SLC22A1[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	LOC126859906, LOC126859907 +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	LOC126859863, LOC126859864 +270 more	Copy number loss	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	LOC129997603, LOC129997604 +115 more	Copy number gain	See cases	GUncertain significance
Select item 58455	GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1	ACAT2, AFDN +339 more	Copy number loss	See cases	GPathogenic
Select item 58456	GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1	LOC113174973, LOC116183078 +321 more	Copy number loss	See cases	GPathogenic
Select item 150838	GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1	AFDN, AFDN-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 2262522	NM_003057.3(SLC22A1):c.74T>C (p.Leu25Ser)	SLC22A1 (L25S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588571	NM_003057.3(SLC22A1):c.118G>A (p.Val40Ile)	SLC22A1 (V40I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508102	NM_003057.3(SLC22A1):c.125T>G (p.Leu42Arg)	SLC22A1 (L42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254541	NM_003057.3(SLC22A1):c.163G>T (p.Val55Leu)	SLC22A1 (V55L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303798	NM_003057.3(SLC22A1):c.215A>G (p.Tyr72Cys)	SLC22A1 (Y72C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305470	NM_003057.3(SLC22A1):c.238G>A (p.Ala80Thr)	SLC22A1 (A80T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530670	NM_003057.3(SLC22A1):c.341G>A (p.Ser114Asn)	SLC22A1 (S114N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350114	NM_003057.3(SLC22A1):c.391G>A (p.Gly131Ser)	SLC22A1 (G131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243599	NM_003057.3(SLC22A1):c.453T>G (p.Phe151Leu)	SLC22A1 (F151L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739755	NM_003057.3(SLC22A1):c.493G>T (p.Gly165Cys)	SLC22A1 (G165C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2306932	NM_003057.3(SLC22A1):c.503A>G (p.Tyr168Cys)	SLC22A1 (Y168C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 691397	NM_003057.3(SLC22A1):c.523C>T (p.Arg175Cys)	SLC22A1 (R175C)	Single nucleotide variant (missense variant)	Aganglionic megacolon	GUncertain significance
Select item 2302785	NM_003057.3(SLC22A1):c.524G>T (p.Arg175Leu)	SLC22A1 (R175L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270679	NM_003057.3(SLC22A1):c.539T>C (p.Leu180Pro)	SLC22A1 (L180P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789005	NM_003057.3(SLC22A1):c.558C>T (p.Asn186=)	SLC22A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2560647	NM_003057.3(SLC22A1):c.599T>G (p.Met200Arg)	SLC22A1 (M200R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 147065	GRCh38/hg38 6q25.3(chr6:160133052-160158522)x3	LOC126859857, SLC22A1	Copy number gain	See cases	GBenign
Select item 2273015	NM_003057.3(SLC22A1):c.704C>T (p.Thr235Met)	LOC126859857, SLC22A1 (T235M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 739681	NM_003057.3(SLC22A1):c.849G>A (p.Pro283=)	SLC22A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2543359	NM_003057.3(SLC22A1):c.908A>G (p.Asp303Gly)	SLC22A1 (D303G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336504	NM_003057.3(SLC22A1):c.982G>A (p.Glu328Lys)	SLC22A1 (E328K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306977	NM_003057.3(SLC22A1):c.1103T>C (p.Met368Thr)	SLC22A1 (M368T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385946	NM_003057.3(SLC22A1):c.1108G>A (p.Ala370Thr)	SLC22A1 (A370T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235196	NM_003057.3(SLC22A1):c.1187C>T (p.Thr396Ile)	SLC22A1 (T396I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211365	NM_003057.3(SLC22A1):c.1196G>A (p.Arg399His)	SLC22A1 (R399H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1283709	NM_003057.3(SLC22A1):c.1222A>G (p.Met408Val)	SLC22A1 (M408V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2491985	NM_003057.3(SLC22A1):c.1233G>C (p.Leu411Phe)	SLC22A1 (L411F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471505	NM_003057.3(SLC22A1):c.1265T>C (p.Phe422Ser)	SLC22A1 (F422S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403448	NM_003057.3(SLC22A1):c.1276+9_1276+16del	SLC22A1	Microsatellite (splice donor variant)	not specified	GBenign
Select item 2601342	NM_003057.3(SLC22A1):c.1316G>A (p.Arg439Gln)	SLC22A1 (R439Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773205	NM_003057.3(SLC22A1):c.1320G>A (p.Met440Ile)	SLC22A1 (M440I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 774074	NM_003057.3(SLC22A1):c.1392C>T (p.Leu464=)	SLC22A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2527627	NM_003057.3(SLC22A1):c.1412C>T (p.Ser471Phe)	SLC22A1 (S471F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 780667	NM_003057.3(SLC22A1):c.1647A>C (p.Ser549=)	SLC22A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2256297	NM_003057.3(SLC22A1):c.1661C>T (p.Thr554Ile)	SLC22A1 (T554I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	AFDN, AGPAT4 +54 more	Copy number gain	not provided	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 563246	GRCh37/hg19 6q25.3-26(chr6:160524800-161855470)x3	SLC22A3, SLC22A2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563245	GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3	ACAT2, AFDN +49 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

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Items: 58