ClinVar for Gene (Select 5745) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377046	NM_000316.3(PTH1R):c.1605_1609dup (p.His537fs)	PTH1R (H537fs)	Duplication (frameshift variant)	Chondrodysplasia Blomstrand type	GUncertain significance
Select item 3362840	NM_000316.3(PTH1R):c.1047C>T (p.Thr349=)	PTH1R	Single nucleotide variant (synonymous variant)	Metaphyseal chondrodysplasia, Jansen type	GLikely pathogenic
Select item 3354919	NM_000316.3(PTH1R):c.425-8del	PTH1R	Deletion (intron variant)	PTH1R-related disorder	GLikely benign
Select item 3338640	NM_000316.3(PTH1R):c.1405G>A (p.Glu469Lys)	PTH1R (E469K)	Single nucleotide variant (missense variant)	Brachydactyly type E1	GLikely pathogenic
Select item 3311331	NM_000316.3(PTH1R):c.1324C>T (p.His442Tyr)	PTH1R (H442Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311329	NM_000316.3(PTH1R):c.1680C>A (p.Asp560Glu)	PTH1R (D560E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311328	NM_000316.3(PTH1R):c.1588G>A (p.Gly530Ser)	PTH1R (G530S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220847	NM_000316.3(PTH1R):c.542G>A (p.Arg181Gln)	PTH1R (R181Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220846	NM_000316.3(PTH1R):c.1522G>A (p.Val508Ile)	PTH1R (V508I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220845	NM_000316.3(PTH1R):c.1472G>A (p.Ser491Asn)	PTH1R (S491N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220844	NM_000316.3(PTH1R):c.1205A>G (p.Gln402Arg)	PTH1R (Q402R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220843	NM_000316.3(PTH1R):c.1121A>G (p.Asn374Ser)	PTH1R (N374S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3031337	NM_000316.3(PTH1R):c.816C>G (p.Ala272=)	PTH1R	Single nucleotide variant (synonymous variant)	PTH1R-related disorder	GLikely benign
Select item 3023031	NM_000316.3(PTH1R):c.23C>G (p.Pro8Arg)	PTH1R (P8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022110	NM_000316.3(PTH1R):c.981C>T (p.Phe327=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021910	NM_000316.3(PTH1R):c.1160C>T (p.Thr387Ile)	PTH1R (T387I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020042	NM_000316.3(PTH1R):c.1212-5C>G	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018573	NM_000316.3(PTH1R):c.609C>T (p.Thr203=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017034	NM_000316.3(PTH1R):c.524C>G (p.Thr175Ser)	PTH1R (T175S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014130	NM_000316.3(PTH1R):c.1212-11C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004079	NM_000316.3(PTH1R):c.1554C>A (p.Leu518=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000000	NM_000316.3(PTH1R):c.222A>G (p.Thr74=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994502	NM_000316.3(PTH1R):c.1396-15C>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991680	NM_000316.3(PTH1R):c.425-18C>G	PTH1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2988801	NM_000316.3(PTH1R):c.1716C>G (p.Asp572Glu)	PTH1R (D572E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988107	NM_000316.3(PTH1R):c.1180G>A (p.Ala394Thr)	PTH1R (A394T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987883	NM_000316.3(PTH1R):c.50C>T (p.Pro17Leu)	PTH1R (P17L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980575	NM_000316.3(PTH1R):c.1440A>G (p.Ala480=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978499	NM_000316.3(PTH1R):c.1434A>G (p.Thr478=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977950	NM_000316.3(PTH1R):c.330G>A (p.Pro110=)	LOC129936652, PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971335	NM_000316.3(PTH1R):c.1396-20C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968542	NM_000316.3(PTH1R):c.203G>A (p.Gly68Glu)	PTH1R (G68E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964538	NM_000316.3(PTH1R):c.996C>T (p.Pro332=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960282	NM_000316.3(PTH1R):c.1305G>C (p.Thr435=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960276	NM_000316.3(PTH1R):c.1353+18G>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921068	NM_000316.3(PTH1R):c.1116+7del	PTH1R	Deletion (intron variant)	not provided	GLikely benign
Select item 2917195	NM_000316.3(PTH1R):c.313+3A>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2898550	NM_000316.3(PTH1R):c.1532G>C (p.Arg511Pro)	PTH1R (R511P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892698	NM_000316.3(PTH1R):c.266C>G (p.Pro89Arg)	PTH1R (P89R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888828	NM_000316.3(PTH1R):c.1665G>C (p.Met555Ile)	PTH1R (M555I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887562	NM_000316.3(PTH1R):c.1168C>T (p.Arg390Trp)	PTH1R (R390W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885941	NM_000316.3(PTH1R):c.1574C>A (p.Thr525Asn)	PTH1R (T525N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884963	NM_000316.3(PTH1R):c.329C>T (p.Pro110Leu)	LOC129936652, PTH1R (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880565	NM_000316.3(PTH1R):c.1353+19G>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877188	NM_000316.3(PTH1R):c.1552C>T (p.Leu518Phe)	PTH1R (L518F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868737	NM_000316.3(PTH1R):c.1468G>A (p.Gly490Arg)	PTH1R (G490R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854452	NM_000316.3(PTH1R):c.1459G>C (p.Ala487Pro)	PTH1R (A487P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852877	NM_000316.3(PTH1R):c.809C>A (p.Pro270Gln)	PTH1R (P270Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842200	NM_000316.3(PTH1R):c.1128C>G (p.Ile376Met)	PTH1R (I376M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826236	NM_000316.3(PTH1R):c.576C>T (p.Thr192=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823347	NM_000316.3(PTH1R):c.76-12T>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808442	NM_000316.3(PTH1R):c.154C>T (p.Leu52Phe)	PTH1R (L52F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806652	NM_000316.3(PTH1R):c.1536G>A (p.Val512=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801990	NM_000316.3(PTH1R):c.283A>G (p.Lys95Glu)	PTH1R (K95E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800760	NM_000316.3(PTH1R):c.1354-7T>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794120	NM_000316.3(PTH1R):c.646C>A (p.His216Asn)	PTH1R (H216N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777513	NM_000316.3(PTH1R):c.600G>A (p.Ala200=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767678	NM_000316.3(PTH1R):c.836C>T (p.Ala279Val)	PTH1R (A279V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765846	NM_000316.3(PTH1R):c.152G>T (p.Arg51Leu)	PTH1R (R51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2756724	NM_000316.3(PTH1R):c.314-18G>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748340	NM_000316.3(PTH1R):c.416A>G (p.Asn139Ser)	PTH1R (N139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741119	NM_000316.3(PTH1R):c.553G>A (p.Asp185Asn)	PTH1R (D185N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721688	NM_000316.3(PTH1R):c.1143C>T (p.Ile381=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719142	NM_000316.3(PTH1R):c.989-7C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707211	NM_000316.3(PTH1R):c.1144G>A (p.Val382Ile)	PTH1R (V382I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699369	NM_000316.3(PTH1R):c.1030G>A (p.Ala344Thr)	PTH1R (A344T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631091	NM_000316.3(PTH1R):c.1747G>A (p.Ala583Thr)	PTH1R (A583T)	Single nucleotide variant (missense variant)	PTH1R-related disorder	GUncertain significance
Select item 2583011	NM_000316.3(PTH1R):c.1211G>A (p.Arg404Gln)	PTH1R (R404Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580655	NM_000316.3(PTH1R):c.502A>G (p.Ser168Gly)	PTH1R (S168G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2521767	NM_000316.3(PTH1R):c.1525G>A (p.Gly509Ser)	PTH1R (G509S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2500163	NM_000316.3(PTH1R):c.1325_1336del (p.His442_Met445del)	PTH1R	Deletion (inframe_deletion)	Primary failure of tooth eruption	GLikely pathogenic
Select item 2481902	NM_000316.3(PTH1R):c.817A>T (p.Thr273Ser)	PTH1R (T273S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462931	NM_000316.3(PTH1R):c.809C>T (p.Pro270Leu)	PTH1R (P270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442127	NM_000316.3(PTH1R):c.1291G>A (p.Glu431Lys)	PTH1R (E431K)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type	GUncertain significance
Select item 2435281	NM_000316.3(PTH1R):c.1393G>C (p.Glu465Gln)	PTH1R (E465Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430346	NM_000316.3(PTH1R):c.1049+6T>A	PTH1R	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2421608	NM_000316.3(PTH1R):c.1210C>T (p.Arg404Trp)	PTH1R (R404W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421498	NM_000316.3(PTH1R):c.75+7C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2420867	NM_000316.3(PTH1R):c.1372A>T (p.Ile458Leu)	PTH1R (I458L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420056	NM_000316.3(PTH1R):c.1647G>A (p.Glu549=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414327	NM_000316.3(PTH1R):c.1768G>A (p.Glu590Lys)	PTH1R (E590K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2307578	NM_000316.3(PTH1R):c.488C>T (p.Thr163Met)	PTH1R (T163M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306923	NM_000316.3(PTH1R):c.586T>G (p.Ser196Ala)	PTH1R (S196A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301266	NM_000316.3(PTH1R):c.1024G>A (p.Val342Ile)	PTH1R (V342I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299269	NM_000316.3(PTH1R):c.1673C>T (p.Pro558Leu)	PTH1R (P558L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293069	NM_000316.3(PTH1R):c.34C>T (p.Leu12Phe)	PTH1R (L12F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289408	NM_000316.3(PTH1R):c.433T>A (p.Tyr145Asn)	PTH1R (Y145N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287866	NM_000316.3(PTH1R):c.215C>T (p.Ala72Val)	PTH1R (A72V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234320	NM_000316.3(PTH1R):c.1481A>G (p.Tyr494Cys)	PTH1R (Y494C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203349	NM_000316.3(PTH1R):c.764G>A (p.Arg255His)	PTH1R (R255H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194455	NM_000316.3(PTH1R):c.51C>G (p.Pro17=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2192223	NM_000316.3(PTH1R):c.1454G>A (p.Arg485Gln)	PTH1R (R485Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190258	NM_000316.3(PTH1R):c.1488C>T (p.Tyr496=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187267	NM_000316.3(PTH1R):c.800C>G (p.Ala267Gly)	PTH1R (A267G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184367	NM_000316.3(PTH1R):c.1680C>T (p.Asp560=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182074	NM_000316.3(PTH1R):c.1532G>A (p.Arg511His)	PTH1R (R511H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181303	NM_000316.3(PTH1R):c.1353+4C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2171817	NM_000316.3(PTH1R):c.136G>A (p.Ala46Thr)	PTH1R (A46T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166128	NM_000316.3(PTH1R):c.829G>A (p.Gly277Ser)	PTH1R (G277S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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