SEC14L3[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
Select item 3159125	NM_174975.5(SEC14L3):c.1180G>C (p.Asp394His)	SEC14L3 (D317H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247952	NM_174975.5(SEC14L3):c.1170G>A (p.Met390Ile)	SEC14L3 (M331I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288057	NM_174975.5(SEC14L3):c.1156C>T (p.Pro386Ser)	SEC14L3 (P386S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159124	NM_174975.5(SEC14L3):c.1147G>T (p.Val383Phe)	SEC14L3 (V324F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380691	NM_174975.5(SEC14L3):c.1078G>A (p.Val360Ile)	SEC14L3 (V301I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159123	NM_174975.5(SEC14L3):c.1022G>A (p.Arg341His)	SEC14L3 (R264H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159122	NM_174975.5(SEC14L3):c.1001C>G (p.Thr334Arg)	SEC14L3 (T334R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159134	NM_174975.5(SEC14L3):c.985C>T (p.Arg329Trp)	SEC14L3 (R270W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159133	NM_174975.5(SEC14L3):c.978G>C (p.Glu326Asp)	SEC14L3 (E249D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354282	NM_174975.5(SEC14L3):c.972G>T (p.Met324Ile)	SEC14L3 (M265I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159132	NM_174975.5(SEC14L3):c.949G>A (p.Gly317Arg)	SEC14L3 (G240R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357998	NM_174975.5(SEC14L3):c.904G>A (p.Val302Ile)	SEC14L3 (V225I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314814	NM_174975.5(SEC14L3):c.839A>C (p.His280Pro)	SEC14L3 (H221P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159131	NM_174975.5(SEC14L3):c.812G>A (p.Arg271Gln)	SEC14L3 (R271Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159129	NM_174975.5(SEC14L3):c.784G>A (p.Gly262Arg)	SEC14L3 (G262R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159128	NM_174975.5(SEC14L3):c.779A>G (p.Tyr260Cys)	SEC14L3 (Y201C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604749	NM_174975.5(SEC14L3):c.676G>A (p.Glu226Lys)	SEC14L3 (E149K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159127	NM_174975.5(SEC14L3):c.638C>G (p.Thr213Ser)	SEC14L3 (T136S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653058	NM_174975.5(SEC14L3):c.540G>A (p.Glu180=)	SEC14L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381606	NM_174975.5(SEC14L3):c.529C>T (p.Leu177Phe)	SEC14L3 (L118F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304248	NM_174975.5(SEC14L3):c.329G>T (p.Gly110Val)	SEC14L3 (G33V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335464	NM_174975.5(SEC14L3):c.319G>T (p.Asp107Tyr)	SEC14L3 (D107Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570195	NM_174975.5(SEC14L3):c.250A>C (p.Met84Leu)	SEC14L3 (M25L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159126	NM_174975.5(SEC14L3):c.180G>A (p.Met60Ile)	SEC14L3 (M1I +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2331809	NM_174975.5(SEC14L3):c.119G>A (p.Arg40His)	SEC14L3 (R40H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285666	NM_174975.5(SEC14L3):c.32A>G (p.Lys11Arg)	SEC14L3 (K11R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159130	NM_174975.5(SEC14L3):c.7G>A (p.Gly3Ser)	SEC14L3 (G3S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 50