ClinVar for Gene (Select 28232) - ClinVar

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Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320381	NM_013272.4(SLCO3A1):c.860A>G (p.Gln287Arg)	SLCO3A1 (Q287R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320379	NM_013272.4(SLCO3A1):c.1960C>G (p.Arg654Gly)	SLCO3A1 (R654G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165847	NM_013272.4(SLCO3A1):c.963C>A (p.His321Gln)	SLCO3A1 (H321Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165846	NM_013272.4(SLCO3A1):c.1960C>T (p.Arg654Cys)	SLCO3A1 (R654C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165845	NM_013272.4(SLCO3A1):c.1861G>A (p.Val621Ile)	SLCO3A1 (V621I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165844	NM_013272.4(SLCO3A1):c.1721T>G (p.Leu574Trp)	SLCO3A1 (L574W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165843	NM_013272.4(SLCO3A1):c.1564G>A (p.Val522Met)	SLCO3A1 (V522M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165842	NM_013272.4(SLCO3A1):c.1486G>C (p.Ala496Pro)	SLCO3A1 (A496P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165841	NM_013272.4(SLCO3A1):c.1361C>A (p.Pro454His)	SLCO3A1 (P454H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165840	NM_013272.4(SLCO3A1):c.1222C>T (p.Leu408Phe)	SLCO3A1 (L408F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165839	NM_013272.4(SLCO3A1):c.1055C>T (p.Thr352Ile)	LOC125146356, SLCO3A1 (T352I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685534	GRCh37/hg19 15q26.1(chr15:92679630-92773669)x1	SLCO3A1	Copy number loss	not provided	GUncertain significance
Select item 2645719	NM_013272.4(SLCO3A1):c.1678A>G (p.Ile560Val)	SLCO3A1 (I560V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2645718	NM_013272.4(SLCO3A1):c.1380A>G (p.Ala460=)	SLCO3A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2611185	NM_013272.4(SLCO3A1):c.1520C>T (p.Thr507Met)	SLCO3A1 (T507M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	ABHD2, ACAN +86 more	Copy number gain	not provided	GPathogenic
Select item 2479499	NM_013272.4(SLCO3A1):c.1766C>T (p.Pro589Leu)	SLCO3A1 (P589L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463164	NM_013272.4(SLCO3A1):c.886G>A (p.Ala296Thr)	SLCO3A1 (A296T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410865	NM_013272.4(SLCO3A1):c.1977C>G (p.His659Gln)	SLCO3A1 (H659Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351286	NM_013272.4(SLCO3A1):c.464C>T (p.Ser155Leu)	SLCO3A1 (S155L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341912	NM_013272.4(SLCO3A1):c.1554G>C (p.Glu518Asp)	SLCO3A1 (E518D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336237	NM_013272.4(SLCO3A1):c.518C>T (p.Thr173Ile)	SLCO3A1 (T173I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322370	NM_013272.4(SLCO3A1):c.1895C>T (p.Ala632Val)	SLCO3A1 (A632V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319274	NM_013272.4(SLCO3A1):c.1912T>G (p.Phe638Val)	SLCO3A1 (F638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318358	NM_013272.4(SLCO3A1):c.843G>C (p.Leu281Phe)	SLCO3A1 (L281F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307436	NM_013272.4(SLCO3A1):c.472G>T (p.Asp158Tyr)	SLCO3A1 (D158Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247034	NM_001145044.1(SLCO3A1):c.2074A>T (p.Ser692Cys)	SLCO3A1 (S692C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221294	NM_013272.4(SLCO3A1):c.1832A>G (p.Gln611Arg)	SLCO3A1 (Q611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221293	NM_013272.4(SLCO3A1):c.1831C>A (p.Gln611Lys)	SLCO3A1 (Q611K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220847	NM_013272.4(SLCO3A1):c.487C>A (p.Pro163Thr)	SLCO3A1 (P163T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1691116	NM_013272.4(SLCO3A1):c.647-33581T>C	SLCO3A1	Single nucleotide variant (intron variant)	Vascular endothelial growth factor (VEGF) inhibitor response	Gassociation
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1180505	GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1	ADAMTS17, ALDH1A3 +29 more	Copy number loss	not provided	GPathogenic
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 782603	NM_013272.4(SLCO3A1):c.1689-6A>G	SLCO3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774718	NM_013272.4(SLCO3A1):c.1512+23_1512+34del	SLCO3A1	Microsatellite (intron variant)	not provided	GBenign
Select item 687287	GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1	BLM, C15orf32 +14 more	Copy number loss	not provided	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 624482	GRCh37/hg19 15q26.1(chr15:92686402-93172602)x3	C15orf32, FAM174B +2 more	Copy number gain	not provided	GLikely benign
Select item 564229	GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3	ABHD2, ADAMTS17 +66 more	Copy number gain	not provided	GPathogenic
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 503585	GRCh37/hg19 15q26.1(chr15:91935924-92575841)x3	SLCO3A1	Copy number gain	See cases	GUncertain significance
Select item 443650	GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3	ABHD2, ACAN +55 more	Copy number gain	See cases	GLikely pathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395560	GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3	ABHD2, ACAN +79 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 395056	GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798)	ADAMTS17, ALDH1A3 +51 more	Copy number loss	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 394871	GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3	ABHD2, ACAN +87 more	Copy number gain	See cases	GPathogenic
Select item 393972	GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1	FANCI, FES +50 more	Copy number loss	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 253671	GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1	ALDH1A3, SNRPA1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 147600	GRCh38/hg38 15q26.1(chr15:91853990-92049731)x3	LOC121530605, SLCO3A1	Copy number gain	See cases	GBenign
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 59385	GRCh38/hg38 15q26.1(chr15:92170113-93438995)x1	C15orf32, CHASERR +48 more	Copy number loss	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 73