ClinVar for Gene (Select 85360) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 2616506	NM_033025.6(SYDE1):c.557G>A (p.Arg186Gln)	SYDE1 (R119Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607484	NM_033025.6(SYDE1):c.2062G>A (p.Glu688Lys)	SYDE1 (E688K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545377	NM_033025.6(SYDE1):c.2123A>G (p.Asn708Ser)	SYDE1 (N641S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536848	NM_033025.6(SYDE1):c.317C>T (p.Pro106Leu)	SYDE1 (P106L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519546	NM_033025.6(SYDE1):c.772C>T (p.Arg258Trp)	SYDE1 (R191W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499635	GRCh38/hg38 19p13.12-13.11(chr19:15014099-16261691)	LOC130063834, LOC130063835 +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)	Inborn genetic diseases	GUncertain significance
Select item 2482682	NM_033025.6(SYDE1):c.784G>T (p.Ala262Ser)	SYDE1 (A262S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473612	NM_033025.6(SYDE1):c.523G>C (p.Glu175Gln)	SYDE1 (E108Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466184	NM_033025.6(SYDE1):c.160G>A (p.Gly54Arg)	SYDE1 (G54R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2367255	NM_033025.6(SYDE1):c.718G>T (p.Ala240Ser)	SYDE1 (A173S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357818	NM_033025.6(SYDE1):c.1916G>C (p.Gly639Ala)	SYDE1 (G639A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337433	NM_033025.6(SYDE1):c.1269G>C (p.Gln423His)	SYDE1 (Q356H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332578	NM_033025.6(SYDE1):c.712C>T (p.Arg238Cys)	SYDE1 (R238C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300411	NM_033025.6(SYDE1):c.2149G>A (p.Asp717Asn)	SYDE1 (D650N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296069	NM_033025.6(SYDE1):c.305G>C (p.Gly102Ala)	SYDE1 (G102A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294490	NM_033025.6(SYDE1):c.1235A>G (p.Gln412Arg)	SYDE1 (Q345R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289785	NM_033025.6(SYDE1):c.616C>A (p.Leu206Met)	SYDE1 (L139M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274784	NM_033025.6(SYDE1):c.950A>G (p.His317Arg)	SYDE1 (H317R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274163	NM_033025.6(SYDE1):c.1335A>C (p.Lys445Asn)	SYDE1 (K378N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274161	NM_033025.6(SYDE1):c.1334A>G (p.Lys445Arg)	SYDE1 (K378R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261351	NM_033025.6(SYDE1):c.724C>T (p.Pro242Ser)	SYDE1 (P242S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249361	NM_033025.6(SYDE1):c.296G>A (p.Gly99Glu)	SYDE1 (G99E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243429	NM_033025.6(SYDE1):c.793T>C (p.Trp265Arg)	SYDE1 (W198R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243428	NM_033025.6(SYDE1):c.1409T>C (p.Val470Ala)	SYDE1 (V403A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217487	NM_033025.6(SYDE1):c.245G>A (p.Arg82Gln)	SYDE1 (R82Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209271	NM_033025.6(SYDE1):c.2086A>G (p.Thr696Ala)	SYDE1 (T629A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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	ADGRE2, ADGRE3 +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	ADGRL1, ADGRL1-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	LOC126862869, LOC126862870 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47