ClinVar for Gene (Select 55356) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319078	NM_018420.3(SLC22A15):c.404G>A (p.Arg135His)	SLC22A15 (R135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247900	NC_000001.10:g.(?_116243862)_(116947066_?)dup	ATP1A1, CASQ2 +4 more	Duplication	not provided	GUncertain significance
Select item 3163376	NM_018420.3(SLC22A15):c.592C>T (p.Leu198Phe)	SLC22A15 (L198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163374	NM_018420.3(SLC22A15):c.47A>C (p.Tyr16Ser)	LOC101928977, LOC129931253 +1 more (Y16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163373	NM_018420.3(SLC22A15):c.473T>A (p.Phe158Tyr)	SLC22A15 (F158Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163372	NM_018420.3(SLC22A15):c.26C>A (p.Ala9Glu)	LOC101928977, LOC129931253 +1 more (A9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163371	NM_018420.3(SLC22A15):c.1628C>T (p.Thr543Ile)	LOC126805838, SLC22A15 (T543I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163370	NM_018420.3(SLC22A15):c.1418C>T (p.Thr473Ile)	SLC22A15 (T473I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2623822	NM_018420.3(SLC22A15):c.49C>G (p.Gln17Glu)	LOC101928977, LOC129931253 +1 more (Q17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622187	NM_018420.3(SLC22A15):c.1006A>C (p.Ile336Leu)	SLC22A15 (I336L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568988	NM_018420.3(SLC22A15):c.664C>T (p.Arg222Cys)	SLC22A15 (R222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568929	NM_018420.3(SLC22A15):c.665G>A (p.Arg222His)	SLC22A15 (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541971	NM_018420.3(SLC22A15):c.134C>G (p.Thr45Arg)	SLC22A15 (T45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540031	NM_018420.3(SLC22A15):c.466A>G (p.Asn156Asp)	SLC22A15 (N156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539407	NM_018420.3(SLC22A15):c.562A>C (p.Asn188His)	SLC22A15 (N188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539136	NM_018420.3(SLC22A15):c.550T>C (p.Phe184Leu)	SLC22A15 (F184L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525940	NM_018420.3(SLC22A15):c.560T>C (p.Leu187Pro)	SLC22A15 (L187P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523979	NM_018420.3(SLC22A15):c.1504C>T (p.Arg502Cys)	SLC22A15 (R502C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521877	NM_018420.3(SLC22A15):c.986C>T (p.Ala329Val)	SLC22A15 (A329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509521	NM_018420.3(SLC22A15):c.1556G>T (p.Cys519Phe)	LOC126805838, SLC22A15 (C519F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496371	NM_018420.3(SLC22A15):c.1484A>T (p.Asp495Val)	SLC22A15 (D495V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423983	NC_000001.10:g.(?_116310909)_(116947066_?)dup	ATP1A1, CASQ2 +4 more	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 2385269	NM_018420.3(SLC22A15):c.827A>G (p.Lys276Arg)	SLC22A15 (K276R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2319095	NM_018420.3(SLC22A15):c.580G>T (p.Ala194Ser)	SLC22A15 (A194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319094	NM_018420.3(SLC22A15):c.574G>A (p.Gly192Ser)	SLC22A15 (G192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301310	NM_018420.3(SLC22A15):c.334A>C (p.Ser112Arg)	SLC22A15 (S112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296546	NM_018420.3(SLC22A15):c.43A>G (p.Ile15Val)	LOC101928977, LOC129931253 +1 more (I15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293312	NM_018420.3(SLC22A15):c.970G>A (p.Gly324Ser)	SLC22A15 (G324S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254542	NM_018420.3(SLC22A15):c.443T>C (p.Leu148Pro)	SLC22A15 (L148P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241778	NM_018420.3(SLC22A15):c.216T>A (p.Phe72Leu)	SLC22A15 (F72L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237660	NM_018420.3(SLC22A15):c.1336G>A (p.Gly446Arg)	SLC22A15 (G446R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236437	NM_018420.3(SLC22A15):c.870G>C (p.Arg290Ser)	SLC22A15 (R290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231251	NM_018420.3(SLC22A15):c.223T>G (p.Trp75Gly)	SLC22A15 (W75G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2207464	NM_018420.3(SLC22A15):c.817C>T (p.Arg273Cys)	SLC22A15 (R273C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 565141	GRCh37/hg19 1p13.1(chr1:116510863-116863975)x1	MAB21L3, SLC22A15	Copy number loss	not provided	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441881	GRCh37/hg19 1p13.2-13.1(chr1:116065879-116693221)x3	CASQ2, LINC01649 +4 more	Copy number gain	See cases	GUncertain significance
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58088	GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3	ADAM30, ATP1A1 +140 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 45