SLC22A17[gene] - ClinVar

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

Search results

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2520023	NM_016609.7(SLC22A17):c.1828C>G (p.Leu610Val)	SLC22A17 (L281V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386511	NM_016609.7(SLC22A17):c.1811G>A (p.Cys604Tyr)	SLC22A17 (C604Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327597	NM_016609.7(SLC22A17):c.1771C>T (p.Arg591Cys)	SLC22A17 (R262C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611589	NM_016609.7(SLC22A17):c.1744A>G (p.Ser582Gly)	SLC22A17 (S582G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361052	NM_016609.7(SLC22A17):c.1672C>A (p.Arg558Ser)	SLC22A17 (R558S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484228	NM_016609.7(SLC22A17):c.1576C>T (p.Leu526Phe)	SLC22A17 (L544F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594736	NM_016609.7(SLC22A17):c.1511C>T (p.Ala504Val)	SLC22A17 (A175V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489291	NM_016609.7(SLC22A17):c.1510G>A (p.Ala504Thr)	SLC22A17 (A175T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320512	NM_016609.7(SLC22A17):c.1495+53A>T	SLC22A17 (R516S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484347	NM_016609.7(SLC22A17):c.1454T>C (p.Leu485Pro)	SLC22A17 (L485P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256671	NM_016609.7(SLC22A17):c.1393T>A (p.Phe465Ile)	SLC22A17 (F136I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621994	NM_016609.7(SLC22A17):c.1298G>A (p.Arg433His)	SLC22A17 (R104H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457474	NM_016609.7(SLC22A17):c.1259T>C (p.Leu420Pro)	SLC22A17 (L420P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369077	NM_016609.7(SLC22A17):c.1252A>C (p.Asn418His)	SLC22A17 (N89H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250647	NM_016609.7(SLC22A17):c.1114G>A (p.Glu372Lys)	SLC22A17 (E372K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224002	NM_016609.7(SLC22A17):c.1072C>T (p.Arg358Trp)	SLC22A17 (R358W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404120	NM_016609.7(SLC22A17):c.962C>G (p.Ser321Cys)	SLC22A17 (S321C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463649	NM_016609.7(SLC22A17):c.916G>A (p.Val306Met)	SLC22A17 (V306M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463677	NM_016609.7(SLC22A17):c.835G>A (p.Val279Ile)	SLC22A17 (V279I)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2548729	NM_016609.7(SLC22A17):c.799G>A (p.Ala267Thr)	SLC22A17 (A267T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 783044	NM_016609.7(SLC22A17):c.720G>A (p.Gly240=)	SLC22A17	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign/Likely benign
Select item 2408319	NM_016609.7(SLC22A17):c.718G>A (p.Gly240Arg)	SLC22A17 (G240R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2462410	NM_016609.7(SLC22A17):c.616G>A (p.Asp206Asn)	SLC22A17 (D206N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 774332	NM_016609.7(SLC22A17):c.594C>T (p.Ile198=)	SLC22A17	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2607561	NM_016609.7(SLC22A17):c.572C>T (p.Pro191Leu)	SLC22A17 (P191L)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2514485	NM_016609.7(SLC22A17):c.415G>A (p.Glu139Lys)	SLC22A17 (E139K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2591451	NM_016609.7(SLC22A17):c.397C>T (p.Pro133Ser)	SLC22A17 (P133S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476297	NM_016609.7(SLC22A17):c.394C>T (p.Pro132Ser)	SLC22A17 (P132S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2644094	NM_016609.7(SLC22A17):c.108C>T (p.Thr36=)	SLC22A17	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2424248	NC_000014.8:g.(?_23586696)_(23902941_?)del	BCL2L2, BCL2L2-PABPN1 +14 more	Deletion	Specific granule deficiency	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527805	GRCh37/hg19 14q11.2(chr14:23590841-23823265)	BCL2L2, BCL2L2-PABPN1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	NGDN, OR10G2 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	CIDEB, MIR208A +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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: 52