Related gene-specific medical variations for Gene (Select 139411) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3361318	NM_173495.3(PTCHD1):c.251A>G (p.Tyr84Cys)	PTCHD1 (Y84C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360831	NM_173495.3(PTCHD1):c.2353A>G (p.Lys785Glu)	PTCHD1 (K785E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062548	GRCh37/hg19 Xp22.11(chrX:23280708-23387267)	PTCHD1	Copy number loss	not specified	GPathogenic
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 2685700	GRCh37/hg19 Xp22.11(chrX:23164537-23400286)x1	PTCHD1	Copy number loss	not provided	GPathogenic
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 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 1526772	GRCh37/hg19 Xp22.11(chrX:23198764-23542640)	PTCHD1	Copy number loss	not specified	GPathogenic
Select item 986799	NM_173495.3(PTCHD1):c.1794_1806del (p.Asn599fs)	PTCHD1 (N599fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 975762	NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg)	PTCHD1 (G300R)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 972928	GRCh37/hg19 Xp22.11(chrX:23351116-23530035)x3	PTCHD1	Copy number gain	not provided	Gnot provided
Select item 685443	GRCh37/hg19 Xp22.11(chrX:23265411-23414872)x3	PTCHD1	Copy number gain	not provided	GUncertain significance
Select item 685338	GRCh37/hg19 Xp22.11(chrX:23195843-23457401)x0	PTCHD1	Copy number loss	not provided	GPathogenic
Select item 684479	Single allele	PTCHD1	Duplication	not provided	Gnot provided
Select item 564801	GRCh37/hg19 Xp22.11(chrX:23358556-23569512)x2	PTCHD1	Copy number gain	not provided	GUncertain significance
Select item 443948	GRCh37/hg19 Xp22.11(chrX:23385757-23448084)x0	PTCHD1	Copy number loss	See cases	GUncertain significance
Select item 442877	GRCh37/hg19 Xp22.11(chrX:23351370-23449835)x0	PTCHD1	Copy number loss	See cases	GPathogenic
Select item 442569	GRCh37/hg19 Xp22.11(chrX:23375707-23448084)x0	PTCHD1	Copy number loss	See cases	GUncertain significance
Select item 441689	GRCh37/hg19 Xp22.11(chrX:23340817-23395070)x1	PTCHD1	Copy number loss	See cases	GLikely benign
Select item 440215	NM_173495.3(PTCHD1):c.881G>A (p.Arg294His)	PTCHD1 (R294H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 100892	NM_173495.3(PTCHD1):c.1230C>A (p.Ile410=)	PTCHD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Links from Gene

Items: 25