYDE1 (Q598K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323858	NM_033025.6(SYDE1):c.1160C>A (p.Ala387Asp)	SYDE1 (A387D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323857	NM_033025.6(SYDE1):c.1732C>T (p.Pro578Ser)	SYDE1 (P578S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323855	NM_033025.6(SYDE1):c.946G>A (p.Asp316Asn)	SYDE1 (D249N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172609	NM_033025.6(SYDE1):c.643C>A (p.Pro215Thr)	SYDE1 (P148T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172608	NM_033025.6(SYDE1):c.458A>C (p.Lys153Thr)	SYDE1 (K86T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172607	NM_033025.6(SYDE1):c.2026G>C (p.Asp676His)	SYDE1 (D609H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172606	NM_033025.6(SYDE1):c.1924G>A (p.Gly642Ser)	SYDE1 (G575S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172605	NM_033025.6(SYDE1):c.1663G>A (p.Val555Met)	SYDE1 (V488M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172604	NM_033025.6(SYDE1):c.1544G>A (p.Arg515Gln)	SYDE1 (R448Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172603	NM_033025.6(SYDE1):c.130G>A (p.Glu44Lys)	SYDE1 (E44K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172602	NM_033025.6(SYDE1):c.1261G>C (p.Val421Leu)	SYDE1 (V354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172601	NM_033025.6(SYDE1):c.1180C>T (p.Arg394Cys)	SYDE1 (R394C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172600	NM_033025.6(SYDE1):c.1087C>G (p.Gln363Glu)	SYDE1 (Q363E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172599	NM_033025.6(SYDE1):c.1051G>A (p.Val351Met)	SYDE1 (V284M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172598	NM_033025.6(SYDE1):c.1018G>A (p.Val340Met)	SYDE1 (V273M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2618591	NM_033025.6(SYDE1):c.104G>A (p.Arg35His)	SYDE1 (R35H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616506	NM_033025.6(SYDE1):c.557G>A (p.Arg186Gln)	SYDE1 (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607484	NM_033025.6(SYDE1):c.2062G>A (p.Glu688Lys)	SYDE1 (E688K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545377	NM_033025.6(SYDE1):c.2123A>G (p.Asn708Ser)	SYDE1 (N641S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536848	NM_033025.6(SYDE1):c.317C>T (p.Pro106Leu)	SYDE1 (P106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519546	NM_033025.6(SYDE1):c.772C>T (p.Arg258Trp)	SYDE1 (R191W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	AKAP8, AKAP8L +105 more	Copy number loss	Chromosome 19p13.13 deletion syndrome	GPathogenic
Select item 2490349	NM_033025.6(SYDE1):c.1615G>A (p.Val539Ile)	SYDE1 (V472I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482682	NM_033025.6(SYDE1):c.784G>T (p.Ala262Ser)	SYDE1 (A262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473612	NM_033025.6(SYDE1):c.523G>C (p.Glu175Gln)	SYDE1 (E108Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466184	NM_033025.6(SYDE1):c.160G>A (p.Gly54Arg)	SYDE1 (G54R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 2391356	NM_033025.6(SYDE1):c.1806T>A (p.Asp602Glu)	SYDE1 (D535E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367255	NM_033025.6(SYDE1):c.718G>T (p.Ala240Ser)	SYDE1 (A173S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357818	NM_033025.6(SYDE1):c.1916G>C (p.Gly639Ala)	SYDE1 (G639A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337433	NM_033025.6(SYDE1):c.1269G>C (p.Gln423His)	SYDE1 (Q356H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332578	NM_033025.6(SYDE1):c.712C>T (p.Arg238Cys)	SYDE1 (R238C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300411	NM_033025.6(SYDE1):c.2149G>A (p.Asp717Asn)	SYDE1 (D650N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296069	NM_033025.6(SYDE1):c.305G>C (p.Gly102Ala)	SYDE1 (G102A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294490	NM_033025.6(SYDE1):c.1235A>G (p.Gln412Arg)	SYDE1 (Q345R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289785	NM_033025.6(SYDE1):c.616C>A (p.Leu206Met)	SYDE1 (L139M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274784	NM_033025.6(SYDE1):c.950A>G (p.His317Arg)	SYDE1 (H317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274163	NM_033025.6(SYDE1):c.1335A>C (p.Lys445Asn)	SYDE1 (K378N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274161	NM_033025.6(SYDE1):c.1334A>G (p.Lys445Arg)	SYDE1 (K378R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261351	NM_033025.6(SYDE1):c.724C>T (p.Pro242Ser)	SYDE1 (P242S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249361	NM_033025.6(SYDE1):c.296G>A (p.Gly99Glu)	SYDE1 (G99E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243429	NM_033025.6(SYDE1):c.793T>C (p.Trp265Arg)	SYDE1 (W198R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243428	NM_033025.6(SYDE1):c.1409T>C (p.Val470Ala)	SYDE1 (V403A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217487	NM_033025.6(SYDE1):c.245G>A (p.Arg82Gln)	SYDE1 (R82Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209271	NM_033025.6(SYDE1):c.2086A>G (p.Thr696Ala)	SYDE1 (T629A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1526657	GRCh37/hg19 19p13.12(chr19:15184922-15582812)	BRD4, EPHX3 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 787484	NM_033025.6(SYDE1):c.1227C>T (p.Pro409=)	SYDE1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	See cases	GPathogenic
Select item 152788	GRCh38/hg38 19p13.12(chr19:15112168-15191333)x1	ILVBL, ILVBL-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64