SERGEF[gene] - ClinVar

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Search results

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 3317513	NM_012139.4(SERGEF):c.1369G>C (p.Gly457Arg)	SERGEF (G457R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339335	NM_012139.4(SERGEF):c.1291A>G (p.Met431Val)	SERGEF (M431V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317514	NM_012139.4(SERGEF):c.1282C>G (p.Gln428Glu)	SERGEF (Q428E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401791	NM_012139.4(SERGEF):c.1267G>A (p.Glu423Lys)	SERGEF (E423K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160227	NM_012139.4(SERGEF):c.1185C>A (p.His395Gln)	SERGEF (H395Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407152	NM_012139.4(SERGEF):c.1169G>A (p.Gly390Asp)	SERGEF (G390D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620802	NM_012139.4(SERGEF):c.1135C>G (p.Gln379Glu)	SERGEF (Q379E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362636	NM_012139.4(SERGEF):c.1130C>T (p.Pro377Leu)	SERGEF (P377L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160226	NM_012139.4(SERGEF):c.1114G>A (p.Val372Ile)	SERGEF (V372I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2384442	NM_012139.4(SERGEF):c.1042A>G (p.Ile348Val)	SERGEF (I348V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3317516	NM_012139.4(SERGEF):c.1027G>A (p.Glu343Lys)	SERGEF (E343K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 3160234	NM_012139.4(SERGEF):c.973A>T (p.Met325Leu)	SERGEF (M325L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317517	NM_012139.4(SERGEF):c.892G>T (p.Gly298Trp)	SERGEF (G298W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213656	NM_012139.4(SERGEF):c.836C>T (p.Ala279Val)	SERGEF (A279V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160232	NM_012139.4(SERGEF):c.832G>C (p.Val278Leu)	SERGEF (V278L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160231	NM_012139.4(SERGEF):c.813G>C (p.Trp271Cys)	SERGEF (W271C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516002	NM_012139.4(SERGEF):c.766A>G (p.Lys256Glu)	SERGEF (K256E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292274	NM_012139.4(SERGEF):c.758T>G (p.Val253Gly)	SERGEF (V253G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535791	NM_012139.4(SERGEF):c.614G>C (p.Arg205Thr)	SERGEF (R205T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541224	NM_012139.4(SERGEF):c.612C>G (p.Ser204Arg)	SERGEF (S204R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388767	NM_012139.4(SERGEF):c.560G>T (p.Arg187Leu)	SERGEF (R187L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160228	NM_012139.4(SERGEF):c.559C>T (p.Arg187Trp)	SERGEF (R187W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409484	NM_012139.4(SERGEF):c.448C>T (p.Leu150Phe)	SERGEF (L150F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378162	NM_012139.4(SERGEF):c.382A>T (p.Asn128Tyr)	SERGEF (N128Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304826	NM_012139.4(SERGEF):c.317T>C (p.Val106Ala)	SERGEF (V106A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160233	NM_012139.4(SERGEF):c.86G>T (p.Gly29Val)	SERGEF (G29V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160229	NM_012139.4(SERGEF):c.62G>T (p.Gly21Val)	SERGEF (G21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317515	NM_012139.4(SERGEF):c.59G>C (p.Trp20Ser)	LOC130005396, SERGEF (W20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325933	NM_012139.4(SERGEF):c.56C>T (p.Ala19Val)	LOC130005396, SERGEF (A19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468669	NM_012139.4(SERGEF):c.53T>G (p.Phe18Cys)	LOC130005396, SERGEF (F18C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375872	NM_012139.4(SERGEF):c.31G>A (p.Ala11Thr)	LOC130005396, SERGEF (A11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217735	NM_012139.4(SERGEF):c.10G>A (p.Glu4Lys)	LOC130005396, SERGEF (E4K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808754	GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3	GTF2H1, HPS5 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527628	GRCh37/hg19 11p15.1(chr11:16820813-18103432)	ABCC8, KCNC1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	CSRP3, GTF2H1 +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815414	GRCh37/hg19 11p15.1(chr11:17873318-17952629)x1	SERGEF	Copy number loss	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 687899	GRCh37/hg19 11p15.1(chr11:16775884-18418719)x3	ABCC8, C11orf58 +22 more	Copy number gain	not provided	GUncertain significance
Select item 687796	GRCh37/hg19 11p15.1(chr11:16436272-18064677)x3	ABCC8, C11orf58 +13 more	Copy number gain	not provided	GUncertain significance
Select item 563866	GRCh37/hg19 11p15.1(chr11:17527585-18606820)x1	GTF2H1, HPS5 +18 more	Copy number loss	not provided	GUncertain significance
Select item 443529	GRCh37/hg19 11p15.1(chr11:17142196-18014467)x3	ABCC8, KCNC1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 424640	GRCh37/hg19 11p15.1(chr11:17899742-18258290)x3	SAA2-SAA4, SAA4 +6 more	Copy number gain	not specified	GLikely benign

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Items: 53