SLC22A8[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 2402063	NM_004254.4(SLC22A8):c.1609C>A (p.Pro537Thr)	SLC22A8 (P446T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710002	NM_004254.4(SLC22A8):c.1590C>A (p.Ile530=)	SLC22A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2338713	NM_004254.4(SLC22A8):c.1576G>T (p.Ala526Ser)	SLC22A8 (A403S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641897	NM_004254.4(SLC22A8):c.1538G>A (p.Arg513Gln)	SLC22A8 (R390Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3319139	NM_004254.4(SLC22A8):c.1444G>A (p.Ala482Thr)	SLC22A8 (A482T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260830	NM_004254.4(SLC22A8):c.1405G>A (p.Val469Ile)	SLC22A8 (V378I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233261	NM_004254.4(SLC22A8):c.1400G>A (p.Gly467Asp)	SLC22A8 (G376D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602668	NM_004254.4(SLC22A8):c.1346G>A (p.Ser449Asn)	SLC22A8 (S326N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217769	NM_004254.4(SLC22A8):c.1328A>C (p.Gln443Pro)	SLC22A8 (Q320P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319141	NM_004254.4(SLC22A8):c.1312C>A (p.Pro438Thr)	SLC22A8 (P315T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309165	NM_004254.4(SLC22A8):c.1273T>A (p.Ser425Thr)	SLC22A8 (S302T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319143	NM_004254.4(SLC22A8):c.1171C>T (p.Leu391Phe)	SLC22A8 (L268F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277751	NM_004254.4(SLC22A8):c.1139T>C (p.Leu380Pro)	SLC22A8 (L289P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745129	NM_004254.4(SLC22A8):c.1030T>C (p.Leu344=)	SLC22A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2484593	NM_004254.4(SLC22A8):c.992C>T (p.Ser331Phe)	SLC22A8 (S240F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486011	NM_004254.4(SLC22A8):c.973C>T (p.Arg325Cys)	SLC22A8 (R325C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538384	NM_004254.4(SLC22A8):c.956G>A (p.Arg319Gln)	SLC22A8 (R319Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1232453	NM_004254.4(SLC22A8):c.913A>T (p.Ile305Phe)	SLC22A8 (I182F +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3163494	NM_004254.4(SLC22A8):c.873G>T (p.Arg291Ser)	SLC22A8 (R291S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710003	NM_004254.4(SLC22A8):c.842T>C (p.Val281Ala)	SLC22A8 (V190A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2261349	NM_004254.4(SLC22A8):c.742G>A (p.Val248Ile)	SLC22A8 (V125I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163493	NM_004254.4(SLC22A8):c.691G>A (p.Ala231Thr)	SLC22A8 (A140T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486481	NM_004254.4(SLC22A8):c.635C>T (p.Thr212Ile)	SLC22A8 (T121I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319140	NM_004254.4(SLC22A8):c.614G>A (p.Arg205Gln)	SLC22A8 (R82Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246314	NM_004254.4(SLC22A8):c.555T>G (p.Phe185Leu)	SLC22A8 (F185L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616754	NM_004254.4(SLC22A8):c.490G>T (p.Gly164Cys)	SLC22A8 (G164C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514129	NM_004254.4(SLC22A8):c.415G>A (p.Val139Met)	SLC22A8 (V48M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477947	NM_004254.4(SLC22A8):c.256A>G (p.Asn86Asp)	SLC22A8 (N86D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163490	NM_004254.4(SLC22A8):c.220C>T (p.Leu74Phe)	SLC22A8 (L74F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319142	NM_004254.4(SLC22A8):c.196C>T (p.Pro66Ser)	SLC22A8 (P66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163489	NM_004254.4(SLC22A8):c.170C>T (p.Thr57Ile)	SLC22A8 (T57I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508620	NM_004254.4(SLC22A8):c.127G>A (p.Ala43Thr)	SLC22A8 (A43T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2223725	NM_004254.4(SLC22A8):c.60T>G (p.His20Gln)	SLC22A8 (H20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3163492	NM_004254.4(SLC22A8):c.44A>G (p.His15Arg)	SLC22A8 (H15R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2229511	NM_004254.4(SLC22A8):c.26G>A (p.Arg9His)	SLC22A8 (R9H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268352	NM_004254.4(SLC22A8):c.25C>T (p.Arg9Cys)	SLC22A8 (R9C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527643	GRCh37/hg19 11q12.3(chr11:62670903-62820292)	CHRM1, SLC22A6 +1 more	Copy number loss	not specified	GUncertain significance
Select item 1340675	GRCh37/hg19 11q12.3(chr11:62782711-63122730)x3	SLC22A10, SLC22A24 +2 more	Copy number gain	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980955	GRCh37/hg19 11q12.3(chr11:62714816-63383226)x3	LGALS12, SLC22A9 +9 more	Copy number gain	not provided	GUncertain significance
Select item 689150	GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3	B3GAT3, BSCL2 +36 more	Copy number gain	not provided	GUncertain significance
Select item 685584	GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3	CHRM1, HNRNPUL2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 563842	GRCh37/hg19 11q12.3(chr11:62782710-63104063)x3	SLC22A24, SLC22A10 +2 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394819	GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1	AHNAK, ASRGL1 +47 more	Copy number loss	See cases	GLikely pathogenic

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Items: 53