ClinVar for Gene (Select 201305) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	ABR, ACADVL +209 more	Duplication	not provided	GUncertain significance
Select item 3169255	NM_182538.5(SPNS3):c.973T>G (p.Leu325Val)	SPNS3 (L325V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169254	NM_182538.5(SPNS3):c.962T>C (p.Ile321Thr)	SPNS3 (I194T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169253	NM_182538.5(SPNS3):c.623T>A (p.Val208Asp)	SPNS3 (V208D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169252	NM_182538.5(SPNS3):c.622G>A (p.Val208Ile)	SPNS3 (V208I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169251	NM_182538.5(SPNS3):c.619C>G (p.Arg207Gly)	SPNS3 (R207G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169250	NM_182538.5(SPNS3):c.587C>T (p.Thr196Met)	SPNS3 (T196M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169249	NM_182538.5(SPNS3):c.417C>A (p.Phe139Leu)	SPNS3 (F12L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169248	NM_182538.5(SPNS3):c.376C>T (p.Leu126Phe)	SPNS3 (L126F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169247	NM_182538.5(SPNS3):c.178A>G (p.Met60Val)	SPNS3 (M60V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169246	NM_182538.5(SPNS3):c.1498G>A (p.Gly500Ser)	SPNS3 (G373S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169245	NM_182538.5(SPNS3):c.1430G>A (p.Arg477Gln)	SPNS3 (R350Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169244	NM_182538.5(SPNS3):c.1414G>C (p.Glu472Gln)	SPNS3 (E345Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169243	NM_182538.5(SPNS3):c.139G>A (p.Ala47Thr)	SPNS3 (A47T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3169242	NM_182538.5(SPNS3):c.1370T>A (p.Ile457Asn)	LOC130060024, SPNS3 (I457N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169240	NM_182538.5(SPNS3):c.1324C>T (p.Arg442Cys)	LOC130060024, SPNS3 (R315C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169239	NM_182538.5(SPNS3):c.1201C>T (p.Arg401Trp)	SPNS3 (R274W +1 more)	Single nucleotide variant (missense variant)	not specified	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 2684834	GRCh37/hg19 17p13.2(chr17:4092369-4388334)x3	ANKFY1, SPNS3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2671597	Single allele	ABR, ALOX15 +80 more	Deletion	not provided	GPathogenic
Select item 2647255	NM_182538.5(SPNS3):c.1308T>C (p.Pro436=)	SPNS3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647254	NM_182538.5(SPNS3):c.328C>T (p.Arg110Cys)	SPNS3 (R110C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2598680	NM_182538.5(SPNS3):c.487G>A (p.Asp163Asn)	SPNS3 (D163N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590926	NM_182538.5(SPNS3):c.810G>A (p.Met270Ile)	SPNS3 (M143I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2540614	NM_182538.5(SPNS3):c.643G>A (p.Val215Met)	SPNS3 (V215M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539353	NM_182538.5(SPNS3):c.1052C>T (p.Ala351Val)	SPNS3 (A224V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537231	NM_182538.5(SPNS3):c.1265A>G (p.Tyr422Cys)	SPNS3 (Y422C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532405	NM_182538.5(SPNS3):c.725G>T (p.Gly242Val)	SPNS3 (G242V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519394	NM_182538.5(SPNS3):c.1303C>T (p.Arg435Cys)	SPNS3 (R308C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509713	NM_182538.5(SPNS3):c.431G>T (p.Gly144Val)	SPNS3 (G144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495128	NM_182538.5(SPNS3):c.967G>T (p.Val323Phe)	SPNS3 (V196F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473423	NM_182538.5(SPNS3):c.578C>T (p.Ser193Leu)	SPNS3 (S66L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467418	NM_182538.5(SPNS3):c.1202G>A (p.Arg401Gln)	SPNS3 (R401Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466799	NM_182538.5(SPNS3):c.1331G>A (p.Arg444His)	LOC130060024, SPNS3 (R444H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408399	NM_182538.5(SPNS3):c.401G>A (p.Arg134Gln)	SPNS3 (R134Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2405906	NM_182538.5(SPNS3):c.478G>A (p.Val160Ile)	SPNS3 (V33I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405568	NM_182538.5(SPNS3):c.1229C>T (p.Thr410Met)	SPNS3 (T283M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371379	NM_182538.5(SPNS3):c.788C>T (p.Ser263Leu)	SPNS3 (S136L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371077	NM_182538.5(SPNS3):c.293C>T (p.Ala98Val)	SPNS3 (A98V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370809	NM_182538.5(SPNS3):c.1055C>T (p.Thr352Ile)	SPNS3 (T225I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369728	NM_182538.5(SPNS3):c.514C>T (p.Arg172Cys)	SPNS3 (R172C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369640	NM_182538.5(SPNS3):c.715G>A (p.Ala239Thr)	SPNS3 (A112T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361054	NM_182538.5(SPNS3):c.608G>A (p.Arg203His)	SPNS3 (R203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345282	NM_182538.5(SPNS3):c.590T>C (p.Met197Thr)	SPNS3 (M70T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337375	NM_182538.5(SPNS3):c.496G>A (p.Val166Met)	SPNS3 (V166M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325187	NM_182538.5(SPNS3):c.271G>A (p.Val91Ile)	SPNS3 (V91I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2305677	NM_182538.5(SPNS3):c.95T>G (p.Ile32Ser)	SPNS3 (I32S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2294327	NM_182538.5(SPNS3):c.686G>A (p.Arg229Gln)	SPNS3 (R229Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291406	NM_182538.5(SPNS3):c.620G>A (p.Arg207Gln)	SPNS3 (R207Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276412	NM_182538.5(SPNS3):c.506A>G (p.Gln169Arg)	SPNS3 (Q169R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254712	NM_182538.5(SPNS3):c.508C>T (p.Arg170Cys)	SPNS3 (R170C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238067	NM_182538.5(SPNS3):c.805G>T (p.Ala269Ser)	SPNS3 (A142S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229437	NM_182538.5(SPNS3):c.1531G>A (p.Glu511Lys)	SPNS3 (E384K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222472	NM_182538.5(SPNS3):c.856C>T (p.Leu286Phe)	SPNS3 (L286F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214558	NM_182538.5(SPNS3):c.1151A>G (p.Asn384Ser)	SPNS3 (N384S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211937	NM_182538.5(SPNS3):c.427C>T (p.Arg143Trp)	SPNS3 (R143W +1 more)	Single nucleotide variant (missense variant)	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 1340236	GRCh37/hg19 17p13.2(chr17:4026962-4392669)x3	ANKFY1, CYB5D2 +3 more	Copy number gain	not provided	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	CLUH, CRK +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 687271	GRCh37/hg19 17p13.2(chr17:4092385-4379912)x3	ANKFY1, SPNS3 +1 more	Copy number gain	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)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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 394335	GRCh37/hg19 17p13.2(chr17:4383678-4463122)x1	GGT6, MYBBP1A +2 more	Copy number loss	See cases	GUncertain significance
Select item 393740	GRCh37/hg19 17p13.2(chr17:4299648-4416542)x3	SPNS2, SPNS3	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 154947	GRCh38/hg38 17p13.2(chr17:4141725-4873241)x3	ALOX15, ANKFY1 +70 more	Copy number gain	See cases	GUncertain significance
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 153733	GRCh38/hg38 17p13.2(chr17:3928523-4637233)x3	ALOX15, ANKFY1 +42 more	Copy number gain	See cases	GLikely benign
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 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 152578	GRCh38/hg38 17p13.2(chr17:4451053-4490484)x3	LOC126862467, LOC130060024 +1 more	Copy number gain	See cases	GUncertain significance
Select item 151168	GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3	ANKFY1, ATP2A3 +50 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 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
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 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 146057	GRCh38/hg38 17p13.2(chr17:4217106-4538953)x3	ANKFY1, LOC121587571 +17 more	Copy number gain	See cases	GUncertain significance
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 145539	GRCh38/hg38 17p13.2(chr17:4044302-4616762)x3	ANKFY1, CYB5D2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	ALOX15, ANKFY1 +303 more	Copy number loss	See cases	GPathogenic
Select item 60131	GRCh38/hg38 17p13.2(chr17:4201600-4574195)x3	ANKFY1, GGT6 +20 more	Copy number gain	See cases	GUncertain significance
Select item 60101	GRCh38/hg38 17p13.2(chr17:4141725-4472701)x3	ANKFY1, CYB5D2 +13 more	Copy number gain	See cases	GUncertain significance
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 99