5745[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 154800	GRCh38/hg38 3p21.31(chr3:46726614-46968315)x1	CCDC12, LOC112935943 +13 more	Copy number loss	See cases	GPathogenic
Select item 345573	NM_000316.3(PTH1R):c.-166G>A	MYL3, PTH1R	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 903019	NM_000316.3(PTH1R):c.-64C>A	MYL3, PTH1R	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 1188140	NM_000316.3(PTH1R):c.-48-287C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 345574	NM_000316.3(PTH1R):c.-37G>A	PTH1R	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1379665	NM_000316.3(PTH1R):c.13C>G (p.Arg5Gly)	PTH1R (R5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1721122	NM_000316.3(PTH1R):c.25G>A (p.Gly9Ser)	PTH1R (G9S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 591743	NM_000316.3(PTH1R):c.26_27delinsTT (p.Gly9Val)	PTH1R (G9V)	Indel (missense variant)	not provided	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 2987883	NM_000316.3(PTH1R):c.50C>T (p.Pro17Leu)	PTH1R (P17L)	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 899408	NM_000316.3(PTH1R):c.57C>G (p.Leu19=)	PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 1359837	NM_000316.3(PTH1R):c.65C>T (p.Ala22Val)	PTH1R (A22V)	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 345575	NM_000316.3(PTH1R):c.75+9C>T	PTH1R	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 345576	NM_000316.3(PTH1R):c.75+12G>A	PTH1R	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 2823347	NM_000316.3(PTH1R):c.76-12T>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898103	NM_000316.3(PTH1R):c.76-11C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 545721	NM_000316.3(PTH1R):c.103G>A (p.Glu35Lys)	PTH1R (E35K)	Single nucleotide variant (missense variant)	Eiken syndrome	GUncertain significance
Select item 197132	NM_000316.3(PTH1R):c.109C>A (p.Gln37Lys)	PTH1R (Q37K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048683	NM_000316.3(PTH1R):c.117C>T (p.Phe39=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64397	NM_000316.3(PTH1R):c.124C>T (p.His42Tyr)	PTH1R (H42Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345577	NM_000316.3(PTH1R):c.128G>A (p.Arg43His)	PTH1R (R43H)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 2077226	NM_000316.3(PTH1R):c.134A>G (p.Gln45Arg)	PTH1R (Q45R)	Single nucleotide variant (missense 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 900527	NM_000316.3(PTH1R):c.137C>A (p.Ala46Asp)	PTH1R (A46D)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	GConflicting classifications of pathogenicity
Select item 345578	NM_000316.3(PTH1R):c.144C>T (p.Cys48=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1918137	NM_000316.3(PTH1R):c.152G>A (p.Arg51Gln)	PTH1R (R51Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1515323	NM_000316.3(PTH1R):c.157A>G (p.Lys53Glu)	PTH1R (K53E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1634517	NM_000316.3(PTH1R):c.178+20G>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237944	NM_000316.3(PTH1R):c.178+28G>T	PTH1R	Single nucleotide variant (intron variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GBenign
Select item 1241576	NM_000316.3(PTH1R):c.178+182C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246255	NM_000316.3(PTH1R):c.178+235A>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1390196	NM_000316.3(PTH1R):c.181_182delinsCC (p.Ser61Pro)	PTH1R (S61P)	Indel (missense variant)	not provided	GUncertain significance
Select item 1145797	NM_000316.3(PTH1R):c.182G>A (p.Ser61Asn)	PTH1R (S61N)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 2287866	NM_000316.3(PTH1R):c.215C>T (p.Ala72Val)	PTH1R (A72V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 345579	NM_000316.3(PTH1R):c.216G>A (p.Ala72=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely 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 345580	NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg)	PTH1R (G76R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 1639053	NM_000316.3(PTH1R):c.279G>A (p.Glu93=)	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 345581	NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp)	PTH1R (G100D)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 13750	NM_000316.3(PTH1R):c.310C>T (p.Arg104Ter)	PTH1R (R104*)	Single nucleotide variant (nonsense)	Chondrodysplasia Blomstrand type	GPathogenic
Select item 1410640	NM_000316.3(PTH1R):c.311G>A (p.Arg104Gln)	PTH1R (R104Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917195	NM_000316.3(PTH1R):c.313+3A>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 345582	NM_000316.3(PTH1R):c.313+4C>T	PTH1R	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1166415	NM_000316.3(PTH1R):c.313+32A>G	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1291689	NM_000316.3(PTH1R):c.313+331_313+334del	PTH1R	Microsatellite (intron variant)	not provided	GBenign
Select item 1281622	NM_000316.3(PTH1R):c.314-209G>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266121	NM_000316.3(PTH1R):c.314-159C>A	PTH1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2756724	NM_000316.3(PTH1R):c.314-18G>C	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 64399	NM_000316.3(PTH1R):c.316C>T (p.Arg106Cys)	PTH1R (R106C)	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 2977950	NM_000316.3(PTH1R):c.330G>A (p.Pro110=)	LOC129936652, PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1985366	NM_000316.3(PTH1R):c.354G>C (p.Trp118Cys)	LOC129936652, PTH1R (W118C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345585	NM_000316.3(PTH1R):c.357G>A (p.Pro119=)	LOC129936652, PTH1R	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1410602	NM_000316.3(PTH1R):c.364G>A (p.Ala122Thr)	LOC129936652, PTH1R (A122T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 345586	NM_000316.3(PTH1R):c.375G>A (p.Glu125=)	LOC129936652, PTH1R	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1949239	NM_000316.3(PTH1R):c.379G>A (p.Val127Met)	LOC129936652, PTH1R (V127M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097223	NM_000316.3(PTH1R):c.380T>A (p.Val127Glu)	LOC129936652, PTH1R (V127E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935755	NM_000316.3(PTH1R):c.389C>T (p.Pro130Leu)	LOC129936652, PTH1R (P130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379239	NM_000316.3(PTH1R):c.395C>G (p.Pro132Arg)	LOC129936652, PTH1R (P132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13745	NM_000316.3(PTH1R):c.395C>T (p.Pro132Leu)	LOC129936652, PTH1R (P132L)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +3 more	GPathogenic
Select item 1959913	NM_000316.3(PTH1R):c.396G>A (p.Pro132=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 631484	NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser)	PTH1R (Y134S)	Single nucleotide variant (missense variant)	Eiken syndrome	GUncertain significance
Select item 903068	NM_000316.3(PTH1R):c.408T>C (p.Tyr136=)	PTH1R	Single nucleotide variant (synonymous variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
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 993887	NM_000316.3(PTH1R):c.424+17G>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 1988545	NM_000316.3(PTH1R):c.425-12A>G	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 284910	NM_000316.3(PTH1R):c.425G>A (p.Gly142Asp)	PTH1R (G142D)	Single nucleotide variant (missense variant)	not provided	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 345587	NM_000316.3(PTH1R):c.436C>A (p.Arg146=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 916262	NM_000316.3(PTH1R):c.439C>T (p.Arg147Cys)	PTH1R (R147C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523004	NM_000316.3(PTH1R):c.440G>A (p.Arg147His)	PTH1R (R147H)	Single nucleotide variant (missense variant)	Primary failure of tooth eruption +1 more	GUncertain significance
Select item 281247	NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys)	PTH1R (R150C)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +4 more	GBenign/Likely benign
Select item 1401176	NM_000316.3(PTH1R):c.449G>T (p.Arg150Leu)	PTH1R (R150L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 899444	NM_000316.3(PTH1R):c.449G>A (p.Arg150His)	PTH1R (R150H)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Jansen type +1 more	GConflicting classifications of pathogenicity
Select item 2034575	NM_000316.3(PTH1R):c.456C>T (p.Gly152=)	PTH1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 13754	NM_000316.3(PTH1R):c.463G>T (p.Glu155Ter)	PTH1R (E155*)	Single nucleotide variant (nonsense)	Primary failure of tooth eruption	GPathogenic
Select item 345588	NM_000316.3(PTH1R):c.473C>G (p.Pro158Arg)	PTH1R (P158R)	Single nucleotide variant (missense variant)	Chondrodysplasia Blomstrand type +1 more	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 2580655	NM_000316.3(PTH1R):c.502A>G (p.Ser168Gly)	PTH1R (S168G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 64400	NM_000316.3(PTH1R):c.526A>T (p.Asn176Tyr)	PTH1R (N176Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069070	NM_000316.3(PTH1R):c.527A>G (p.Asn176Ser)	PTH1R (N176S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721107	NM_000316.3(PTH1R):c.532A>G (p.Thr178Ala)	PTH1R (T178A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049837	NM_000316.3(PTH1R):c.536G>T (p.Arg179Leu)	PTH1R (R179L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1938124	NM_000316.3(PTH1R):c.541C>T (p.Arg181Trp)	PTH1R (R181W)	Single nucleotide variant (missense variant)	not provided	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 13753	NM_000316.3(PTH1R):c.543+1G>A	PTH1R	Single nucleotide variant (splice donor variant)	Primary failure of tooth eruption	GPathogenic
Select item 1046655	NM_000316.3(PTH1R):c.543+4C>T	PTH1R	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 345589	NM_000316.3(PTH1R):c.543+14T>C	PTH1R	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1937469	NM_000316.3(PTH1R):c.544-14C>T	PTH1R	Single nucleotide variant (intron variant)	not provided	GLikely benign

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