8675[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 230

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 153145	GRCh38/hg38 20q13.32(chr20:58630473-58881669)x3	GNAS, GNAS-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 1277816	NC_000020.11:g.58651023C>G	STX16	Single nucleotide variant	not provided	GBenign
Select item 1250249	NC_000020.11:g.58651187G>C	STX16	Single nucleotide variant	not provided	GBenign
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 +1 more	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)	Pseudohypoparathyroidism type 1B +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)	not provided +1 more	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 +1 more	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 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 745018	NM_001001433.3(STX16):c.99C>T (p.Thr33=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +3 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 3171731	NM_001001433.3(STX16):c.106C>T (p.Pro36Ser)	STX16, STX16-NPEPL1 (P36S)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
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 2872225	NM_001001433.3(STX16):c.132+14C>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 339044	NM_001001433.3(STX16):c.132+15G>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1283105	NM_001001433.3(STX16):c.132+244dup	STX16, STX16-NPEPL1	Duplication (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 1973063	NM_001001433.3(STX16):c.133-18G>A	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3323459	NM_001001433.3(STX16):c.134A>C (p.Glu45Ala)	STX16, STX16-NPEPL1 (E28A +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
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 1971473	NM_001001433.3(STX16):c.144+16T>C	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 6149	NM_001001433.3(STX16):c.145-2060_556+343del	STX16, STX16-NPEPL1	Deletion (splice acceptor variant +2 more)	Pseudohypoparathyroidism type 1B	GPathogenic
Select item 2316465	NM_001001433.3(STX16):c.149C>T (p.Ala50Val)	STX16, STX16-NPEPL1 (A33V +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	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 2180497	NM_001001433.3(STX16):c.157C>T (p.Arg53Cys)	STX16, STX16-NPEPL1 (R53C +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
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 339046	NM_001001433.3(STX16):c.217C>T (p.Arg73Trp)	STX16, STX16-NPEPL1 (R73W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GConflicting classifications of pathogenicity
Select item 3171732	NM_001001433.3(STX16):c.218G>A (p.Arg73Gln)	STX16, STX16-NPEPL1 (R20Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 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 792846	NM_001001433.3(STX16):c.303C>T (p.Ser101=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 735849	NM_001001433.3(STX16):c.360T>C (p.His120=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
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 1277461	NM_001001433.3(STX16):c.393+156C>T	STX16, STX16-NPEPL1	Single nucleotide variant (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 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 1221797	NM_001001433.3(STX16):c.394-146A>G	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 2876830	NM_001001433.3(STX16):c.394-19C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 339047	NM_001001433.3(STX16):c.394-7C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1B	GBenign
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 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 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 disorder	GUncertain significance
Select item 2373111	NM_001001433.3(STX16):c.422A>G (p.Gln141Arg)	STX16, STX16-NPEPL1 (Q120R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 disorder	GLikely benign
Select item 710614	NM_001001433.3(STX16):c.442C>T (p.Arg148Trp)	STX16, STX16-NPEPL1 (R127W +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GLikely benign
Select item 339048	NM_001001433.3(STX16):c.443G>A (p.Arg148Gln)	STX16-NPEPL1, STX16 (R148Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Pseudohypoparathyroidism type 1B +1 more	GBenign
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 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 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 (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 423069	NM_001001433.3(STX16):c.475G>A (p.Gly159Arg)	STX16, STX16-NPEPL1 (G159R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 762952	NM_001001433.3(STX16):c.480C>T (p.Asn160=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2312105	NM_001001433.3(STX16):c.485T>A (p.Val162Glu)	STX16, STX16-NPEPL1 (V109E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 723869	NM_001001433.3(STX16):c.546C>A (p.Gly182=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	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 1282610	NM_001001433.3(STX16):c.557-143=	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	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/Likely benign
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 339052	NM_001001433.3(STX16):c.569G>A (p.Arg190Gln)	STX16, STX16-NPEPL1 (R190Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 339053	NM_001001433.3(STX16):c.585G>A (p.Gln195=)	STX16, STX16-NPEPL1	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)	not provided +1 more	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)	not provided +1 more	GBenign/Likely benign
Select item 3323458	NM_001001433.3(STX16):c.628G>A (p.Asp210Asn)	STX16, STX16-NPEPL1 (D210N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2699116	NM_001001433.3(STX16):c.636T>C (p.Thr212=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely 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 1982729	NM_001001433.3(STX16):c.648+4C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 744023	NM_001001433.3(STX16):c.648+10C>T	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241626	NM_001001433.3(STX16):c.648+235=	STX16, STX16-NPEPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2872953	NM_001001433.3(STX16):c.649-13del	STX16, STX16-NPEPL1	Deletion (intron variant)	not provided	GLikely benign
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 734383	NM_001001433.3(STX16):c.666G>A (p.Gln222=)	STX16, STX16-NPEPL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3323457	NM_001001433.3(STX16):c.685A>C (p.Asn229His)	STX16, STX16-NPEPL1 (N176H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 3