15901[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 1558624	NM_016004.5(IFT52):c.12G>A (p.Glu4=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1409424	NM_016004.5(IFT52):c.12G>C (p.Glu4Asp)	IFT52 (E4D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 799457	NM_016004.5(IFT52):c.42C>T (p.Tyr14=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2019457	NM_016004.5(IFT52):c.63C>G (p.Thr21=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2176838	NM_016004.5(IFT52):c.65A>C (p.Asn22Thr)	IFT52 (N22T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3108411	NM_016004.5(IFT52):c.97C>T (p.Arg33Trp)	IFT52 (R33W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1386108	NM_016004.5(IFT52):c.104A>G (p.Asn35Ser)	IFT52 (N35S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1654926	NM_016004.5(IFT52):c.119+5C>T	IFT52	Single nucleotide variant (intron variant)	IFT52-related disorder +1 more	GLikely benign
Select item 2997209	NM_016004.5(IFT52):c.119+11A>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908748	NM_016004.5(IFT52):c.119+11A>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997717	NM_016004.5(IFT52):c.119+15A>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973871	NM_016004.5(IFT52):c.119+20G>A	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249424	NM_016004.5(IFT52):c.119+232C>G	IFT52	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2894930	NM_016004.5(IFT52):c.120-10G>A	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2089669	NM_016004.5(IFT52):c.120-5T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902618	NM_016004.5(IFT52):c.120C>G (p.Ser40Arg)	IFT52 (S40R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 724655	NM_016004.5(IFT52):c.121T>C (p.Leu41=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1618581	NM_016004.5(IFT52):c.135C>T (p.Ile45=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2613540	NM_016004.5(IFT52):c.144G>T (p.Glu48Asp)	IFT52 (E48D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1427662	NM_016004.5(IFT52):c.157G>A (p.Val53Met)	IFT52 (V53M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2122172	NM_016004.5(IFT52):c.159_160delinsAG (p.Lys54Glu)	IFT52 (K54E)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1183241	NM_016004.5(IFT52):c.159G>A (p.Val53=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 16 with or without polydactyly +1 more	GBenign
Select item 3108404	NM_016004.5(IFT52):c.188A>G (p.Glu63Gly)	IFT52 (E63G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274117	NM_016004.5(IFT52):c.196A>G (p.Thr66Ala)	IFT52 (T66A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2787151	NM_016004.5(IFT52):c.201A>G (p.Ala67=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961413	NM_016004.5(IFT52):c.207+15C>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313228	NM_016004.5(IFT52):c.208-3T>A	IFT52	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2192537	NM_016004.5(IFT52):c.216C>A (p.Ile72=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876446	NM_016004.5(IFT52):c.219G>A (p.Leu73=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1562305	NM_016004.5(IFT52):c.225A>G (p.Lys75=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1521925	NM_016004.5(IFT52):c.227A>G (p.Tyr76Cys)	IFT52 (Y76C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2878578	NM_016004.5(IFT52):c.238G>A (p.Gly80Ser)	IFT52 (G80S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1418851	NM_016004.5(IFT52):c.258G>A (p.Met86Ile)	IFT52 (M86I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1656478	NM_016004.5(IFT52):c.259C>T (p.Leu87=)	IFT52	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1523815	NM_016004.5(IFT52):c.284T>C (p.Phe95Ser)	IFT52 (F95S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1927431	NM_016004.5(IFT52):c.290_293dup (p.Ile99fs)	IFT52 (I99fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1446904	NM_016004.5(IFT52):c.290C>T (p.Thr97Ile)	IFT52 (T97I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723712	NM_016004.5(IFT52):c.291C>T (p.Thr97=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 983489	NM_016004.5(IFT52):c.293A>G (p.Asn98Ser)	IFT52 (N98S)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 16 with or without polydactyly	GPathogenic
Select item 1478298	NM_016004.5(IFT52):c.314A>G (p.Glu105Gly)	IFT52 (E105G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 742130	NM_016004.5(IFT52):c.333T>C (p.Asn111=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2806240	NM_016004.5(IFT52):c.337+8G>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637848	NM_016004.5(IFT52):c.337+11T>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663611	NM_016004.5(IFT52):c.337+13A>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009311	NM_016004.5(IFT52):c.337+14T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795022	NM_016004.5(IFT52):c.337+20T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257587	NM_016004.5(IFT52):c.337+125C>G	IFT52	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1899507	NM_016004.5(IFT52):c.338-18T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658985	NM_016004.5(IFT52):c.338-17C>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1544660	NM_016004.5(IFT52):c.338-3T>A	IFT52	Single nucleotide variant (intron variant)	IFT52-related disorder +1 more	GLikely benign
Select item 3004213	NM_016004.5(IFT52):c.345G>A (p.Val115=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3108405	NM_016004.5(IFT52):c.346G>A (p.Val116Ile)	IFT52 (V116I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1440740	NM_016004.5(IFT52):c.356T>C (p.Val119Ala)	IFT52 (V119A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3108406	NM_016004.5(IFT52):c.401G>A (p.Gly134Glu)	IFT52 (G134E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1346154	NM_016004.5(IFT52):c.413+5del	IFT52	Deletion (intron variant)	not provided	GUncertain significance
Select item 1644900	NM_016004.5(IFT52):c.413+19G>A	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693215	NM_016004.5(IFT52):c.414-12T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1949524	NM_016004.5(IFT52):c.414-9T>G	IFT52	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 253306	NM_016004.5(IFT52):c.424C>T (p.Arg142Ter)	IFT52 (R142*)	Single nucleotide variant (nonsense +1 more)	Short-rib thoracic dysplasia 16 with or without polydactyly	GPathogenic
Select item 2076240	NM_016004.5(IFT52):c.425G>A (p.Arg142Gln)	IFT52 (R142Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2414856	NM_016004.5(IFT52):c.429del (p.Ala144fs)	IFT52 (A144fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2285507	NM_016004.5(IFT52):c.455T>C (p.Ile152Thr)	IFT52 (I152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1366197	NM_016004.5(IFT52):c.482C>T (p.Ala161Val)	IFT52 (A161V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1282519	NM_016004.5(IFT52):c.486-134C>A	IFT52	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287215	NM_016004.5(IFT52):c.486-38T>A	IFT52	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2192816	NM_016004.5(IFT52):c.486-10T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108600	NM_016004.5(IFT52):c.489T>C (p.Ala163=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1910650	NM_016004.5(IFT52):c.490C>T (p.Leu164Phe)	IFT52 (L164F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2837532	NM_016004.5(IFT52):c.501G>A (p.Val167=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 715700	NM_016004.5(IFT52):c.520T>C (p.Leu174=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1500488	NM_016004.5(IFT52):c.542dup (p.Ala182fs)	IFT52 (A6fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1517353	NM_016004.5(IFT52):c.545C>T (p.Ala182Val)	IFT52 (A6V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970280	NM_016004.5(IFT52):c.546G>C (p.Ala182=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 727879	NM_016004.5(IFT52):c.546G>A (p.Ala182=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 983488	NM_016004.5(IFT52):c.556A>G (p.Thr186Ala)	IFT52 (T186A +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 16 with or without polydactyly	GPathogenic
Select item 2418604	NM_016004.5(IFT52):c.560G>C (p.Gly187Ala)	IFT52 (G11A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1389403	NM_016004.5(IFT52):c.569G>C (p.Cys190Ser)	IFT52 (C190S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2330041	NM_016004.5(IFT52):c.571T>C (p.Phe191Leu)	IFT52 (F15L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2809509	NM_016004.5(IFT52):c.576A>G (p.Pro192=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 726547	NM_016004.5(IFT52):c.582C>T (p.Asn194=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 253307	NM_016004.5(IFT52):c.595G>A (p.Ala199Thr)	IFT52 (A199T +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 16 with or without polydactyly +1 more	GPathogenic/Likely pathogenic
Select item 740272	NM_016004.5(IFT52):c.602A>G (p.Tyr201Cys)	IFT52 (Y25C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2975284	NM_016004.5(IFT52):c.612+18T>C	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268493	NM_016004.5(IFT52):c.612+84C>T	IFT52	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2077785	NM_016004.5(IFT52):c.613-128_622del	IFT52	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2703787	NM_016004.5(IFT52):c.613-18C>T	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1500199	NM_016004.5(IFT52):c.613-4A>G	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 747219	NM_016004.5(IFT52):c.618A>G (p.Gln206=)	IFT52	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2177345	NM_016004.5(IFT52):c.649C>T (p.His217Tyr)	IFT52 (H41Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 983487	NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr)	IFT52	Indel (inframe_indel)	Short-rib thoracic dysplasia 16 with or without polydactyly	GPathogenic
Select item 1248206	NM_016004.5(IFT52):c.699+140C>T	IFT52	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282171	NM_016004.5(IFT52):c.700-99C>T	IFT52	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1917663	NM_016004.5(IFT52):c.700-18_700-17insA	IFT52	Insertion (intron variant)	not provided	GLikely benign
Select item 1662305	NM_016004.5(IFT52):c.700-9_700-8dup	IFT52	Duplication (intron variant)	not provided	GBenign
Select item 1609311	NM_016004.5(IFT52):c.700-10_700-8dup	IFT52	Duplication (intron variant)	not provided	GBenign
Select item 1289356	NM_016004.5(IFT52):c.700-8dup	IFT52	Duplication (intron variant)	not provided	GBenign
Select item 1922528	NM_016004.5(IFT52):c.700-15_700-14insC	IFT52	Insertion (intron variant)	not provided	GLikely benign
Select item 1611876	NM_016004.5(IFT52):c.700-8T>A	IFT52	Single nucleotide variant (intron variant)	not provided	GLikely benign

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