PTHLH[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 1282994	NM_198965.2(PTHLH):c.*172dup	PTHLH	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 13740	NM_198965.2(PTHLH):c.534A>G (p.Ter178Trp)	PTHLH	Single nucleotide variant (stop lost)	Brachydactyly type E2	GPathogenic
Select item 2888878	NM_198965.2(PTHLH):c.525G>A (p.Arg175=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1390633	NM_198965.2(PTHLH):c.525-2A>C	PTHLH	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1194658	NM_198965.2(PTHLH):c.524+224G>A	PTHLH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1207738	NM_198965.2(PTHLH):c.524+219C>T	PTHLH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1193892	NM_198965.2(PTHLH):c.524+170G>A	PTHLH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1628442	NM_198965.2(PTHLH):c.524+15T>G	PTHLH	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 521834	NM_198965.2(PTHLH):c.524+2T>C	PTHLH	Single nucleotide variant (stop lost +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2593433	NM_198965.2(PTHLH):c.506C>T (p.Ser169Leu)	PTHLH (S169L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1920928	NM_198965.2(PTHLH):c.503C>T (p.Thr168Met)	PTHLH (T168M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392444	NM_198965.2(PTHLH):c.499A>G (p.Thr167Ala)	PTHLH (T167A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800306	NM_198965.2(PTHLH):c.485T>C (p.Leu162Pro)	PTHLH (L162P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628736	NM_198965.2(PTHLH):c.481_482insT (p.His161fs)	PTHLH (H161fs)	Insertion (frameshift variant)	PTHLH-related disorder	GUncertain significance
Select item 1313420	NM_198965.2(PTHLH):c.479A>C (p.Asp160Ala)	PTHLH (D160A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047616	NM_198965.2(PTHLH):c.475G>A (p.Gly159Arg)	PTHLH (G159R)	Single nucleotide variant (missense variant)	PTHLH-related disorder	GUncertain significance
Select item 2818099	NM_198965.2(PTHLH):c.466G>A (p.Gly156Arg)	PTHLH (G156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351140	NM_198965.2(PTHLH):c.458C>G (p.Thr153Ser)	PTHLH (T153S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717354	NM_198965.2(PTHLH):c.447C>G (p.Asp149Glu)	PTHLH (D149E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2851782	NM_198965.2(PTHLH):c.433T>C (p.Ser145Pro)	PTHLH (S145P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104564	NM_198965.2(PTHLH):c.431G>A (p.Arg144His)	PTHLH (R144H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770159	NM_198965.2(PTHLH):c.430C>G (p.Arg144Gly)	PTHLH (R144G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1473381	NM_198965.2(PTHLH):c.422G>A (p.Arg141Gln)	PTHLH (R141Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1667052	NM_198965.2(PTHLH):c.421C>A (p.Arg141=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813253	NM_198965.2(PTHLH):c.409G>A (p.Glu137Lys)	PTHLH (E137K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284043	NM_198965.2(PTHLH):c.408G>A (p.Gln136=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1905141	NM_198965.2(PTHLH):c.390C>T (p.Pro130=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801672	NM_198965.2(PTHLH):c.366T>C (p.Pro122=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766568	NM_198965.2(PTHLH):c.365C>A (p.Pro122His)	PTHLH (P122H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13741	NM_198965.2(PTHLH):c.358A>T (p.Lys120Ter)	PTHLH (K120*)	Single nucleotide variant (nonsense)	Brachydactyly type E2	GPathogenic
Select item 1546571	NM_198965.2(PTHLH):c.357C>T (p.Leu119=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659935	NM_198965.2(PTHLH):c.348G>A (p.Glu116=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261316	NM_198965.2(PTHLH):c.347A>G (p.Glu116Gly)	PTHLH (E116G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965708	NM_198965.2(PTHLH):c.339G>A (p.Thr113=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167840	NM_198965.2(PTHLH):c.338C>T (p.Thr113Met)	PTHLH (T113M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148984	NM_198965.2(PTHLH):c.331G>A (p.Val111Met)	PTHLH (V111M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1897930	NM_198965.2(PTHLH):c.330G>A (p.Lys110=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1451145	NM_198965.2(PTHLH):c.309C>G (p.Tyr103Ter)	PTHLH (Y103*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2993619	NM_198965.2(PTHLH):c.287G>T (p.Gly96Val)	PTHLH (G96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1534896	NM_198965.2(PTHLH):c.279C>A (p.Val93=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3256666	NM_198965.2(PTHLH):c.276dup (p.Val93fs)	PTHLH (V93fs)	Duplication (frameshift variant)	Brachydactyly type E2	GLikely pathogenic
Select item 794596	NM_198965.2(PTHLH):c.276C>G (p.Pro92=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405380	NM_198965.2(PTHLH):c.271C>T (p.His91Tyr)	PTHLH (H91Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888524	NM_198965.2(PTHLH):c.261C>A (p.Asn87Lys)	PTHLH (N87K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2051059	NM_198965.2(PTHLH):c.246C>G (p.Ser82=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935776	NM_198965.2(PTHLH):c.241A>G (p.Asn81Asp)	PTHLH (N81D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3148983	NM_198965.2(PTHLH):c.233T>C (p.Val78Ala)	PTHLH (V78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2055133	NM_198965.2(PTHLH):c.224C>T (p.Thr75Ile)	PTHLH (T75I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1435513	NM_198965.2(PTHLH):c.207del (p.Ala70fs)	PTHLH (A70fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2704575	NM_198965.2(PTHLH):c.178_181del (p.Leu60fs)	PTHLH (L60fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1504734	NM_198965.2(PTHLH):c.181C>T (p.His61Tyr)	PTHLH (H61Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13738	NM_198965.2(PTHLH):c.179T>C (p.Leu60Pro)	PTHLH (L60P)	Single nucleotide variant (missense variant)	Brachydactyly type E2	GPathogenic
Select item 2152144	NM_198965.2(PTHLH):c.169C>T (p.Arg57Ter)	PTHLH (R57*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1383557	NM_198965.2(PTHLH):c.167G>A (p.Arg56Gln)	PTHLH (R56Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993676	NM_198965.2(PTHLH):c.160T>C (p.Leu54=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413323	NM_198965.2(PTHLH):c.141G>A (p.Lys47=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2023756	NM_198965.2(PTHLH):c.133C>T (p.His45Tyr)	PTHLH (H45Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13739	NM_198965.2(PTHLH):c.131T>C (p.Leu44Pro)	PTHLH (L44P)	Single nucleotide variant (missense variant)	Brachydactyly type E2	GPathogenic
Select item 2818056	NM_198965.2(PTHLH):c.130C>T (p.Leu44Phe)	PTHLH (L44F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303824	NM_198965.2(PTHLH):c.128T>C (p.Leu43Pro)	PTHLH (L43P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968836	NM_198965.2(PTHLH):c.121C>T (p.His41Tyr)	PTHLH (H41Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950379	NM_198965.2(PTHLH):c.114G>A (p.Val38=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841005	NM_198965.2(PTHLH):c.102-14A>G	PTHLH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289556	NM_198965.2(PTHLH):c.101+225G>C	PTHLH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1349236	NM_198965.2(PTHLH):c.95G>A (p.Arg32His)	PTHLH (R32H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1428990	NM_198965.2(PTHLH):c.85G>A (p.Gly29Ser)	PTHLH (G29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182121	NM_198965.2(PTHLH):c.65C>T (p.Ser22Phe)	PTHLH (S22F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724533	NM_198965.2(PTHLH):c.63C>T (p.Pro21=)	PTHLH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2109885	NM_198965.2(PTHLH):c.54C>A (p.Tyr18Ter)	PTHLH (Y18*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1507762	NM_198965.2(PTHLH):c.50G>A (p.Ser17Asn)	PTHLH (S17N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192234	NM_198965.2(PTHLH):c.44T>G (p.Leu15Arg)	PTHLH (L15R)	Single nucleotide variant (missense variant)	Brachydactyly type E2	GPathogenic
Select item 1898336	NM_198965.2(PTHLH):c.42C>A (p.Phe14Leu)	PTHLH (F14L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997851	NM_198965.2(PTHLH):c.34G>A (p.Ala12Thr)	PTHLH (A12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831037	NM_198965.2(PTHLH):c.23_24delinsCC (p.Gln8Pro)	PTHLH (Q8P)	Indel (missense variant)	not provided	GUncertain significance
Select item 284426	NM_198965.2(PTHLH):c.7C>T (p.Arg3Trp)	PTHLH (R3W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811749	NM_198965.2(PTHLH):c.2T>C (p.Met1Thr)	PTHLH (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2832630	NM_198965.2(PTHLH):c.1A>G (p.Met1Val)	PTHLH (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2036140	NM_198965.2(PTHLH):c.1A>T (p.Met1Leu)	PTHLH (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1175820	NM_198965.2(PTHLH):c.-1G>A	PTHLH	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1247849	NM_198965.2(PTHLH):c.-22-36A>T	PTHLH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1227511	NM_198965.2(PTHLH):c.-22-213_-22-208del	PTHLH	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2685051	GRCh37/hg19 12p11.23-11.22(chr12:27514172-29338877)x4	BMAL2, CCDC91 +7 more	Copy number gain	not provided	GLikely pathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2427662	NC_000012.11:g.(?_27869224)_(28123052_?)dup	KLHL42, MANSC4 +2 more	Duplication	not provided	GUncertain significance
Select item 1807760	GRCh37/hg19 12p11.22(chr12:28094908-28175040)x1	PTHLH	Copy number loss	not provided	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1459726	NC_000012.11:g.(?_28111492)_(28122427_?)dup	PTHLH	Duplication	not provided	GPathogenic
Select item 1458784	NC_000012.11:g.(?_28111492)_(28122427_?)del	PTHLH	Deletion	not provided	GPathogenic
Select item 1340043	GRCh37/hg19 12p12.1-11.22(chr12:23693737-29545102)x1	BCAT1, BHLHE41 +27 more	Copy number loss	not provided	GPathogenic

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