SERGEF[gene] - ClinVar

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

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	A-GAMMA3'E, ABCC8 +917 more	Copy number gain	See cases	GPathogenic
Select item 2339335	NM_012139.4(SERGEF):c.1291A>G (p.Met431Val)	SERGEF (M431V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401791	NM_012139.4(SERGEF):c.1267G>A (p.Glu423Lys)	SERGEF (E423K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407152	NM_012139.4(SERGEF):c.1169G>A (p.Gly390Asp)	SERGEF (G390D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620802	NM_012139.4(SERGEF):c.1135C>G (p.Gln379Glu)	SERGEF (Q379E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362636	NM_012139.4(SERGEF):c.1130C>T (p.Pro377Leu)	SERGEF (P377L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384442	NM_012139.4(SERGEF):c.1042A>G (p.Ile348Val)	SERGEF (I348V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 2213656	NM_012139.4(SERGEF):c.836C>T (p.Ala279Val)	SERGEF (A279V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516002	NM_012139.4(SERGEF):c.766A>G (p.Lys256Glu)	SERGEF (K256E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292274	NM_012139.4(SERGEF):c.758T>G (p.Val253Gly)	SERGEF (V253G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535791	NM_012139.4(SERGEF):c.614G>C (p.Arg205Thr)	SERGEF (R205T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541224	NM_012139.4(SERGEF):c.612C>G (p.Ser204Arg)	SERGEF (S204R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388767	NM_012139.4(SERGEF):c.560G>T (p.Arg187Leu)	SERGEF (R187L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409484	NM_012139.4(SERGEF):c.448C>T (p.Leu150Phe)	SERGEF (L150F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378162	NM_012139.4(SERGEF):c.382A>T (p.Asn128Tyr)	SERGEF (N128Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304826	NM_012139.4(SERGEF):c.317T>C (p.Val106Ala)	SERGEF (V106A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325933	NM_012139.4(SERGEF):c.56C>T (p.Ala19Val)	LOC130005396, SERGEF (A19V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468669	NM_012139.4(SERGEF):c.53T>G (p.Phe18Cys)	LOC130005396, SERGEF (F18C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375872	NM_012139.4(SERGEF):c.31G>A (p.Ala11Thr)	LOC130005396, SERGEF (A11T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217735	NM_012139.4(SERGEF):c.10G>A (p.Glu4Lys)	LOC130005396, SERGEF (E4K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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	ABCC8, ADM +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	TSG101, UEVLD +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +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	MYOD1, NAV2 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	GALNT18, SAA1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +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	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 40