"GeneDx"[submitter] AND "PTCHD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145171	GRCh38/hg38 Xp22.11(chrX:23251335-23463809)x2	LOC130068044, PTCHD1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1287241	NC_000023.11:g.23334788GCC[12]	PTCHD1	Microsatellite (genic upstream transcript variant)	not provided	GBenign
Select item 1204127	NC_000023.11:g.23334788GCC[10]	PTCHD1	Microsatellite (genic upstream transcript variant)	not provided	GLikely benign
Select item 1195268	NC_000023.11:g.23334807C>T	PTCHD1	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 424379	NM_173495.3(PTCHD1):c.2T>C (p.Met1Thr)	PTCHD1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1199518	NM_173495.3(PTCHD1):c.18G>A (p.Leu6=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340252	NM_173495.3(PTCHD1):c.20A>T (p.His7Leu)	PTCHD1 (H7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3220620	NM_173495.3(PTCHD1):c.49C>G (p.Leu17Val)	PTCHD1 (L17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1678681	NM_173495.3(PTCHD1):c.71A>C (p.His24Pro)	PTCHD1 (H24P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96547	NM_173495.3(PTCHD1):c.93G>A (p.Ala31=)	PTCHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2446472	NM_173495.3(PTCHD1):c.167T>G (p.Leu56Arg)	PTCHD1 (L56R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575005	NM_173495.3(PTCHD1):c.170C>A (p.Ala57Glu)	PTCHD1 (A57E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578124	NM_173495.3(PTCHD1):c.179A>G (p.His60Arg)	PTCHD1 (H60R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302026	NM_173495.3(PTCHD1):c.203A>G (p.Asn68Ser)	PTCHD1 (N68S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1309715	NM_173495.3(PTCHD1):c.217C>A (p.Leu73Ile)	PTCHD1 (L73I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136210	NM_173495.3(PTCHD1):c.253T>A (p.Ser85Thr)	PTCHD1 (S85T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315237	NM_173495.3(PTCHD1):c.310G>A (p.Ala104Thr)	PTCHD1 (A104T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576763	NM_173495.3(PTCHD1):c.316A>T (p.Met106Leu)	PTCHD1 (M106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 211970	NM_173495.3(PTCHD1):c.336C>T (p.Thr112=)	PTCHD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1245667	NM_173495.3(PTCHD1):c.352-297C>T	PTCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340344	NM_173495.3(PTCHD1):c.434A>G (p.Asp145Gly)	PTCHD1 (D145G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 737552	NM_173495.3(PTCHD1):c.466G>A (p.Val156Ile)	PTCHD1 (V156I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1215751	NM_173495.3(PTCHD1):c.491G>A (p.Arg164Gln)	PTCHD1 (R164Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 211971	NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val)	PTCHD1 (I173V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2504889	NM_173495.3(PTCHD1):c.543G>C (p.Lys181Asn)	PTCHD1 (K181N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300952	NM_173495.3(PTCHD1):c.552G>A (p.Arg184=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 818018	NM_173495.3(PTCHD1):c.590_591del (p.Val197fs)	PTCHD1 (V197fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 195428	NM_173495.3(PTCHD1):c.657C>T (p.Asn219=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1254015	NM_173495.3(PTCHD1):c.808C>T (p.Arg270Cys)	PTCHD1 (R270C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589646	NM_173495.3(PTCHD1):c.817G>T (p.Val273Phe)	PTCHD1 (V273F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 589762	NM_173495.3(PTCHD1):c.836T>C (p.Val279Ala)	PTCHD1 (V279A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313729	NM_173495.3(PTCHD1):c.853C>G (p.Leu285Val)	PTCHD1 (L285V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 96546	NM_173495.3(PTCHD1):c.858T>C (p.Cys286=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2578099	NM_173495.3(PTCHD1):c.863C>G (p.Ser288Cys)	PTCHD1 (S288C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311749	NM_173495.3(PTCHD1):c.956A>G (p.Asn319Ser)	PTCHD1 (N319S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1174841	NM_173495.3(PTCHD1):c.1012+5T>C	PTCHD1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1281042	NM_173495.3(PTCHD1):c.1012+269T>G	PTCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198625	NM_173495.3(PTCHD1):c.1013-158T>C	PTCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248601	NM_173495.3(PTCHD1):c.1013-26G>C	PTCHD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209375	NM_173495.3(PTCHD1):c.1013-24T>C	PTCHD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 440214	NM_173495.3(PTCHD1):c.1013-12C>G	PTCHD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 546318	NM_173495.3(PTCHD1):c.1013-2A>G	PTCHD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 392414	NM_173495.3(PTCHD1):c.1023A>T (p.Leu341Phe)	PTCHD1 (L341F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364201	NM_173495.3(PTCHD1):c.1024T>C (p.Tyr342His)	PTCHD1 (Y342H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806553	NM_173495.3(PTCHD1):c.1136C>G (p.Thr379Ser)	PTCHD1 (T379S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574791	NM_173495.3(PTCHD1):c.1142T>C (p.Met381Thr)	PTCHD1 (M381T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371393	NM_173495.3(PTCHD1):c.1175C>T (p.Pro392Leu)	PTCHD1 (P392L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306053	NM_173495.3(PTCHD1):c.1186A>C (p.Ile396Leu)	PTCHD1 (I396L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706254	NM_173495.3(PTCHD1):c.1235T>A (p.Phe412Tyr)	PTCHD1 (F412Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450030	NM_173495.3(PTCHD1):c.1243C>T (p.Leu415Phe)	PTCHD1 (L415F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306217	NM_173495.3(PTCHD1):c.1300A>G (p.Asn434Asp)	PTCHD1 (N434D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196590	NM_173495.3(PTCHD1):c.1311T>C (p.His437=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 211966	NM_173495.3(PTCHD1):c.1332C>T (p.Val444=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3363777	NM_173495.3(PTCHD1):c.1412A>C (p.Glu471Ala)	PTCHD1 (E471A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197432	NM_173495.3(PTCHD1):c.1416C>T (p.Gly472=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 423632	NM_173495.3(PTCHD1):c.1433dup (p.Tyr478Ter)	PTCHD1 (Y478*)	Duplication (nonsense)	not provided	GLikely pathogenic
Select item 1526363	NM_173495.3(PTCHD1):c.1469A>G (p.Tyr490Cys)	PTCHD1 (Y490C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013360	NM_173495.3(PTCHD1):c.1473C>T (p.Tyr491=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 196592	NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=)	PTCHD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 280396	NM_173495.3(PTCHD1):c.1547T>A (p.Leu516Ter)	PTCHD1 (L516*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 817294	NM_173495.3(PTCHD1):c.1575dup (p.Ser526fs)	PTCHD1 (S526fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3370114	NM_173495.3(PTCHD1):c.1658G>A (p.Ser553Asn)	PTCHD1 (S553N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 196594	NM_173495.3(PTCHD1):c.1665G>A (p.Val555=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3371848	NM_173495.3(PTCHD1):c.1667T>C (p.Ile556Thr)	PTCHD1 (I556T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373247	NM_173495.3(PTCHD1):c.1682A>G (p.Tyr561Cys)	PTCHD1 (Y561C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446253	NM_173495.3(PTCHD1):c.1765G>A (p.Glu589Lys)	PTCHD1 (E589K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499571	NM_173495.3(PTCHD1):c.1786C>T (p.Arg596Trp)	PTCHD1 (R596W)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4 +1 more	GUncertain significance
Select item 3366000	NM_173495.3(PTCHD1):c.1796A>G (p.Asn599Ser)	PTCHD1 (N599S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303783	NM_173495.3(PTCHD1):c.1804A>G (p.Thr602Ala)	PTCHD1 (T602A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504435	NM_173495.3(PTCHD1):c.1878del (p.Gln627fs)	PTCHD1 (Q627fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2572692	NM_173495.3(PTCHD1):c.1928T>C (p.Val643Ala)	PTCHD1 (V643A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802101	NM_173495.3(PTCHD1):c.1951G>A (p.Ala651Thr)	PTCHD1 (A651T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706157	NM_173495.3(PTCHD1):c.1957A>G (p.Thr653Ala)	PTCHD1 (T653A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503273	NM_173495.3(PTCHD1):c.1958C>G (p.Thr653Ser)	PTCHD1 (T653S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372479	NM_173495.3(PTCHD1):c.1969_1972del (p.Asn657fs)	PTCHD1 (N657fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3368327	NM_173495.3(PTCHD1):c.1988A>T (p.Asp663Val)	PTCHD1 (D663V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369392	NM_173495.3(PTCHD1):c.2042T>A (p.Val681Asp)	PTCHD1 (V681D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306558	NM_173495.3(PTCHD1):c.2048A>G (p.Asn683Ser)	PTCHD1 (N683S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315553	NM_173495.3(PTCHD1):c.2094C>A (p.Ala698=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3368658	NM_173495.3(PTCHD1):c.2101C>T (p.His701Tyr)	PTCHD1 (H701Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372171	NM_173495.3(PTCHD1):c.2132TCT[2] (p.Phe713del)	PTCHD1 (F713del)	Microsatellite (inframe_indel)	not provided	GLikely pathogenic
Select item 3365110	NM_173495.3(PTCHD1):c.2201T>A (p.Val734Glu)	PTCHD1 (V734E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580548	NM_173495.3(PTCHD1):c.2217A>G (p.Ile739Met)	PTCHD1 (I739M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313353	NM_173495.3(PTCHD1):c.2231T>C (p.Leu744Ser)	PTCHD1 (L744S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504928	NM_173495.3(PTCHD1):c.2266T>C (p.Cys756Arg)	PTCHD1 (C756R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369134	NM_173495.3(PTCHD1):c.2284A>T (p.Asn762Tyr)	PTCHD1 (N762Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371861	NM_173495.3(PTCHD1):c.2293A>G (p.Ile765Val)	PTCHD1 (I765V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309793	NM_173495.3(PTCHD1):c.2309C>T (p.Pro770Leu)	PTCHD1 (P770L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432333	NM_173495.3(PTCHD1):c.2313G>T (p.Met771Ile)	PTCHD1 (M771I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205738	NM_173495.3(PTCHD1):c.2327T>C (p.Val776Ala)	PTCHD1 (V776A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343889	NM_173495.3(PTCHD1):c.2401_2402del (p.Ser801fs)	PTCHD1 (S801fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2662362	NM_173495.3(PTCHD1):c.2422G>A (p.Gly808Ser)	PTCHD1 (G808S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1238639	NM_173495.3(PTCHD1):c.2475G>A (p.Arg825=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1800727	NM_173495.3(PTCHD1):c.2489T>A (p.Ile830Lys)	PTCHD1 (I830K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296842	NM_173495.3(PTCHD1):c.2508T>A (p.Phe836Leu)	PTCHD1 (F836L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2499957	NM_173495.3(PTCHD1):c.2582dup (p.Asn861fs)	PTCHD1 (N861fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1693440	NM_173495.3(PTCHD1):c.2591A>T (p.Asn864Ile)	PTCHD1 (N864I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450242	NM_173495.3(PTCHD1):c.2644G>T (p.Val882Phe)	PTCHD1 (V882F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301138	NM_173495.3(PTCHD1):c.*9G>C	PTCHD1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1296711	NM_173495.3(PTCHD1):c.*225AC[23]	PTCHD1	Microsatellite (3 prime UTR variant)	not provided	GBenign

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