"Illumina Laboratory Services, Illumina"[submitter] AND "STX16"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 339029	NM_001001433.2(STX16):c.-744T>C	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339030	NM_001001433.3(STX16):c.-707G>A	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339031	NM_001001433.3(STX16):c.-693G>A	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339032	NM_001001433.3(STX16):c.-673C>G	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 896804	NM_001001433.3(STX16):c.-621G>A	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339033	NM_001001433.3(STX16):c.-550G>A	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339034	NM_001001433.3(STX16):c.-534C>G	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 896805	NM_001001433.3(STX16):c.-494G>A	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339035	NM_001001433.3(STX16):c.-465T>G	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339036	NM_001001433.3(STX16):c.-464G>A	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GBenign
Select item 897287	NM_001001433.3(STX16):c.-421C>G	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339037	NM_001001433.3(STX16):c.-409G>A	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339038	NM_001001433.3(STX16):c.-377G>A	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339039	NM_001001433.3(STX16):c.-355C>T	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339040	NM_001001433.3(STX16):c.-350C>A	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339041	NM_001001433.3(STX16):c.-160G>A	STX16, STX16-NPEPL1	Single nucleotide variant (5 prime UTR variant +2 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339042	NM_001001433.3(STX16):c.-63T>C	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 897288	NM_001001433.3(STX16):c.-25A>C	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +2 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339043	NM_001001433.3(STX16):c.106C>A (p.Pro36Thr)	STX16, STX16-NPEPL1 (P36T)	Single nucleotide variant (non-coding transcript variant +3 more)	Pseudohypoparathyroidism type 1B +1 more	GBenign/Likely benign
Select item 339044	NM_001001433.3(STX16):c.132+15G>A	STX16-NPEPL1, STX16	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1B +1 more	GBenign
Select item 339045	NM_001001433.3(STX16):c.141C>T (p.Asp47=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +3 more)	Pseudohypoparathyroidism type 1B +1 more	GBenign/Likely benign
Select item 339046	NM_001001433.3(STX16):c.217C>T (p.Arg73Trp)	STX16-NPEPL1, STX16 (R73W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 898459	NM_001001433.3(STX16):c.315G>A (p.Lys105=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339047	NM_001001433.3(STX16):c.394-7C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339048	NM_001001433.3(STX16):c.443G>A (p.Arg148Gln)	STX16, STX16-NPEPL1 (R148Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GBenign
Select item 898460	NM_001001433.3(STX16):c.454G>A (p.Glu152Lys)	STX16, STX16-NPEPL1 (E131K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339049	NM_001001433.3(STX16):c.456G>T (p.Glu152Asp)	STX16, STX16-NPEPL1 (E152D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 895470	NM_001001433.3(STX16):c.484G>T (p.Val162Leu)	STX16, STX16-NPEPL1 (V145L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339050	NM_001001433.3(STX16):c.540G>A (p.Gln180=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 339051	NM_001001433.3(STX16):c.557-7G>C	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1B +1 more	GBenign
Select item 339052	NM_001001433.3(STX16):c.569G>A (p.Arg190Gln)	STX16, STX16-NPEPL1 (R190Q +4 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GBenign
Select item 339053	NM_001001433.3(STX16):c.585G>A (p.Gln195=)	STX16-NPEPL1, STX16	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GBenign/Likely benign
Select item 895471	NM_001001433.3(STX16):c.593T>C (p.Phe198Ser)	STX16, STX16-NPEPL1 (F177S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 723495	NM_001001433.3(STX16):c.594C>T (p.Phe198=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GBenign/Likely benign
Select item 339054	NM_001001433.3(STX16):c.644A>T (p.His215Leu)	STX16, STX16-NPEPL1 (H215L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 896873	NM_001001433.3(STX16):c.706C>T (p.Arg236Trp)	STX16, STX16-NPEPL1 (R219W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339055	NM_001001433.3(STX16):c.716A>G (p.Glu239Gly)	STX16, STX16-NPEPL1 (E239G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 896874	NM_001001433.3(STX16):c.781A>C (p.Ile261Leu)	STX16, STX16-NPEPL1 (I240L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 896875	NM_001001433.3(STX16):c.875C>T (p.Ala292Val)	STX16, STX16-NPEPL1 (A275V +4 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339056	NM_001001433.3(STX16):c.904A>G (p.Met302Val)	STX16, STX16-NPEPL1 (M302V +4 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339057	NM_001001433.3(STX16):c.907C>G (p.Leu303Val)	STX16, STX16-NPEPL1 (L303V +4 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339058	NM_001001433.3(STX16):c.912G>C (p.Val304=)	STX16, STX16-NPEPL1	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 897373	NM_001001433.3(STX16):c.*17G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GLikely benign
Select item 339059	NM_001001433.3(STX16):c.*56T>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339060	NM_001001433.3(STX16):c.*70G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339061	NM_001001433.3(STX16):c.*114C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339062	NM_001001433.3(STX16):c.*173C>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339063	NM_001001433.3(STX16):c.*183G>T	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 897374	NM_001001433.3(STX16):c.*217G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339064	NM_001001433.3(STX16):c.*270T>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339065	NM_001001433.3(STX16):c.*436G>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339066	NM_001001433.3(STX16):c.*441C>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 898529	NM_001001433.3(STX16):c.*539G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 898530	NM_001001433.3(STX16):c.*558T>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 898531	NM_001001433.3(STX16):c.*648A>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339067	NM_001001433.3(STX16):c.651_653dup	STX16, STX16-NPEPL1	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 339068	NM_001001433.3(STX16):c.*952C>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339069	NM_001001433.3(STX16):c.*1049G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 898532	NM_001001433.3(STX16):c.*1156G>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339070	NM_001001433.3(STX16):c.*1160G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 895541	NM_001001433.3(STX16):c.*1186C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 895542	NM_001001433.3(STX16):c.*1195A>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339071	NM_001001433.3(STX16):c.*1203T>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 895543	NM_001001433.3(STX16):c.*1223A>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339072	NM_001001433.3(STX16):c.*1232A>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 895544	NM_001001433.3(STX16):c.*1312A>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339073	NM_001001433.3(STX16):c.*1378A>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339074	NM_001001433.3(STX16):c.*1488A>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339075	NM_001001433.3(STX16):c.*1547C>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 896944	NM_001001433.3(STX16):c.*1565C>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339076	NM_001001433.3(STX16):c.*1581G>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339077	NM_001001433.3(STX16):c.*1652G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 896945	NM_001001433.3(STX16):c.*1676T>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339078	NM_001001433.3(STX16):c.*1725A>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 339079	NM_001001433.3(STX16):c.*1746C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 896946	NM_001001433.3(STX16):c.*1747G>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339080	NM_001001433.3(STX16):c.*1764C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339081	NM_001001433.3(STX16):c.*1785A>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339082	NM_001001433.3(STX16):c.*1790A>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339083	NM_001001433.3(STX16):c.*1797C>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339084	NM_001001433.3(STX16):c.*1863C>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 897434	NM_001001433.3(STX16):c.*1886T>C	STX16-NPEPL1, STX16	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 897435	NM_001001433.3(STX16):c.*1896G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339085	NM_001001433.3(STX16):c.*1898A>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339086	NM_001001433.3(STX16):c.*1899C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339087	NM_001001433.3(STX16):c.*1928C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 898601	NM_001001433.3(STX16):c.*1957T>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 898602	NM_001001433.3(STX16):c.*1997A>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339088	NM_001001433.3(STX16):c.*2016G>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339089	NM_001001433.3(STX16):c.*2057G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339090	NM_001001433.3(STX16):c.*2060T>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339091	NM_001001433.3(STX16):c.*2080G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 895615	NM_001001433.3(STX16):c.*2095C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339092	NM_001001433.3(STX16):c.*2137C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 895616	NM_001001433.3(STX16):c.*2138G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 895617	NM_001001433.3(STX16):c.*2152G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339093	NM_001001433.3(STX16):c.*2183G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 339094	NM_001001433.3(STX16):c.*2199C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 897022	NM_001001433.3(STX16):c.*2276G>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 339095	NM_001001433.3(STX16):c.*2293G>A	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign

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