ClinVar for Gene (Select 57084) - ClinVar

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

Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318986	NM_020346.3(SLC17A6):c.1091C>T (p.Pro364Leu)	SLC17A6 (P364L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318985	NM_020346.3(SLC17A6):c.740A>G (p.Tyr247Cys)	SLC17A6 (Y247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244653	NC_000011.9:g.(?_22215039)_(22647356_?)dup	ANO5, FANCF +1 more	Duplication	Gnathodiaphyseal dysplasia +1 more	GUncertain significance
Select item 3163202	NM_020346.3(SLC17A6):c.835C>T (p.Arg279Cys)	SLC17A6 (R279C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163201	NM_020346.3(SLC17A6):c.805G>C (p.Ala269Pro)	SLC17A6 (A269P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163200	NM_020346.3(SLC17A6):c.181G>T (p.Asp61Tyr)	SLC17A6 (D61Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163199	NM_020346.3(SLC17A6):c.1693G>T (p.Val565Leu)	SLC17A6 (V565L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163198	NM_020346.3(SLC17A6):c.1675G>A (p.Glu559Lys)	SLC17A6 (E559K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163197	NM_020346.3(SLC17A6):c.1569A>T (p.Glu523Asp)	SLC17A6 (E523D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163196	NM_020346.3(SLC17A6):c.1523C>T (p.Pro508Leu)	SLC17A6 (P508L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163195	NM_020346.3(SLC17A6):c.1046G>A (p.Gly349Asp)	SLC17A6 (G349D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063187	GRCh37/hg19 11p14.3(chr11:22207494-22985845)x1	ANO5, CCDC179 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2621244	NM_020346.3(SLC17A6):c.1566T>G (p.Asp522Glu)	SLC17A6 (D522E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537558	NM_020346.3(SLC17A6):c.77A>G (p.Gln26Arg)	SLC17A6 (Q26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536531	NM_020346.3(SLC17A6):c.836G>A (p.Arg279His)	SLC17A6 (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488875	NM_020346.3(SLC17A6):c.40G>A (p.Glu14Lys)	SLC17A6 (E14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485820	NM_020346.3(SLC17A6):c.762G>A (p.Met254Ile)	SLC17A6 (M254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455243	NM_020346.3(SLC17A6):c.323G>A (p.Gly108Asp)	SLC17A6 (G108D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399627	NM_020346.3(SLC17A6):c.1625A>G (p.Lys542Arg)	SLC17A6 (K542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385932	NM_020346.3(SLC17A6):c.1735G>A (p.Val579Ile)	SLC17A6 (V579I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325995	NM_020346.3(SLC17A6):c.47T>G (p.Leu16Arg)	SLC17A6 (L16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304934	NM_020346.3(SLC17A6):c.223A>G (p.Ile75Val)	SLC17A6 (I75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288132	NM_020346.3(SLC17A6):c.300C>G (p.Asn100Lys)	SLC17A6 (N100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287411	NM_020346.3(SLC17A6):c.1539A>C (p.Glu513Asp)	SLC17A6 (E513D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281857	NM_020346.3(SLC17A6):c.169G>T (p.Ala57Ser)	SLC17A6 (A57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273730	NM_020346.3(SLC17A6):c.1484C>T (p.Ala495Val)	SLC17A6 (A495V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264642	NM_020346.3(SLC17A6):c.478C>A (p.Leu160Ile)	SLC17A6 (L160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229874	NM_020346.3(SLC17A6):c.115G>A (p.Glu39Lys)	SLC17A6 (E39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211790	NM_020346.3(SLC17A6):c.880G>A (p.Gly294Ser)	SLC17A6 (G294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205715	NM_020346.3(SLC17A6):c.109A>G (p.Thr37Ala)	SLC17A6 (T37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815418	GRCh37/hg19 11p14.3(chr11:22290214-23743998)x3	ANO5, CCDC179 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815417	GRCh37/hg19 11p14.3(chr11:22240672-22739036)x1	ANO5, FANCF +2 more	Copy number loss	not provided	GUncertain significance
Select item 815416	GRCh37/hg19 11p14.3(chr11:21970753-22457449)x3	ANO5, SLC17A6	Copy number gain	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 785342	NM_020346.3(SLC17A6):c.1652A>G (p.Asn551Ser)	SLC17A6 (N551S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 782212	NM_020346.3(SLC17A6):c.1212C>T (p.Gly404=)	SLC17A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728633	NM_020346.3(SLC17A6):c.1572C>A (p.Leu524=)	SLC17A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 687472	GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1	ANO5, FANCF +2 more	Copy number loss	not provided	GUncertain significance
Select item 687471	GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1	ANO5, FANCF +2 more	Copy number loss	not provided	GUncertain significance
Select item 687459	GRCh37/hg19 11p14.3(chr11:22045818-22472335)x1	ANO5, SLC17A6	Copy number loss	not provided	GUncertain significance
Select item 686827	GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4	ANO5, CCDC179 +5 more	Copy number gain	not provided	GUncertain significance
Select item 560110	Single allele	ANO5, FANCF +11 more	Deletion	not provided	GUncertain significance
Select item 493563	GRCh37/hg19 11p14.3(chr11:22026376-23809369)x3	FANCF, GAS2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 152043	GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1	ANO5, CCDC179 +21 more	Copy number loss	See cases	GUncertain significance
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	LOC126861164, LOC126861165 +49 more	Copy number gain	See cases	GUncertain significance
Select item 58857	GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	ANO5, CCDC179 +38 more	Copy number loss	See cases	GPathogenic
Select item 57152	GRCh38/hg38 11p14.3(chr11:22080659-22389549)x1	ANO5, LOC126861161 +9 more	Copy number loss	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

Links from Gene

Items: 60