ClinVar for Gene (Select 100534593) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065825	NM_001001433.3(STX16):c.557G>T (p.Arg186Leu)	STX16, STX16-NPEPL1 (R133L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 3047152	NM_001001433.3(STX16):c.432G>A (p.Pro144=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	STX16-related condition	GLikely benign
Select item 2914792	NM_001001433.3(STX16):c.751A>C (p.Asn251His)	STX16, STX16-NPEPL1 (N251H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2911244	NM_001001433.3(STX16):c.417C>T (p.Ala139=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2909351	NM_001001433.3(STX16):c.534C>T (p.His178=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2877348	NM_001001433.3(STX16):c.102dup (p.Ser35fs)	STX16, STX16-NPEPL1 (S35fs)	Duplication (non-coding transcript variant +3 more)	not provided	GUncertain significance
Select item 2876830	NM_001001433.3(STX16):c.394-19C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872953	NM_001001433.3(STX16):c.649-13del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2872225	NM_001001433.3(STX16):c.132+14C>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870277	NM_001001433.3(STX16):c.556+11C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742698	NM_001001433.3(STX16):c.763A>G (p.Arg255Gly)	STX16, STX16-NPEPL1 (R255G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2713733	NM_001001433.3(STX16):c.260A>G (p.Tyr87Cys)	STX16, STX16-NPEPL1 (Y66C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2699116	NM_001001433.3(STX16):c.636T>C (p.Thr212=)	STX16, STX16-NPEPL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652433	NM_001204872.2(NPEPL1):c.-41-261G>A	NPEPL1, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2634542	NM_001001433.3(STX16):c.418G>A (p.Val140Met)	STX16, STX16-NPEPL1 (V119M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	STX16-related condition	GUncertain significance
Select item 2619197	NM_024663.4(NPEPL1):c.1435G>T (p.Gly479Cys)	NPEPL1, STX16-NPEPL1 (G479C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601853	NM_024663.4(NPEPL1):c.569A>G (p.Asn190Ser)	NPEPL1, STX16-NPEPL1 (N162S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542445	NM_024663.4(NPEPL1):c.767C>G (p.Ala256Gly)	NPEPL1, STX16-NPEPL1 (A256G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536552	NM_024663.4(NPEPL1):c.1310A>T (p.Asp437Val)	NPEPL1, STX16-NPEPL1 (D389V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523651	NM_001001433.3(STX16):c.383A>C (p.Glu128Ala)	STX16, STX16-NPEPL1 (E124A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514899	NM_024663.4(NPEPL1):c.424C>T (p.Arg142Trp)	NPEPL1, STX16-NPEPL1 (R142W +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514453	NM_024663.4(NPEPL1):c.1136C>T (p.Thr379Ile)	NPEPL1, STX16-NPEPL1 (T379I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461854	NM_024663.4(NPEPL1):c.335T>C (p.Val112Ala)	NPEPL1, STX16-NPEPL1 (V84A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443386	NM_001001433.3(STX16):c.873+1_873+2dup	STX16, STX16-NPEPL1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2404222	NM_024663.4(NPEPL1):c.1154C>T (p.Ala385Val)	STX16-NPEPL1, NPEPL1 (A337V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399312	NM_001001433.3(STX16):c.44A>G (p.Asn15Ser)	STX16, STX16-NPEPL1 (N15S)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2396132	NM_024663.4(NPEPL1):c.532G>A (p.Val178Met)	STX16-NPEPL1, NPEPL1 (V130M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382853	NM_024663.4(NPEPL1):c.34G>A (p.Ala12Thr)	STX16-NPEPL1, NPEPL1 (A12T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373111	NM_001001433.3(STX16):c.422A>G (p.Gln141Arg)	STX16-NPEPL1, STX16 (Q120R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362739	NM_001001433.3(STX16):c.415G>A (p.Ala139Thr)	STX16, STX16-NPEPL1 (A118T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355039	NM_024663.4(NPEPL1):c.626G>A (p.Gly209Glu)	NPEPL1, STX16-NPEPL1 (G181E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345591	NM_024663.4(NPEPL1):c.112C>T (p.His38Tyr)	LOC130066260, NPEPL1 +1 more (H38Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316465	NM_001001433.3(STX16):c.149C>T (p.Ala50Val)	STX16-NPEPL1, STX16 (A33V +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2313330	NM_024663.4(NPEPL1):c.1121C>T (p.Ala374Val)	STX16-NPEPL1, NPEPL1 (A346V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312740	NM_024663.4(NPEPL1):c.868G>A (p.Val290Ile)	STX16-NPEPL1, NPEPL1 (V242I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2312105	NM_001001433.3(STX16):c.485T>A (p.Val162Glu)	STX16-NPEPL1, STX16 (V109E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2303040	NM_024663.4(NPEPL1):c.169A>G (p.Ser57Gly)	NPEPL1, STX16-NPEPL1 (S9G +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299884	NM_024663.4(NPEPL1):c.386G>A (p.Arg129Gln)	STX16-NPEPL1, NPEPL1 (R129Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298181	NM_024663.4(NPEPL1):c.59G>C (p.Arg20Pro)	LOC130066260, NPEPL1 +1 more (R20P)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292563	NM_024663.4(NPEPL1):c.1087G>A (p.Asp363Asn)	NPEPL1, STX16-NPEPL1 (D363N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271603	NM_024663.4(NPEPL1):c.529G>A (p.Gly177Ser)	NPEPL1, STX16-NPEPL1 (G177S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271198	NM_024663.4(NPEPL1):c.1057G>A (p.Val353Met)	NPEPL1, STX16-NPEPL1 (V305M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265439	NM_024663.4(NPEPL1):c.895A>G (p.Lys299Glu)	STX16-NPEPL1, NPEPL1 (K251E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239019	NM_024663.4(NPEPL1):c.571G>A (p.Glu191Lys)	STX16-NPEPL1, NPEPL1 (E163K +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235200	NM_001001433.3(STX16):c.451T>C (p.Ser151Pro)	STX16, STX16-NPEPL1 (S130P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210311	NM_024663.4(NPEPL1):c.536G>A (p.Arg179Gln)	STX16-NPEPL1, NPEPL1 (R131Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208928	NM_024663.4(NPEPL1):c.274G>A (p.Ala92Thr)	STX16-NPEPL1, NPEPL1 (A44T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208059	NM_024663.4(NPEPL1):c.479A>G (p.Asn160Ser)	STX16-NPEPL1, NPEPL1 (N160S +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2186473	NM_001001433.3(STX16):c.973C>T (p.Arg325Ter)	STX16, STX16-NPEPL1 (R321* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2180497	NM_001001433.3(STX16):c.157C>T (p.Arg53Cys)	STX16, STX16-NPEPL1 (R53C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2173240	NM_001001433.3(STX16):c.834C>G (p.Ser278=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2167372	NM_001001433.3(STX16):c.201G>A (p.Ala67=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2155194	NM_001001433.3(STX16):c.958G>A (p.Val320Ile)	STX16, STX16-NPEPL1 (V303I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2136024	NM_001001433.3(STX16):c.155_158del (p.Asp52fs)	STX16, STX16-NPEPL1 (D52fs +3 more)	Deletion (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2108506	NM_001001433.3(STX16):c.253-11C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018671	NM_001001433.3(STX16):c.450C>T (p.Cys150=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1982729	NM_001001433.3(STX16):c.648+4C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1974497	NM_001001433.3(STX16):c.394-12T>C	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973591	NM_001001433.3(STX16):c.792+14C>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1973063	NM_001001433.3(STX16):c.133-18G>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971473	NM_001001433.3(STX16):c.144+16T>C	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1961213	NM_001001433.3(STX16):c.535G>A (p.Ala179Thr)	STX16, STX16-NPEPL1 (A162T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1295023	NM_001001433.3(STX16):c.792+140_792+151del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GBenign
Select item 1290801	NM_001001433.3(STX16):c.792+140_792+145del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GBenign
Select item 1289775	NM_001001433.3(STX16):c.792+140_792+143del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GBenign
Select item 1287576	NM_001001433.3(STX16):c.792+175G>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286892	NM_001001433.3(STX16):c.792+140_792+141del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GBenign
Select item 1283944	NM_001001433.3(STX16):c.133-197A>G	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283882	NM_001001433.3(STX16):c.133-165_133-163del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GBenign
Select item 1283105	NM_001001433.3(STX16):c.132+244dup	STX16, STX16-NPEPL1	Duplication (intron variant)	not provided	GBenign
Select item 1282610	NM_001001433.3(STX16):c.557-143=	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277461	NM_001001433.3(STX16):c.393+156C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273633	NM_001001433.3(STX16):c.792+131G>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273255	NM_001001433.3(STX16):c.792+140_792+147del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GBenign
Select item 1268861	NM_001001433.3(STX16):c.792+128dup	STX16, STX16-NPEPL1	Duplication (intron variant)	not provided	GBenign
Select item 1267302	NM_001001433.3(STX16):c.792+141G>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251308	NM_001001433.3(STX16):c.792+183_792+185del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GBenign
Select item 1250839	NM_001001433.3(STX16):c.792+128_792+129insTAT	STX16, STX16-NPEPL1	Insertion (intron variant)	not provided	GBenign
Select item 1241626	NM_001001433.3(STX16):c.648+235=	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237274	NM_001001433.3(STX16):c.394-96del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GBenign
Select item 1226412	NM_001001433.3(STX16):c.393+225C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224728	NM_001001433.3(STX16):c.874-257G>C	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224138	NM_001001433.3(STX16):c.792+140_792+149del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GBenign
Select item 1221797	NM_001001433.3(STX16):c.394-146A>G	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1049781	NM_001001433.3(STX16):c.661G>A (p.Asp221Asn)	STX16, STX16-NPEPL1 (D168N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1049725	NM_001001433.3(STX16):c.776C>T (p.Ala259Val)	STX16, STX16-NPEPL1 (A206V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 978043	NM_001001433.3(STX16):c.393+557_792+364del	STX16, STX16-NPEPL1	Deletion (splice acceptor variant +1 more)	Pseudohypoparathyroidism type 1B	GPathogenic
Select item 898659	NM_001001433.3(STX16):c.*3194C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 898658	NM_001001433.3(STX16):c.*3110G>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GBenign
Select item 898657	NM_001001433.3(STX16):c.*3092A>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 898656	NM_001001433.3(STX16):c.*3053C>T	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 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 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 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 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 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 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 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 897499	NM_001001433.3(STX16):c.*2574T>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance

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