ClinVar for MedGen (Select 162886) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383118	NM_173495.3(PTCHD1):c.974A>G (p.Tyr325Cys)	PTCHD1 (Y325C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 3376263	NM_173495.3(PTCHD1):c.1164dup (p.Gly389fs)	PTCHD1 (G389fs)	Duplication (frameshift variant)	Autism, susceptibility to, X-linked 4	GLikely pathogenic
Select item 3370290	NM_173495.3(PTCHD1):c.1930del (p.Ala644fs)	PTCHD1 (A644fs)	Deletion (frameshift variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
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 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 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 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 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 2579657	GRCh37/hg19 Xp22.11(chrX:23209046-23383351)	PTCHD1	Copy number loss	Autism, susceptibility to, X-linked 4	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 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 2499571	NM_173495.3(PTCHD1):c.1786C>T (p.Arg596Trp)	PTCHD1 (R596W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2442059	NM_173495.3(PTCHD1):c.458T>C (p.Ile153Thr)	PTCHD1 (I153T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2299041	NM_173495.3(PTCHD1):c.1432T>C (p.Tyr478His)	PTCHD1 (Y478H)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4 +1 more	GConflicting classifications of pathogenicity
Select item 1707515	NM_173495.3(PTCHD1):c.1557T>G (p.Tyr519Ter)	PTCHD1 (Y519*)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 4	GLikely pathogenic
Select item 1334078	NM_173495.3(PTCHD1):c.448G>A (p.Val150Met)	PTCHD1 (V150M)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 1251937	NM_173495.3(PTCHD1):c.1434C>G (p.Tyr478Ter)	PTCHD1 (Y478*)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 4	GLikely pathogenic
Select item 988746	NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)	PTCHD1 (Y213C)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 988740	NM_173495.3(PTCHD1):c.1975GAA[1] (p.Glu660del)	PTCHD1 (E660del)	Microsatellite (inframe_deletion)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 988737	NM_173495.3(PTCHD1):c.1435G>A (p.Glu479Lys)	PTCHD1 (E479K)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 976073	NM_173495.3(PTCHD1):c.47G>A (p.Arg16Gln)	PTCHD1 (R16Q)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 620004	NM_173495.3(PTCHD1):c.95C>T (p.Pro32Leu)	PTCHD1 (P32L)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 589280	NM_173495.3(PTCHD1):c.115C>T (p.Leu39Phe)	PTCHD1 (L39F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 547391	NM_001368397.1(FRMPD4):c.981T>C (p.Tyr327=)	FRMPD4	Single nucleotide variant (synonymous variant)	Autism, susceptibility to, X-linked 4	GLikely benign
Select item 436440	NM_173495.3(PTCHD1):c.893G>A (p.Trp298Ter)	PTCHD1 (W298*)	Single nucleotide variant (nonsense)	Autism, susceptibility to, X-linked 4	GLikely pathogenic
Select item 431366	NM_173495.3(PTCHD1):c.113T>A (p.Leu38Gln)	PTCHD1 (L38Q)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 417957	NM_173495.3(PTCHD1):c.907G>A (p.Gly303Arg)	PTCHD1 (G303R)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 402218	NM_173495.3(PTCHD1):c.542A>C (p.Lys181Thr)	PTCHD1 (K181T)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4 +1 more	GLikely pathogenic
Select item 211971	NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val)	PTCHD1 (I173V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 209087	NM_173495.3(PTCHD1):c.1444del (p.Leu482fs)	PTCHD1 (L482fs)	Deletion (frameshift variant)	Autism, susceptibility to, X-linked 4	Grisk factor
Select item 209086	NM_173495.3(PTCHD1):c.1796dup (p.Asn599fs)	PTCHD1 (N599fs)	Duplication (frameshift variant)	Autism, susceptibility to, X-linked 4	Grisk factor
Select item 209085	NM_173495.3(PTCHD1):c.2128del (p.Leu710fs)	PTCHD1 (L710fs)	Deletion (frameshift variant)	Autism, susceptibility to, X-linked 4	Grisk factor
Select item 167103	NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=)	FRMPD4	Single nucleotide variant (synonymous variant)	Autism, susceptibility to, X-linked 4 +2 more	GConflicting classifications of pathogenicity

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Items: 33