SLC17A6[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	ANO3, ANO3-AS1 +49 more	Copy number gain	See cases	GUncertain significance
Select item 57152	GRCh38/hg38 11p14.3(chr11:22080659-22389549)x1	ANO5, LOC126861161 +9 more	Copy number loss	See cases	GPathogenic
Select item 58857	GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	ANO5, CCDC179 +38 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 560110	Single allele	ANO5, FANCF +11 more	Deletion	not provided	GUncertain significance
Select item 2488875	NM_020346.3(SLC17A6):c.40G>A (p.Glu14Lys)	SLC17A6 (E14K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325995	NM_020346.3(SLC17A6):c.47T>G (p.Leu16Arg)	SLC17A6 (L16R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537558	NM_020346.3(SLC17A6):c.77A>G (p.Gln26Arg)	SLC17A6 (Q26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205715	NM_020346.3(SLC17A6):c.109A>G (p.Thr37Ala)	SLC17A6 (T37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229874	NM_020346.3(SLC17A6):c.115G>A (p.Glu39Lys)	SLC17A6 (E39K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281857	NM_020346.3(SLC17A6):c.169G>T (p.Ala57Ser)	SLC17A6 (A57S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304934	NM_020346.3(SLC17A6):c.223A>G (p.Ile75Val)	SLC17A6 (I75V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288132	NM_020346.3(SLC17A6):c.300C>G (p.Asn100Lys)	SLC17A6 (N100K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455243	NM_020346.3(SLC17A6):c.323G>A (p.Gly108Asp)	SLC17A6 (G108D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264642	NM_020346.3(SLC17A6):c.478C>A (p.Leu160Ile)	SLC17A6 (L160I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485820	NM_020346.3(SLC17A6):c.762G>A (p.Met254Ile)	SLC17A6 (M254I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536531	NM_020346.3(SLC17A6):c.836G>A (p.Arg279His)	SLC17A6 (R279H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211790	NM_020346.3(SLC17A6):c.880G>A (p.Gly294Ser)	SLC17A6 (G294S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782212	NM_020346.3(SLC17A6):c.1212C>T (p.Gly404=)	SLC17A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2273730	NM_020346.3(SLC17A6):c.1484C>T (p.Ala495Val)	SLC17A6 (A495V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287411	NM_020346.3(SLC17A6):c.1539A>C (p.Glu513Asp)	SLC17A6 (E513D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621244	NM_020346.3(SLC17A6):c.1566T>G (p.Asp522Glu)	SLC17A6 (D522E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 728633	NM_020346.3(SLC17A6):c.1572C>A (p.Leu524=)	SLC17A6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2399627	NM_020346.3(SLC17A6):c.1625A>G (p.Lys542Arg)	SLC17A6 (K542R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785342	NM_020346.3(SLC17A6):c.1652A>G (p.Asn551Ser)	SLC17A6 (N551S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2385932	NM_020346.3(SLC17A6):c.1735G>A (p.Val579Ile)	SLC17A6 (V579I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ABCC8, ADM +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	APOA1, APOA4 +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	MYOD1, NAV2 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	GALNT18, SAA1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ABCC8, ADM +343 more	Copy number gain	not provided	GPathogenic
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 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	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ABCC8, ABTB2 +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

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: 49