STMN3[gene] - ClinVar

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

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 58974	GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1	ARFGAP1, ARFRP1 +183 more	Copy number loss	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	OGFR-AS1, OPRL1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	ABHD16B, ARFGAP1 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1, ARFRP1 +165 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 1696472	Single allele	LOC130066361, LOC130066362 +102 more	Duplication	not provided	GUncertain significance
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 58979	GRCh38/hg38 20q13.33(chr20:63448830-63673793)x1	EEF1A2, FNDC11 +59 more	Copy number loss	See cases	GPathogenic
Select item 2475133	NM_015894.4(STMN3):c.530A>G (p.Glu177Gly)	STMN3 (E166G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317461	NM_015894.4(STMN3):c.467A>C (p.Glu156Ala)	STMN3 (E145A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460110	NM_015894.4(STMN3):c.457G>T (p.Ala153Ser)	STMN3 (A142S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171454	NM_015894.4(STMN3):c.452T>G (p.Leu151Arg)	STMN3 (L151R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323597	NM_015894.4(STMN3):c.249G>T (p.Glu83Asp)	STMN3 (E72D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518469	NM_015894.4(STMN3):c.182C>T (p.Pro61Leu)	STMN3 (P61L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280551	NM_015894.4(STMN3):c.175A>G (p.Lys59Glu)	STMN3 (K48E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291014	NM_015894.4(STMN3):c.152G>A (p.Gly51Asp)	STMN3 (G40D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454971	NM_015894.4(STMN3):c.58C>T (p.Leu20Phe)	STMN3 (L20F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171453	NM_015894.4(STMN3):c.15T>G (p.Ile5Met)	STMN3 (I5M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062407	GRCh37/hg19 20q13.33(chr20:61716119-62416074)x1	ARFGAP1, ARFRP1 +22 more	Copy number loss	not specified	GPathogenic
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2427484	NC_000020.10:g.(?_61978090)_(62324656_?)del	SRMS, STMN3 +9 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2424333	NC_000020.10:g.(?_60831241)_(62680869_?)dup	SLC17A9, TNFRSF6B +50 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2424110	NC_000020.10:g.(?_61978090)_(62324656_?)dup	CHRNA4, EEF1A2 +9 more	Duplication	Dyskeratosis congenita, autosomal recessive 5 +1 more	GUncertain significance
Select item 2424102	NC_000020.10:g.(?_62075992)_(62324656_?)del	EEF1A2, FNDC11 +8 more	Deletion	Dyskeratosis congenita, autosomal recessive 5 +2 more	GPathogenic
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526700	GRCh37/hg19 20q13.33(chr20:61797521-62318983)	ARFGAP1, BIRC7 +14 more	Copy number loss	not specified	GPathogenic
Select item 1526699	GRCh37/hg19 20q13.33(chr20:61619222-62915555)	ABHD16B, ARFGAP1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1526698	GRCh37/hg19 20q13.33(chr20:61003263-62915555)	ABHD16B, ARFGAP1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1457920	NC_000020.10:g.(?_61987307)_(62329916_?)del	CHRNA4, EEF1A2 +10 more	Deletion	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +1 more	GPathogenic
Select item 1340670	GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1	ABHD16B, ARFGAP1 +35 more	Copy number loss	not provided	GPathogenic
Select item 1330184	GRCh37/hg19 20q13.33(chr20:61828010-62324686)x1	ARFGAP1, BIRC7 +14 more	Copy number loss	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 1326336	GRCh37/hg19 20q13.33(chr20:61038552-62907579)	SLC17A9, ZGPAT +51 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326335	GRCh37/hg19 20q13.33(chr20:61273854-62907579)	HAR1A, HAR1B +47 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326334	GRCh37/hg19 20q13.33(chr20:61041481-62680992)	CHRNA4, ABHD16B +44 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1326329	GRCh37/hg19 20q13.33(chr20:61826780-62660844)	COL20A1, DNAJC5 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 7 +1 more	GLikely pathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 1073749	NC_000020.10:g.(?_62076002)_(62324646_?)del	EEF1A2, FNDC11 +8 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1047899	GRCh37/hg19 20q13.33(chr20:61510452-62315381)	ARFGAP1, BHLHE23 +20 more	Copy number loss	Epileptic spasm	GPathogenic
Select item 999459	NC_000020.10:g.(?_60831241)_(62664346_?)dup	ABHD16B, ADRM1 +49 more	Duplication	Developmental and epileptic encephalopathy, 33 +1 more	GUncertain significance
Select item 979743	GRCh37/hg19 20q13.33(chr20:61507440-62318983)x3	CHRNA4, STMN3 +20 more	Copy number gain	not provided	GUncertain significance
Select item 979741	GRCh37/hg19 20q13.33(chr20:62052925-62318983)x1	PTK6, FNDC11 +8 more	Copy number loss	not provided	GUncertain significance
Select item 979738	GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1	ARFRP1, DNAJC5 +30 more	Copy number loss	not provided	GPathogenic
Select item 833250	NC_000020.10:g.(?_61977556)_(62562941_?)dup	ABHD16B, ARFRP1 +18 more	Duplication	Autosomal dominant nocturnal frontal lobe epilepsy	GUncertain significance
Select item 830535	NC_000020.10:g.(?_61977556)_(62562941_?)del	ABHD16B, ARFRP1 +18 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 816138	GRCh37/hg19 20q13.33(chr20:62090403-62319007)x1	EEF1A2, PPDPF +8 more	Copy number loss	not provided	GUncertain significance
Select item 816137	GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1	ABHD16B, ARFGAP1 +49 more	Copy number loss	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 564637	GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1	SOX18, GMEB2 +29 more	Copy number loss	not provided	GPathogenic
Select item 564634	GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1	PCMTD2, ZGPAT +29 more	Copy number loss	not provided	GPathogenic
Select item 564629	GRCh37/hg19 20q13.33(chr20:61815143-62318983)x1	COL20A1, NKAIN4 +14 more	Copy number loss	not provided	GPathogenic
Select item 564620	GRCh37/hg19 20q13.33(chr20:62141508-62405797)x3	ARFRP1, GMEB2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 503592	GRCh37/hg19 20q13.33(chr20:61974480-62473704)x3	FNDC11, GMEB2 +15 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442909	GRCh37/hg19 20q13.33(chr20:61602977-62450998)x3	ARFGAP1, ARFRP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 442701	GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1	ABHD16B, ARFGAP1 +33 more	Copy number loss	See cases	GPathogenic
Select item 442027	GRCh37/hg19 20q13.33(chr20:62090403-62318983)x1	EEF1A2, FNDC11 +8 more	Copy number loss	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic
Select item 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 395261	GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1	ARFGAP1, ARFRP1 +35 more	Copy number loss	See cases	GPathogenic
Select item 253468	GRCh37/hg19 20q13.33(chr20:61429900-62293991)x1	COL20A1, BHLHE23 +24 more	Copy number loss	See cases	GPathogenic
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	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

Search results

Items: 78