ClinVar for Gene (Select 8675) - 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 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 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	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 2443386	NM_001001433.3(STX16):c.873+1_873+2dup	STX16, STX16-NPEPL1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2423450	NC_000020.10:g.(?_57244327)_(57246373_?)del	STX16	Deletion	not provided	GPathogenic
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 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 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 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 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 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 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	ANKRD60, APCDD1L +25 more	Copy number loss	not specified	GPathogenic
Select item 1374167	NC_000020.10:g.(?_54823900)_(57899514_?)del	ANKRD60, APCDD1L +36 more	Deletion	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 1277816	NC_000020.11:g.58651023C>G	STX16	Single nucleotide 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 1250249	NC_000020.11:g.58651187G>C	STX16	Single nucleotide 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 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
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
Select item 897498	NM_001001433.3(STX16):c.*2568C>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 897497	NM_001001433.3(STX16):c.*2558T>C	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 897496	NM_001001433.3(STX16):c.*2555C>G	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
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 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 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 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 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 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 897023	NM_001001433.3(STX16):c.*2377G>T	STX16, STX16-NPEPL1	Single nucleotide variant (3 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
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 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 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 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 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 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 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 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

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