ClinVar for Gene (Select 29966) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323433	NM_001083893.2(STRN3):c.1599C>T (p.Ile533=)	STRN3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
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 3171659	NM_001083893.2(STRN3):c.746A>G (p.Asn249Ser)	STRN3 (N249S)	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 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 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 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 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 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 2644152	NM_001083893.2(STRN3):c.287G>A (p.Arg96Gln)	STRN3 (R96Q)	Single nucleotide variant (missense variant)	not provided	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 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 2592050	NM_001083893.2(STRN3):c.572C>T (p.Thr191Ile)	STRN3 (T191I)	Single nucleotide variant (missense variant)	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 2558789	NM_001083893.2(STRN3):c.478G>C (p.Glu160Gln)	STRN3 (E160Q)	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 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 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 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 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 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 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 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 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 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 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 2467613	NM_001083893.2(STRN3):c.763G>A (p.Asp255Asn)	STRN3 (D255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2377356	NM_001083893.2(STRN3):c.758A>C (p.Asn253Thr)	STRN3 (N253T)	Single nucleotide variant (missense variant)	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 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 2356523	NM_001083893.2(STRN3):c.512C>T (p.Thr171Met)	STRN3 (T171M)	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 2319011	NM_001083893.2(STRN3):c.290T>C (p.Ile97Thr)	STRN3 (I97T)	Single nucleotide variant (missense variant)	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 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 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 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 (missense variant +1 more)	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 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 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 2226721	NM_001083893.2(STRN3):c.868G>C (p.Ala290Pro)	STRN3 (A290P)	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 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 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 560123	Single allele	ARHGAP5-AS1, DTD2 +35 more	Deletion	Mitochondrial complex I deficiency	GUncertain significance
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
Select item 380897	NM_001128126.3(AP4S1):c.-77G>A	AP4S1, STRN3	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 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 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	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 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
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 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	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 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 81