ClinVar for MedGen (Select 82697) - ClinVar

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Items: 34

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24417941.	NM_015922.3(NSDHL):c.387del (p.Ile129fs) GRCh37: ChrX:152027432 GRCh38: ChrX:152858888	NSDHL	I129fs	Child syndrome, CK syndrome	Likely pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 18013632.	NM_015922.3(NSDHL):c.43C>T (p.Arg15Trp) GRCh37: ChrX:152014911 GRCh38: ChrX:152846367	NSDHL	R15W	CK syndrome, Child syndrome, not provided	Uncertain significance (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16110003.	NM_015922.3(NSDHL):c.612C>T (p.Phe204=) GRCh37: ChrX:152034431 GRCh38: ChrX:152865887	NSDHL		Child syndrome, CK syndrome, not provided	Benign/Likely benign (Oct 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 15482684.	NM_015922.3(NSDHL):c.268-15dup GRCh37: ChrX:152027296-152027297 GRCh38: ChrX:152858752-152858753	NSDHL		Child syndrome, CK syndrome, not provided	Benign/Likely benign (Nov 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14689395.	NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg) GRCh37: ChrX:152037569 GRCh38: ChrX:152869025	NSDHL	K344R	Child syndrome, CK syndrome, not provided	Uncertain significance (Jul 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13617406.	NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser) GRCh37: ChrX:152034379 GRCh38: ChrX:152865835	NSDHL	N187S	not provided, CK syndrome, Child syndrome	Uncertain significance (Jan 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13366857.	NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) GRCh37: ChrX:152018965 GRCh38: ChrX:152850421	NSDHL	Q89E	Child syndrome, CK syndrome, not specified	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13116698.	NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln) GRCh37: ChrX:152018963 GRCh38: ChrX:152850419	NSDHL	R88Q	CK syndrome, Child syndrome, not provided	Uncertain significance (Dec 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 12975209.	NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) GRCh37: ChrX:152037485 GRCh38: ChrX:152868941	NSDHL	P316R	CK syndrome, Child syndrome	Uncertain significance (Nov 9, 2021)	criteria provided, single submitter
Select item 80409910.	NM_015922.3(NSDHL):c.*129C>T GRCh37: ChrX:152037789 GRCh38: ChrX:152869245	NSDHL		Child syndrome	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80090111.	NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) GRCh37: ChrX:152027363 GRCh38: ChrX:152858819	NSDHL	S106L	Child syndrome	Likely pathogenic (Sep 26, 2019)	no assertion criteria provided
Select item 77227812.	NM_015922.3(NSDHL):c.987C>T (p.Val329=) GRCh37: ChrX:152037525 GRCh38: ChrX:152868981	NSDHL		not provided, CK syndrome, Child syndrome	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71818713.	NM_015922.3(NSDHL):c.834C>T (p.Phe278=) GRCh37: ChrX:152037372 GRCh38: ChrX:152868828	NSDHL		CK syndrome, Child syndrome, not provided	Benign/Likely benign (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70716214.	NM_015922.3(NSDHL):c.306C>T (p.Phe102=) GRCh37: ChrX:152027352 GRCh38: ChrX:152858808	NSDHL		Connective tissue disorder, CK syndrome, Child syndrome, not provided	Benign/Likely benign (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70600915.	NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu) GRCh37: ChrX:152037431 GRCh38: ChrX:152868887	NSDHL	W298L	not provided, CK syndrome, Child syndrome	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70349316.	NM_015922.3(NSDHL):c.678C>T (p.Phe226=) GRCh37: ChrX:152034497 GRCh38: ChrX:152865953	NSDHL		CK syndrome, Child syndrome, not provided	Benign/Likely benign (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69811717.	NM_015922.3(NSDHL):c.351T>C (p.Phe117=) GRCh37: ChrX:152027397 GRCh38: ChrX:152858853	NSDHL		Child syndrome, CK syndrome, not provided	Benign/Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37397518.	NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) GRCh37: ChrX:152037592 GRCh38: ChrX:152869048	NSDHL	L352V	Child syndrome, CK syndrome, CK syndrome	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21174819.	NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) GRCh37: ChrX:152037575-152037576 GRCh38: ChrX:152869031-152869032	NSDHL	G348fs	Child syndrome	Pathogenic (Feb 8, 2013)	criteria provided, single submitter
Select item 15945720.	NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) GRCh37: ChrX:152037444 GRCh38: ChrX:152868900	NSDHL	Y302*	Child syndrome	Pathogenic (Feb 8, 2013)	criteria provided, single submitter
Select item 15945621.	NM_015922.3(NSDHL):c.904del (p.Tyr302fs) GRCh37: ChrX:152037442 GRCh38: ChrX:152868898	NSDHL	Y302fs	Child syndrome	Pathogenic (Feb 8, 2013)	criteria provided, single submitter
Select item 15945422.	NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) GRCh37: ChrX:152036185 GRCh38: ChrX:152867641	NSDHL	Q253*	Child syndrome	Pathogenic (Mar 31, 2014)	criteria provided, single submitter
Select item 15945323.	NM_015922.3(NSDHL):c.727G>A (p.Val243Met) GRCh37: ChrX:152036155 GRCh38: ChrX:152867611	NSDHL	V243M	not provided, Child syndrome	Conflicting interpretations of pathogenicity (Aug 11, 2020)	criteria provided, conflicting interpretations
Select item 15945224.	NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) GRCh37: ChrX:152034414 GRCh38: ChrX:152865870	NSDHL	R199C	not provided, Child syndrome	Conflicting interpretations of pathogenicity (Aug 28, 2021)	criteria provided, conflicting interpretations
Select item 15945025.	NM_015922.3(NSDHL):c.132T>G (p.Gly44=) GRCh37: ChrX:152018832 GRCh38: ChrX:152850288	NSDHL		not specified, not provided, CK syndrome, Child syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15944926.	NM_015922.3(NSDHL):c.1114del (p.Val372fs) GRCh37: ChrX:152037650 GRCh38: ChrX:152869106	NSDHL	V372fs	Child syndrome	Likely pathogenic (Feb 8, 2013)	criteria provided, single submitter
Select item 15944827.	NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) GRCh37: ChrX:152037592 GRCh38: ChrX:152869048	NSDHL		Connective tissue disorder, Child syndrome, CK syndrome, not provided, not specified, CK syndrome	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2126528.	NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) GRCh37: ChrX:152037584 GRCh38: ChrX:152869040	NSDHL	Y349C	not provided	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 1143129.	NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) GRCh37: ChrX:152031176 GRCh38: ChrX:152862632	NSDHL	E151*	Child syndrome	Pathogenic (Oct 15, 2003)	no assertion criteria provided
Select item 1143030.	NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) GRCh37: ChrX:152034363 GRCh38: ChrX:152865819	NSDHL	A182P	Child syndrome	Pathogenic (Apr 1, 2002)	no assertion criteria provided
Select item 1142931.	NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) GRCh37: ChrX:152018962 GRCh38: ChrX:152850418	NSDHL	R88*	Child syndrome	Pathogenic (Feb 14, 2000)	no assertion criteria provided
Select item 1142832.	NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) GRCh37: ChrX:152034447 GRCh38: ChrX:152865903	NSDHL	Q210*	Child syndrome	Pathogenic (Feb 14, 2000)	no assertion criteria provided
Select item 1142733.	NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) GRCh37: ChrX:152034432 GRCh38: ChrX:152865888	NSDHL	G205S	Child syndrome	Pathogenic (Feb 14, 2000)	no assertion criteria provided
Select item 1142634.	NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) GRCh37: ChrX:152027360 GRCh38: ChrX:152858816	NSDHL	A105V	not provided	Likely pathogenic (Aug 1, 2022)	criteria provided, single submitter

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Items: 34