SMTNL2[gene] - ClinVar

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

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 153733	GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3	ALOX15, ANKFY1 +42 more	Copy number gain	See cases	GLikely benign
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 145539	GRCh38/hg38 17p13.2(chr17:4044302-4616762)x3	ANKFY1, CYB5D2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 148440	GRCh38/hg38 17p13.2(chr17:4141725-4778120)x1	ALOX15, ANKFY1 +57 more	Copy number loss	See cases	GUncertain significance
Select item 147907	GRCh38/hg38 17p13.2(chr17:4289368-4634221)x3	ALOX15, GGT6 +19 more	Copy number gain	See cases	GUncertain significance
Select item 155206	GRCh38/hg38 17p13.2(chr17:4378892-4687204)x1	ALOX15, GGT6 +26 more	Copy number loss	See cases	GUncertain significance
Select item 3166744	NM_001114974.2(SMTNL2):c.11C>T (p.Ala4Val)	SMTNL2 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166748	NM_001114974.2(SMTNL2):c.19G>T (p.Ala7Ser)	SMTNL2 (A7S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166749	NM_001114974.2(SMTNL2):c.23A>G (p.Gln8Arg)	SMTNL2 (Q8R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399477	NM_001114974.2(SMTNL2):c.25G>A (p.Glu9Lys)	SMTNL2 (E9K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399478	NM_001114974.2(SMTNL2):c.28G>C (p.Ala10Pro)	SMTNL2 (A10P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488682	NM_001114974.2(SMTNL2):c.41G>C (p.Arg14Pro)	SMTNL2 (R14P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347927	NM_001114974.2(SMTNL2):c.105G>C (p.Met35Ile)	SMTNL2 (M35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344411	NM_001114974.2(SMTNL2):c.244G>A (p.Glu82Lys)	SMTNL2 (E82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409701	NM_001114974.2(SMTNL2):c.260C>T (p.Ala87Val)	SMTNL2 (A87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166750	NM_001114974.2(SMTNL2):c.292G>A (p.Gly98Ser)	SMTNL2 (G98S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392507	NM_001114974.2(SMTNL2):c.308C>T (p.Pro103Leu)	SMTNL2 (P103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321061	NM_001114974.2(SMTNL2):c.320G>T (p.Gly107Val)	SMTNL2 (G107V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166751	NM_001114974.2(SMTNL2):c.356G>C (p.Arg119Pro)	SMTNL2 (R119P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362721	NM_001114974.2(SMTNL2):c.404T>C (p.Leu135Ser)	SMTNL2 (L135S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321057	NM_001114974.2(SMTNL2):c.425A>G (p.Glu142Gly)	SMTNL2 (E142G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569134	NM_001114974.2(SMTNL2):c.454T>C (p.Cys152Arg)	SMTNL2 (C8R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730650	NM_001114974.2(SMTNL2):c.525C>A (p.Phe175Leu)	SMTNL2 (F175L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2528309	NM_001114974.2(SMTNL2):c.538C>G (p.Pro180Ala)	SMTNL2 (P180A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337531	NM_001114974.2(SMTNL2):c.547C>T (p.Pro183Ser)	SMTNL2 (P183S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254211	NM_001114974.2(SMTNL2):c.550C>T (p.Arg184Cys)	SMTNL2 (R184C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524463	NM_001114974.2(SMTNL2):c.572G>A (p.Arg191Gln)	SMTNL2 (R47Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333971	NM_001114974.2(SMTNL2):c.586C>G (p.Pro196Ala)	SMTNL2 (P196A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166752	NM_001114974.2(SMTNL2):c.607G>A (p.Val203Ile)	SMTNL2 (V203I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242692	NM_001114974.2(SMTNL2):c.684C>G (p.Asn228Lys)	SMTNL2 (N228K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358216	NM_001114974.2(SMTNL2):c.707C>T (p.Thr236Met)	SMTNL2 (T236M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353563	NM_001114974.2(SMTNL2):c.735G>T (p.Lys245Asn)	SMTNL2 (K101N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3321060	NM_001114974.2(SMTNL2):c.775G>A (p.Gly259Arg)	SMTNL2 (G178R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346735	NM_001114974.2(SMTNL2):c.778G>A (p.Ala260Thr)	SMTNL2 (A116T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166754	NM_001114974.2(SMTNL2):c.811C>T (p.Pro271Ser)	SMTNL2 (P271S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301568	NM_001114974.2(SMTNL2):c.833C>T (p.Ser278Leu)	SMTNL2 (S197L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520302	NM_001114974.2(SMTNL2):c.889C>T (p.Arg297Cys)	SMTNL2 (R216C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405964	NM_001114974.2(SMTNL2):c.890G>A (p.Arg297His)	SMTNL2 (R153H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233724	NM_001114974.2(SMTNL2):c.914C>T (p.Thr305Met)	SMTNL2 (T224M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166755	NM_001114974.2(SMTNL2):c.923G>A (p.Arg308His)	SMTNL2 (R308H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511962	NM_001114974.2(SMTNL2):c.943C>T (p.Arg315Trp)	SMTNL2 (R315W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509805	NM_001114974.2(SMTNL2):c.977C>T (p.Thr326Met)	SMTNL2 (T245M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166742	NM_001114974.2(SMTNL2):c.1025C>T (p.Ser342Leu)	SMTNL2 (S198L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545926	NM_001114974.2(SMTNL2):c.1037G>C (p.Gly346Ala)	SMTNL2 (G346A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454253	NM_001114974.2(SMTNL2):c.1075G>A (p.Glu359Lys)	SMTNL2 (E359K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166743	NM_001114974.2(SMTNL2):c.1130C>T (p.Ser377Phe)	SMTNL2 (S296F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166745	NM_001114974.2(SMTNL2):c.1217C>T (p.Thr406Met)	SMTNL2 (T262M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269817	NM_001114974.2(SMTNL2):c.1237G>A (p.Glu413Lys)	SMTNL2 (E413K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166747	NM_001114974.2(SMTNL2):c.1258G>A (p.Glu420Lys)	SMTNL2 (E276K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468225	NM_001114974.2(SMTNL2):c.1334G>A (p.Cys445Tyr)	SMTNL2 (C301Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781345	NM_001114974.2(SMTNL2):c.1381G>A (p.Glu461Lys)	SMTNL2 (E380K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 1526562	GRCh37/hg19 17p13.2(chr17:4475016-4648525)	ALOX15, ARRB2 +5 more	Copy number loss	not specified	GUncertain significance
Select item 1526561	GRCh37/hg19 17p13.2(chr17:4113551-5023913)	ALOX15, ANKFY1 +31 more	Copy number loss	not specified	GUncertain significance
Select item 1339844	GRCh37/hg19 17p13.2(chr17:3995902-4511207)x3	ANKFY1, CYB5D2 +7 more	Copy number gain	not provided	Gnot provided
Select item 816504	GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1	ABR, ALOX15 +115 more	Copy number loss	See cases	GPathogenic
Select item 815897	GRCh37/hg19 17p13.2(chr17:4245304-4581861)x3	PELP1, SMTNL2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815896	GRCh37/hg19 17p13.2(chr17:3933998-4581861)x3	GGT6, MYBBP1A +9 more	Copy number gain	not provided	GUncertain significance
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 686575	GRCh37/hg19 17p13.2(chr17:3961616-4525393)x3	ANKFY1, CYB5D2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	ABR, ALOX15 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564393	GRCh37/hg19 17p13.2(chr17:4475016-4884701)x3	ARRB2, MINK1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 564392	GRCh37/hg19 17p13.2(chr17:4036861-5174346)x3	CXCL16, SLC52A1 +36 more	Copy number gain	not provided	GUncertain significance
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic
Select item 394425	GRCh37/hg19 17p13.2(chr17:4442248-4544930)x3	ALOX15, GGT6 +3 more	Copy number gain	See cases	GUncertain significance

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: 85