SLC9C2[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	LOC126805925, LOC126805926 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	ANKRD45, CENPL +84 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	ANKRD45, CACYBP +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 2330985	NM_178527.4(SLC9C2):c.3050T>A (p.Phe1017Tyr)	SLC9C2 (F1017Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467340	NM_178527.4(SLC9C2):c.2951C>T (p.Ala984Val)	SLC9C2 (A984V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347239	NM_178527.4(SLC9C2):c.2885T>C (p.Val962Ala)	SLC9C2 (V962A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2355007	NM_178527.4(SLC9C2):c.2867G>A (p.Arg956His)	SLC9C2 (R956H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488816	NM_178527.4(SLC9C2):c.2656G>A (p.Ala886Thr)	SLC9C2 (A886T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377544	NM_178527.4(SLC9C2):c.2654T>A (p.Leu885His)	SLC9C2 (L885H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593542	NM_178527.4(SLC9C2):c.2581A>G (p.Ile861Val)	SLC9C2 (I861V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605495	NM_178527.4(SLC9C2):c.2518C>T (p.Leu840Phe)	SLC9C2 (L840F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270987	NM_178527.4(SLC9C2):c.2444C>T (p.Ala815Val)	SLC9C2 (A815V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373053	NM_178527.4(SLC9C2):c.2426G>A (p.Arg809Gln)	SLC9C2 (R809Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342104	NM_178527.4(SLC9C2):c.2294T>A (p.Val765Asp)	SLC9C2 (V765D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262767	NM_178527.4(SLC9C2):c.2275C>A (p.Leu759Ile)	SLC9C2 (L759I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320799	NM_178527.4(SLC9C2):c.2183T>A (p.Ile728Lys)	SLC9C2 (I728K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492265	NM_178527.4(SLC9C2):c.2176A>T (p.Ile726Leu)	SLC9C2 (I726L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295172	NM_178527.4(SLC9C2):c.2101C>T (p.Leu701Phe)	SLC9C2 (L701F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301208	NM_178527.4(SLC9C2):c.1891A>G (p.Met631Val)	SLC9C2 (M631V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230262	NM_178527.4(SLC9C2):c.1717A>G (p.Lys573Glu)	SLC9C2 (K573E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429047	NM_178527.4(SLC9C2):c.1666A>G (p.Ile556Val)	SLC9C2 (I556V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2510292	NM_178527.4(SLC9C2):c.1577G>C (p.Arg526Pro)	SLC9C2 (R526P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256356	NM_178527.4(SLC9C2):c.1478A>G (p.His493Arg)	SLC9C2 (H493R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512234	NM_178527.4(SLC9C2):c.1357C>A (p.Gln453Lys)	SLC9C2 (Q453K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745965	NM_178527.4(SLC9C2):c.1210C>A (p.Gln404Lys)	SLC9C2 (Q404K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2518634	NM_178527.4(SLC9C2):c.1065A>C (p.Leu355Phe)	SLC9C2 (L355F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613174	NM_178527.4(SLC9C2):c.1001C>G (p.Thr334Ser)	SLC9C2 (T334S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2621318	NM_178527.4(SLC9C2):c.878C>T (p.Pro293Leu)	SLC9C2 (P293L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234431	NM_178527.4(SLC9C2):c.865T>G (p.Leu289Val)	SLC9C2 (L289V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524185	NM_178527.4(SLC9C2):c.686T>C (p.Ile229Thr)	SLC9C2 (I229T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358384	NM_178527.4(SLC9C2):c.415G>A (p.Val139Ile)	SLC9C2 (V139I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304889	NM_178527.4(SLC9C2):c.173C>T (p.Thr58Met)	SLC9C2 (T58M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366268	NM_178527.4(SLC9C2):c.130C>T (p.Leu44Phe)	SLC9C2 (L44F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2256031	NM_178527.4(SLC9C2):c.107G>C (p.Cys36Ser)	SLC9C2 (C36S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297489	NM_178527.4(SLC9C2):c.16T>A (p.Trp6Arg)	SLC9C2 (W6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1409896	NC_000001.10:g.(?_171605065)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1367461	NC_000001.10:g.(?_171605065)_(173962123_?)del	ANKRD45, C1orf105 +22 more	Deletion	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 979309	GRCh37/hg19 1q25.1(chr1:173377818-173495656)x1	SLC9C2, PRDX6	Copy number loss	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 635908	Single allele	GAS5, RC3H1 +8 more	Deletion	Growth abnormality	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic

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Items: 67