ClinVar for Gene (Select 133308) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320315	NM_178833.7(SLC9B2):c.1418A>G (p.Asp473Gly)	SLC9B2 (D411G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320314	NM_178833.7(SLC9B2):c.382G>A (p.Gly128Ser)	SLC9B2 (G128S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320313	NM_178833.7(SLC9B2):c.782A>T (p.Tyr261Phe)	SLC9B2 (Y204F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320312	NM_178833.7(SLC9B2):c.145A>G (p.Ser49Gly)	SLC9B2 (S49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320311	NM_178833.7(SLC9B2):c.628G>C (p.Gly210Arg)	SLC9B2 (G210R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320310	NM_178833.7(SLC9B2):c.1330G>A (p.Gly444Ser)	SLC9B2 (G382S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320309	NM_178833.7(SLC9B2):c.1594G>A (p.Glu532Lys)	SLC9B2 (E532K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320308	NM_178833.7(SLC9B2):c.209A>G (p.Gln70Arg)	SLC9B2 (Q70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246728	NC_000004.11:g.(?_101947022)_(104640852_?)del	BANK1, BDH2 +10 more	Deletion	not provided	GPathogenic
Select item 3165751	NM_178833.7(SLC9B2):c.895A>G (p.Thr299Ala)	SLC9B2 (T237A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165750	NM_178833.7(SLC9B2):c.850A>C (p.Thr284Pro)	SLC9B2 (T227P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165749	NM_178833.7(SLC9B2):c.653C>T (p.Thr218Ile)	SLC9B2 (T218I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165748	NM_178833.7(SLC9B2):c.632C>G (p.Pro211Arg)	SLC9B2 (P154R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165747	NM_178833.7(SLC9B2):c.539C>T (p.Ala180Val)	SLC9B2 (A123V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165746	NM_178833.7(SLC9B2):c.515G>T (p.Trp172Leu)	SLC9B2 (W172L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165745	NM_178833.7(SLC9B2):c.202C>T (p.His68Tyr)	SLC9B2 (H68Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165744	NM_178833.7(SLC9B2):c.1126A>G (p.Met376Val)	SLC9B2 (M319V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165743	NM_178833.7(SLC9B2):c.1082G>A (p.Gly361Glu)	SLC9B2 (G299E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2616459	NM_178833.7(SLC9B2):c.1438G>A (p.Glu480Lys)	SLC9B2 (E418K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599870	NM_178833.7(SLC9B2):c.1280T>C (p.Ile427Thr)	SLC9B2 (I370T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593181	NM_178833.7(SLC9B2):c.1273G>A (p.Val425Ile)	SLC9B2 (V363I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529523	NM_178833.7(SLC9B2):c.955G>A (p.Val319Ile)	SLC9B2 (V257I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515666	NM_178833.7(SLC9B2):c.979T>C (p.Phe327Leu)	SLC9B2 (F265L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494414	NM_178833.7(SLC9B2):c.212G>T (p.Arg71Ile)	SLC9B2 (R71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461125	NM_178833.7(SLC9B2):c.905A>G (p.Asn302Ser)	SLC9B2 (N302S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445492	NC_000004.11:g.(?_101947022)_(107268849_?)dup	AIMP1, ARHGEF38 +19 more	Duplication	not provided	GUncertain significance
Select item 2424810	NC_000004.11:g.(?_101947022)_(106061534_?)del	TACR3, CISD2 +11 more	Deletion	not provided	GPathogenic
Select item 2408768	NM_178833.7(SLC9B2):c.989G>A (p.Arg330His)	SLC9B2 (R268H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386385	NM_178833.7(SLC9B2):c.1384A>G (p.Thr462Ala)	SLC9B2 (T462A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367794	NM_178833.7(SLC9B2):c.185C>T (p.Thr62Ile)	SLC9B2 (T62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328308	NM_178833.7(SLC9B2):c.307T>C (p.Ser103Pro)	SLC9B2 (S103P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317651	NM_178833.7(SLC9B2):c.203A>T (p.His68Leu)	SLC9B2 (H68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274823	NM_178833.7(SLC9B2):c.242A>G (p.His81Arg)	SLC9B2 (H81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270178	NM_178833.7(SLC9B2):c.911T>C (p.Leu304Pro)	SLC9B2 (L242P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240792	NM_178833.7(SLC9B2):c.1350G>T (p.Lys450Asn)	SLC9B2 (K393N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238891	NM_178833.7(SLC9B2):c.343C>G (p.Leu115Val)	SLC9B2 (L115V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221588	NM_178833.7(SLC9B2):c.850A>T (p.Thr284Ser)	SLC9B2 (T227S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703532	GRCh37/hg19 4q24(chr4:102851823-104641864)	SLC39A8, SLC9B1 +9 more	Copy number loss	Immunodeficiency, common variable, 12	GLikely pathogenic
Select item 1456123	NC_000004.11:g.(?_101947022)_(104640832_?)del	BANK1, BDH2 +10 more	Deletion	Beta-D-mannosidosis	GPathogenic
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 814592	GRCh37/hg19 4q24(chr4:103865132-105720367)x1	TACR3, SLC9B2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 787270	NM_178833.7(SLC9B2):c.1137C>A (p.Thr379=)	SLC9B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775219	NM_178833.7(SLC9B2):c.1243C>G (p.Pro415Ala)	SLC9B2 (P358A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 712551	NM_178833.7(SLC9B2):c.801C>T (p.Val267=)	SLC9B2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 562949	GRCh37/hg19 4q24(chr4:103846070-104693179)x3	BDH2, SLC9B1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 55