STRN3[gene] - ClinVar

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

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 2494918	NM_001083893.2(STRN3):c.2389G>A (p.Val797Ile)	COCH, STRN3 (V713I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546223	NM_001083893.2(STRN3):c.2350A>G (p.Ile784Val)	COCH, STRN3 (I700V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171653	NM_001083893.2(STRN3):c.2191G>A (p.Val731Ile)	STRN3 (V731I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359746	NM_001083893.2(STRN3):c.2183G>C (p.Ser728Thr)	STRN3 (S728T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304679	NM_001083893.2(STRN3):c.2170G>A (p.Asp724Asn)	STRN3 (D724N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231582	NM_001083893.2(STRN3):c.2120T>A (p.Phe707Tyr)	STRN3 (F707Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483724	NM_001083893.2(STRN3):c.2091A>G (p.Ile697Met)	STRN3 (I697M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289648	NM_001083893.2(STRN3):c.1958C>A (p.Thr653Asn)	STRN3 (T569N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216389	NM_001083893.2(STRN3):c.1942G>A (p.Val648Ile)	STRN3 (V564I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343277	NM_001083893.2(STRN3):c.1930C>T (p.Pro644Ser)	STRN3 (P560S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338530	NM_001083893.2(STRN3):c.1915T>C (p.Phe639Leu)	STRN3 (F555L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323431	NM_001083893.2(STRN3):c.1883A>G (p.Asp628Gly)	STRN3 (D544G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231808	NM_001083893.2(STRN3):c.1852A>G (p.Lys618Glu)	STRN3 (K618E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323429	NM_001083893.2(STRN3):c.1847A>G (p.Gln616Arg)	STRN3 (Q532R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171652	NM_001083893.2(STRN3):c.1704T>G (p.Asp568Glu)	STRN3 (D568E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171651	NM_001083893.2(STRN3):c.1697G>A (p.Ser566Asn)	STRN3 (S566N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2524607	NM_001083893.2(STRN3):c.1621A>G (p.Ile541Val)	STRN3 (I541V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323433	NM_001083893.2(STRN3):c.1599C>T (p.Ile533=)	STRN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2412165	NM_001083893.2(STRN3):c.1540C>T (p.Pro514Ser)	STRN3 (P430S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171650	NM_001083893.2(STRN3):c.1400G>A (p.Arg467Gln)	STRN3 (R383Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171649	NM_001083893.2(STRN3):c.1364A>G (p.Tyr455Cys)	STRN3 (Y371C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208969	NM_001083893.2(STRN3):c.1232C>T (p.Ala411Val)	STRN3 (A411V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368940	NM_001083893.2(STRN3):c.1183C>G (p.Gln395Glu)	STRN3 (Q395E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361772	NM_001083893.2(STRN3):c.1121A>G (p.Tyr374Cys)	STRN3 (Y374C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2644151	NM_001083893.2(STRN3):c.1100G>A (p.Arg367Lys)	STRN3 (R367K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2471085	NM_001083893.2(STRN3):c.1076G>A (p.Arg359Gln)	STRN3 (R359Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545972	NM_001083893.2(STRN3):c.1024G>T (p.Asp342Tyr)	STRN3 (D342Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490989	NM_001083893.2(STRN3):c.1009A>C (p.Thr337Pro)	STRN3 (T337P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510930	NM_001083893.2(STRN3):c.1004C>T (p.Ser335Phe)	STRN3 (S335F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311436	NM_001083893.2(STRN3):c.1000C>T (p.Leu334Phe)	STRN3 (L334F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226721	NM_001083893.2(STRN3):c.868G>C (p.Ala290Pro)	STRN3 (A290P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323432	NM_001083893.2(STRN3):c.827A>G (p.His276Arg)	STRN3 (H276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171660	NM_001083893.2(STRN3):c.824A>G (p.Lys275Arg)	STRN3 (K275R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467613	NM_001083893.2(STRN3):c.763G>A (p.Asp255Asn)	STRN3 (D255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377356	NM_001083893.2(STRN3):c.758A>C (p.Asn253Thr)	STRN3 (N253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171659	NM_001083893.2(STRN3):c.746A>G (p.Asn249Ser)	STRN3 (N249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237214	NM_001083893.2(STRN3):c.596G>A (p.Arg199Gln)	STRN3 (R199Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592050	NM_001083893.2(STRN3):c.572C>T (p.Thr191Ile)	STRN3 (T191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356523	NM_001083893.2(STRN3):c.512C>T (p.Thr171Met)	STRN3 (T171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558789	NM_001083893.2(STRN3):c.478G>C (p.Glu160Gln)	STRN3 (E160Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171658	NM_001083893.2(STRN3):c.424A>T (p.Asn142Tyr)	STRN3 (N142Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171656	NM_001083893.2(STRN3):c.416C>T (p.Thr139Met)	STRN3 (T139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171655	NM_001083893.2(STRN3):c.401A>T (p.Lys134Ile)	STRN3 (K134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319011	NM_001083893.2(STRN3):c.290T>C (p.Ile97Thr)	STRN3 (I97T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644152	NM_001083893.2(STRN3):c.287G>A (p.Arg96Gln)	STRN3 (R96Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 560123	Single allele	ARHGAP5-AS1, DTD2 +35 more	Deletion	Mitochondrial complex I deficiency	GUncertain significance
Select item 380897	NM_001128126.3(AP4S1):c.-77G>A	AP4S1, STRN3	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 3171654	NM_001083893.2(STRN3):c.233G>T (p.Arg78Leu)	AP4S1, LOC130055445 +1 more (R78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253337	NM_001083893.2(STRN3):c.205C>G (p.Leu69Val)	AP4S1, LOC130055445 +1 more (L69V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251751	NM_001083893.2(STRN3):c.182A>G (p.Gln61Arg)	AP4S1, LOC130055445 +1 more (Q61R)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2615059	NM_001083893.2(STRN3):c.179C>G (p.Pro60Arg)	AP4S1, LOC130055445 +1 more (P60R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590822	NM_001083893.2(STRN3):c.130C>T (p.Pro44Ser)	AP4S1, LOC130055445 +1 more (P44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545154	NM_001083893.2(STRN3):c.106G>A (p.Gly36Arg)	AP4S1, LOC130055445 +1 more (G36R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531781	NM_001083893.2(STRN3):c.98G>A (p.Gly33Glu)	AP4S1, LOC130055445 +1 more (G33E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532256	NM_001083893.2(STRN3):c.85G>A (p.Gly29Ser)	AP4S1, LOC130055445 +1 more (G29S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684717	GRCh37/hg19 14q12(chr14:31230778-31437901)x3	COCH, STRN3	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 997966	GRCh37/hg19 14q12(chr14:27450705-31529481)x3	AP4S1, COCH +5 more	Copy number gain	Epilepsy +1 more	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 688414	GRCh37/hg19 14q12-13.1(chr14:30448939-35017859)x1	AKAP6, AP4S1 +14 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	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: 81