ClinVar for Gene (Select 139411) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 393

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311219	NM_173495.3(PTCHD1):c.56A>G (p.His19Arg)	PTCHD1 (H19R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3311218	NM_173495.3(PTCHD1):c.1373G>A (p.Arg458Lys)	PTCHD1 (R458K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311217	NM_173495.3(PTCHD1):c.2496T>A (p.Phe832Leu)	PTCHD1 (F832L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311216	NM_173495.3(PTCHD1):c.2461T>C (p.Cys821Arg)	PTCHD1 (C821R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311215	NM_173495.3(PTCHD1):c.2134T>C (p.Phe712Leu)	PTCHD1 (F712L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311214	NM_173495.3(PTCHD1):c.1391G>C (p.Arg464Thr)	PTCHD1 (R464T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311212	NM_173495.3(PTCHD1):c.2432C>T (p.Pro811Leu)	PTCHD1 (P811L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256963	NM_173495.3(PTCHD1):c.2593C>A (p.Arg865=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254644	NM_173495.3(PTCHD1):c.1082_1083dup (p.Glu362fs)	PTCHD1 (E362fs)	Duplication (frameshift variant)	Autism, susceptibility to, X-linked 4	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3239586	NM_173495.3(PTCHD1):c.55C>A (p.His19Asn)	PTCHD1 (H19N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239327	NM_173495.3(PTCHD1):c.604C>T (p.Arg202Trp)	PTCHD1 (R202W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236816	NM_173495.3(PTCHD1):c.1772A>G (p.Tyr591Cys)	PTCHD1 (Y591C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 3234217	NM_173495.3(PTCHD1):c.546C>T (p.Asp182=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220624	NM_173495.3(PTCHD1):c.940G>A (p.Ala314Thr)	PTCHD1 (A314T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220623	NM_173495.3(PTCHD1):c.831T>G (p.Ile277Met)	PTCHD1 (I277M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3220621	NM_173495.3(PTCHD1):c.662T>C (p.Leu221Pro)	PTCHD1 (L221P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220620	NM_173495.3(PTCHD1):c.49C>G (p.Leu17Val)	PTCHD1 (L17V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220619	NM_173495.3(PTCHD1):c.233G>A (p.Arg78His)	PTCHD1 (R78H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3220617	NM_173495.3(PTCHD1):c.2072G>A (p.Arg691Gln)	PTCHD1 (R691Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3220616	NM_173495.3(PTCHD1):c.1781A>T (p.Tyr594Phe)	PTCHD1 (Y594F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067728	NM_173495.3(PTCHD1):c.468C>T (p.Val156=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062548	GRCh37/hg19 Xp22.11(chrX:23280708-23387267)	PTCHD1	Copy number loss	not specified	GPathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3056582	NM_173495.3(PTCHD1):c.1726C>G (p.Leu576Val)	PTCHD1 (L576V)	Single nucleotide variant (missense variant)	PTCHD1-related disorder	GUncertain significance
Select item 3030294	NM_173495.3(PTCHD1):c.1423G>T (p.Ala475Ser)	PTCHD1 (A475S)	Single nucleotide variant (missense variant)	PTCHD1-related disorder	GUncertain significance
Select item 3029971	NM_173495.3(PTCHD1):c.582C>T (p.Gly194=)	PTCHD1	Single nucleotide variant (synonymous variant)	PTCHD1-related disorder	GLikely benign
Select item 3026210	NM_173495.3(PTCHD1):c.708T>C (p.Thr236=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025783	NM_173495.3(PTCHD1):c.456C>T (p.Asp152=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2689840	NM_173495.3(PTCHD1):c.2462G>A (p.Cys821Tyr)	PTCHD1 (C821Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689839	NM_173495.3(PTCHD1):c.1636C>G (p.Gln546Glu)	PTCHD1 (Q546E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2687880	NM_173495.3(PTCHD1):c.2186T>A (p.Leu729His)	PTCHD1 (L729H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685700	GRCh37/hg19 Xp22.11(chrX:23164537-23400286)x1	PTCHD1	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684972	GRCh37/hg19 Xp22.11(chrX:23080577-23874609)x3	ACOT9, APOO +3 more	Copy number gain	not provided	GUncertain significance
Select item 2664744	NM_173495.3(PTCHD1):c.145GAG[1] (p.Glu50del)	PTCHD1 (E50del)	Microsatellite (inframe_deletion)	Autism, susceptibility to, X-linked 4	GUncertain significance
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 2660167	NM_173495.3(PTCHD1):c.855G>A (p.Leu285=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660166	NM_173495.3(PTCHD1):c.801A>C (p.Val267=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660165	NM_173495.3(PTCHD1):c.105C>G (p.Ile35Met)	PTCHD1 (I35M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2634852	NM_173495.3(PTCHD1):c.1491C>A (p.Asn497Lys)	PTCHD1 (N497K)	Single nucleotide variant (missense variant)	PTCHD1-related disorder	GUncertain significance
Select item 2631204	NM_173495.3(PTCHD1):c.1910A>G (p.Asn637Ser)	PTCHD1 (N637S)	Single nucleotide variant (missense variant)	PTCHD1-related disorder	GUncertain significance
Select item 2631061	NM_173495.3(PTCHD1):c.1563G>C (p.Gln521His)	PTCHD1 (Q521H)	Single nucleotide variant (missense variant)	PTCHD1-related disorder	GUncertain significance
Select item 2627883	NM_173495.3(PTCHD1):c.2351_2352insCAT (p.Thr784_Lys785insIle)	PTCHD1	Insertion (inframe_insertion)	Neurodevelopmental disorder	GUncertain significance
Select item 2615390	NM_173495.3(PTCHD1):c.143T>C (p.Val48Ala)	PTCHD1 (V48A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613917	NM_173495.3(PTCHD1):c.1592T>C (p.Ile531Thr)	PTCHD1 (I531T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609112	NM_173495.3(PTCHD1):c.230A>G (p.Asn77Ser)	PTCHD1 (N77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582400	NM_173495.3(PTCHD1):c.1256C>G (p.Ser419Trp)	PTCHD1 (S419W)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	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 2580202	NM_173495.3(PTCHD1):c.475G>A (p.Glu159Lys)	PTCHD1 (E159K)	Single nucleotide variant (missense variant)	PTCHD1-related neurodevelopmental disorder	GUncertain significance
Select item 2579657	GRCh37/hg19 Xp22.11(chrX:23209046-23383351)	PTCHD1	Copy number loss	Autism, susceptibility to, X-linked 4	GPathogenic
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 2578099	NM_173495.3(PTCHD1):c.863C>G (p.Ser288Cys)	PTCHD1 (S288C)	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 2575005	NM_173495.3(PTCHD1):c.170C>A (p.Ala57Glu)	PTCHD1 (A57E)	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 2572692	NM_173495.3(PTCHD1):c.1928T>C (p.Val643Ala)	PTCHD1 (V643A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572274	NM_173495.3(PTCHD1):c.1946T>G (p.Leu649Trp)	PTCHD1 (L649W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541865	NM_173495.3(PTCHD1):c.226G>T (p.Val76Phe)	PTCHD1 (V76F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2506479	NM_173495.3(PTCHD1):c.2097_2098insA (p.Leu700fs)	PTCHD1 (L700fs)	Insertion (frameshift variant)	Autism, susceptibility to, X-linked 4	GLikely pathogenic
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 2504889	NM_173495.3(PTCHD1):c.543G>C (p.Lys181Asn)	PTCHD1 (K181N)	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 2501715	NM_173495.3(PTCHD1):c.1434C>A (p.Tyr478Ter)	PTCHD1 (Y478*)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 4	GLikely pathogenic
Select item 2499957	NM_173495.3(PTCHD1):c.2582dup (p.Asn861fs)	PTCHD1 (N861fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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	GUncertain significance
Select item 2499123	NM_173495.3(PTCHD1):c.1496A>G (p.Tyr499Cys)	PTCHD1 (Y499C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2488277	NM_173495.3(PTCHD1):c.358G>A (p.Ala120Thr)	PTCHD1 (A120T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485413	NM_173495.3(PTCHD1):c.1987G>C (p.Asp663His)	PTCHD1 (D663H)	Single nucleotide variant (missense variant)	PTCHD1-related disorder +1 more	GUncertain significance
Select item 2469057	NM_173495.3(PTCHD1):c.2173G>A (p.Val725Ile)	PTCHD1 (V725I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2446253	NM_173495.3(PTCHD1):c.1765G>A (p.Glu589Lys)	PTCHD1 (E589K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442059	NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr)	PTCHD1 (I153T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2326573	NM_173495.3(PTCHD1):c.1315A>G (p.Ile439Val)	PTCHD1 (I439V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299041	NM_173495.3(PTCHD1):c.1432T>C (p.Tyr478His)	PTCHD1 (Y478H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293265	NM_173495.3(PTCHD1):c.1787G>A (p.Arg596Gln)	PTCHD1 (R596Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263700	NM_173495.3(PTCHD1):c.2038A>T (p.Ile680Phe)	PTCHD1 (I680F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245088	NM_173495.3(PTCHD1):c.79TTC[1] (p.Phe28del)	PTCHD1 (F28del)	Microsatellite (inframe_indel +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231314	NM_173495.3(PTCHD1):c.1706C>G (p.Thr569Ser)	PTCHD1 (T569S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222353	NM_173495.3(PTCHD1):c.799G>A (p.Val267Ile)	PTCHD1 (V267I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2206719	NM_173495.3(PTCHD1):c.1417G>A (p.Glu473Lys)	PTCHD1 (E473K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 1806553	NM_173495.3(PTCHD1):c.1136C>G (p.Thr379Ser)	PTCHD1 (T379S)	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 1800727	NM_173495.3(PTCHD1):c.2489T>A (p.Ile830Lys)	PTCHD1 (I830K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1796175	NM_173495.3(PTCHD1):c.27C>T (p.Gly9=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1791237	NM_173495.3(PTCHD1):c.2436T>C (p.Leu812=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1783888	NM_173495.3(PTCHD1):c.1987G>A (p.Asp663Asn)	PTCHD1 (D663N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1782819	NM_173495.3(PTCHD1):c.1929G>A (p.Val643=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1780977	NM_173495.3(PTCHD1):c.1832A>G (p.Asp611Gly)	PTCHD1 (D611G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1779192	NM_173495.3(PTCHD1):c.1740G>A (p.Lys580=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1772358	NM_173495.3(PTCHD1):c.1425G>A (p.Ala475=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1770900	NM_173495.3(PTCHD1):c.1364C>T (p.Ala455Val)	PTCHD1 (A455V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1769572	NM_173495.3(PTCHD1):c.1308G>A (p.Gln436=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1767638	NM_173495.3(PTCHD1):c.963del (p.Gly322fs)	PTCHD1 (G322fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1762042	NM_173495.3(PTCHD1):c.810T>C (p.Arg270=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1761117	NM_173495.3(PTCHD1):c.78C>T (p.Val26=)	PTCHD1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign

<< First< Prev

Page of 4