SEPHS2[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 59991	GRCh38/hg38 16p11.2(chr16:30359229-30570499)x3	CD2BP2-DT, DCTPP1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 2404233	NM_012248.4(SEPHS2):c.1268T>C (p.Ile423Thr)	SEPHS2 (I423T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472140	NM_012248.4(SEPHS2):c.1099T>C (p.Ser367Pro)	SEPHS2 (S367P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481451	NM_012248.4(SEPHS2):c.1057G>A (p.Val353Ile)	SEPHS2 (V353I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2492383	NM_012248.4(SEPHS2):c.1018G>T (p.Val340Phe)	SEPHS2 (V340F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546322	NM_012248.4(SEPHS2):c.991A>G (p.Lys331Glu)	SEPHS2 (K331E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335390	NM_012248.4(SEPHS2):c.731T>C (p.Val244Ala)	SEPHS2 (V244A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2560014	NM_012248.4(SEPHS2):c.599G>A (p.Arg200Gln)	SEPHS2 (R200Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607722	NM_012248.4(SEPHS2):c.424C>T (p.Pro142Ser)	SEPHS2 (P142S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247340	NM_012248.4(SEPHS2):c.326G>A (p.Ser109Asn)	SEPHS2 (S109N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357512	NM_012248.4(SEPHS2):c.169A>G (p.Met57Val)	SEPHS2 (M57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556734	NM_012248.4(SEPHS2):c.53A>G (p.Glu18Gly)	SEPHS2 (E18G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485709	NM_012248.4(SEPHS2):c.28T>C (p.Cys10Arg)	SEPHS2 (C10R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1330157	GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1	ALDOA, BOLA2B +29 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 979443	GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3	STX4, DCTPP1 +52 more	Copy number gain	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	DOC2A, FBRS +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221517	GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3	BCKDK, BCL7C +30 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 30