SLC5A11[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 151527	GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3	APOBR, AQP8 +287 more	Copy number gain	See cases	GLikely pathogenic
Select item 58086	GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3	LOC130058727, LOC130058728 +287 more	Copy number gain	See cases	GPathogenic
Select item 58734	GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1	AQP8, ARHGAP17 +209 more	Copy number loss	See cases	GPathogenic
Select item 58099	GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3	OTOA, PALB2 +280 more	Copy number gain	See cases	GPathogenic
Select item 146289	GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3	APOBR, AQP8 +233 more	Copy number gain	See cases	GLikely pathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 3165209	NM_001352248.3(SLC5A11):c.65A>T (p.Lys22Met)	SLC5A11 (K22M)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2470418	NM_001352248.3(SLC5A11):c.218C>T (p.Ser73Phe)	SLC5A11 (S9F +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3165206	NM_001352248.3(SLC5A11):c.238G>A (p.Gly80Arg)	SLC5A11 (G16R +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3165207	NM_001352248.3(SLC5A11):c.404G>A (p.Arg135His)	SLC5A11 (R25H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165208	NM_001352248.3(SLC5A11):c.415A>T (p.Ile139Phe)	SLC5A11 (I139F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508513	NM_001352248.3(SLC5A11):c.575C>T (p.Thr192Met)	SLC5A11 (T179M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386974	NM_001352248.3(SLC5A11):c.623C>T (p.Thr208Met)	SLC5A11 (T144M +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408057	NM_001352248.3(SLC5A11):c.721G>A (p.Ala241Thr)	SLC5A11 (A177T +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2356125	NM_001352248.3(SLC5A11):c.761G>A (p.Arg254Gln)	SLC5A11 (R254Q +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209270	NM_001352248.3(SLC5A11):c.791C>T (p.Pro264Leu)	SLC5A11 (P229L +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165210	NM_001352248.3(SLC5A11):c.820G>T (p.Val274Phe)	SLC5A11 (V212F +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2374897	NM_001352248.3(SLC5A11):c.838A>G (p.Ile280Val)	SLC5A11 (I245V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320025	NM_001352248.3(SLC5A11):c.863C>T (p.Thr288Met)	SLC5A11 (T189M +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358955	NM_001352248.3(SLC5A11):c.871G>A (p.Val291Met)	SLC5A11 (G195D +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165211	NM_001352248.3(SLC5A11):c.876T>G (p.Ile292Met)	SLC5A11 (I222M +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382040	NM_001352248.3(SLC5A11):c.982A>G (p.Met328Val)	SLC5A11 (M258V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396450	NM_001352248.3(SLC5A11):c.1078G>A (p.Ala360Thr)	SLC5A11 (A250T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165199	NM_001352248.3(SLC5A11):c.1079C>T (p.Ala360Val)	SLC5A11 (A250V +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3165200	NM_001352248.3(SLC5A11):c.1101A>C (p.Glu367Asp)	SLC5A11 (E257D +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292288	NM_001352248.3(SLC5A11):c.1157T>G (p.Met386Arg)	SLC5A11 (M351R +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2540926	NM_001352248.3(SLC5A11):c.1185T>G (p.Ser395Arg)	SLC5A11 (S296R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320024	NM_001352248.3(SLC5A11):c.1226G>A (p.Arg409Gln)	SLC5A11 (R253Q +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340195	NM_001352248.3(SLC5A11):c.1322C>A (p.Ala441Asp)	SLC5A11 (A322D +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615149	NM_001352248.3(SLC5A11):c.1382C>T (p.Pro461Leu)	SLC5A11 (P362L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165201	NM_001352248.3(SLC5A11):c.1388C>T (p.Ala463Val)	SLC5A11 (A371V +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226898	NM_001352248.3(SLC5A11):c.1436G>A (p.Gly479Asp)	SLC5A11 (G352D +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165202	NM_001352248.3(SLC5A11):c.1471G>A (p.Gly491Ser)	SLC5A11 (G372S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283385	NM_001352248.3(SLC5A11):c.1493A>G (p.Asp498Gly)	SLC5A11 (D399G +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165203	NM_001352248.3(SLC5A11):c.1504G>A (p.Val502Met)	SLC5A11 (V346M +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320028	NM_001352248.3(SLC5A11):c.1664C>T (p.Thr555Ile)	SLC5A11 (T463I +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165204	NM_001352248.3(SLC5A11):c.1679A>G (p.His560Arg)	SLC5A11 (H441R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380322	NM_001352248.3(SLC5A11):c.1687G>A (p.Val563Met)	SLC5A11 (V436M +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646338	NM_001352248.3(SLC5A11):c.1762AGC[6] (p.Ser592_Val593insSer)	SLC5A11	Microsatellite (inframe_insertion +2 more)	not provided	GLikely benign
Select item 2296919	NM_001352248.3(SLC5A11):c.1767C>A (p.Ser589Arg)	SLC5A11 (S554R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356691	NM_001352248.3(SLC5A11):c.1786G>A (p.Glu596Lys)	SLC5A11 (E569K +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345638	NM_001352248.3(SLC5A11):c.1838A>C (p.Lys613Thr)	SLC5A11 (K514T +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325814	NM_001352248.3(SLC5A11):c.1852G>C (p.Val618Leu)	SLC5A11 (V526L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280447	NM_001352248.3(SLC5A11):c.1858G>T (p.Ala620Ser)	SLC5A11 (A493S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466525	NM_001352248.3(SLC5A11):c.1883A>G (p.Gln628Arg)	SLC5A11 (Q472R +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373835	NM_001352248.3(SLC5A11):c.1907C>T (p.Pro636Leu)	SLC5A11 (P509L +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320027	NM_001352248.3(SLC5A11):c.1934C>T (p.Ser645Phe)	SLC5A11 (S489F +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320026	NM_001352248.3(SLC5A11):c.2014G>A (p.Gly672Ser)	SLC5A11 (G553S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 443086	GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4	APOBR, AQP8 +44 more	Copy number gain	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 74