ClinVar for MedGen (Select 1665943) - ClinVar

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Items: 23

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24388701.	NM_138422.4(ADAT3):c.947A>C (p.His316Pro) GRCh37: Chr19:1912993 GRCh38: Chr19:1912994	ADAT3, SCAMP4	H300P, H316P	Intellectual disability-strabismus syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 24388692.	NM_138422.4(ADAT3):c.874C>T (p.Pro292Ser) GRCh37: Chr19:1912920 GRCh38: Chr19:1912921	ADAT3, SCAMP4	P276S, P292S	Intellectual disability-strabismus syndrome	Uncertain significance (Dec 7, 2021)	criteria provided, single submitter
Select item 18013653.	NM_138422.4(ADAT3):c.551A>G (p.Gln184Arg) GRCh37: Chr19:1912597 GRCh38: Chr19:1912598	ADAT3, SCAMP4	Q168R, Q184R	Intellectual disability-strabismus syndrome	Uncertain significance (Jun 12, 2020)	criteria provided, single submitter
Select item 18013644.	NM_138422.4(ADAT3):c.545C>T (p.Ser182Phe) GRCh37: Chr19:1912591 GRCh38: Chr19:1912592	SCAMP4, ADAT3	S166F, S182F	Intellectual disability-strabismus syndrome	Uncertain significance (Jun 12, 2020)	criteria provided, single submitter
Select item 17096725.	NM_138422.4(ADAT3):c.877T>A (p.Tyr293Asn) GRCh37: Chr19:1912923 GRCh38: Chr19:1912924	SCAMP4, ADAT3	Y277N, Y293N	Intellectual disability-strabismus syndrome	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 17090986.	NM_138422.4(ADAT3):c.875C>T (p.Pro292Leu) GRCh37: Chr19:1912921 GRCh38: Chr19:1912922	ADAT3, SCAMP4	P276L, P292L	Intellectual disability-strabismus syndrome	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 17090977.	NM_138422.4(ADAT3):c.292C>G (p.Arg98Gly) GRCh37: Chr19:1912338 GRCh38: Chr19:1912339	ADAT3, SCAMP4	R82G, R98G	Intellectual disability-strabismus syndrome	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 17074478.	NM_138422.4(ADAT3):c.427C>G (p.Pro143Ala) GRCh37: Chr19:1912473 GRCh38: Chr19:1912474	ADAT3, SCAMP4	P127A, P143A	Intellectual disability-strabismus syndrome	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 16990799.	NM_138422.4(ADAT3):c.748C>T (p.Arg250Cys) GRCh37: Chr19:1912794 GRCh38: Chr19:1912795	ADAT3, SCAMP4	R234C, R250C	Intellectual disability-strabismus syndrome	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 133406110.	NM_138422.4(ADAT3):c.941T>C (p.Leu314Pro) GRCh37: Chr19:1912987 GRCh38: Chr19:1912988	ADAT3, SCAMP4	L298P, L314P	Intellectual disability-strabismus syndrome	Uncertain significance (Feb 25, 2020)	criteria provided, single submitter
Select item 133406011.	NM_138422.4(ADAT3):c.482_487dup (p.His161_Trp162dup) GRCh37: Chr19:1912526-1912527 GRCh38: Chr19:1912527-1912528	ADAT3, SCAMP4		Intellectual disability-strabismus syndrome	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 118554212.	NM_138422.4(ADAT3):c.888T>C (p.Thr296=) GRCh37: Chr19:1912934 GRCh38: Chr19:1912935	ADAT3, SCAMP4		Intellectual disability-strabismus syndrome, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103307813.	NM_138422.4(ADAT3):c.897C>G (p.Asp299Glu) GRCh37: Chr19:1912943 GRCh38: Chr19:1912944	ADAT3, SCAMP4	D299E, D283E	Intellectual disability-strabismus syndrome	Uncertain significance (Oct 15, 2018)	criteria provided, single submitter
Select item 103241814.	NM_138422.4(ADAT3):c.338C>G (p.Ala113Gly) GRCh37: Chr19:1912384 GRCh38: Chr19:1912385	ADAT3, SCAMP4	A97G, A113G	Intellectual disability-strabismus syndrome	Uncertain significance (Apr 18, 2018)	criteria provided, single submitter
Select item 103241715.	NM_138422.4(ADAT3):c.1001G>T (p.Gly334Val) GRCh37: Chr19:1913047 GRCh38: Chr19:1913048	ADAT3, SCAMP4	G318V, G334V	Intellectual disability-strabismus syndrome	Uncertain significance (Jan 2, 2018)	criteria provided, single submitter
Select item 102912716.	NM_138422.4(ADAT3):c.54G>C (p.Glu18Asp) GRCh37: Chr19:1912100 GRCh38: Chr19:1912101	ADAT3, SCAMP4	E2D, E18D	Intellectual disability-strabismus syndrome	Uncertain significance (Aug 8, 2019)	criteria provided, single submitter
Select item 98308017.	NM_138422.4(ADAT3):c.820dup (p.Gln274fs) GRCh37: Chr19:1912860-1912861 GRCh38: Chr19:1912861-1912862	ADAT3, SCAMP4	Q258fs, Q274fs	Intellectual disability-strabismus syndrome, not provided	Uncertain significance (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97531718.	NM_138422.4(ADAT3):c.751G>A (p.Gly251Ser) GRCh37: Chr19:1912797 GRCh38: Chr19:1912798	ADAT3, SCAMP4	G235S, G251S	Intellectual disability-strabismus syndrome, Inborn genetic diseases	Uncertain significance (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54983919.	NM_138422.4(ADAT3):c.99_106dup (p.Glu36fs) GRCh37: Chr19:1912140-1912141 GRCh38: Chr19:1912141-1912142	ADAT3, SCAMP4	E36fs, E20fs	Intellectual disability-strabismus syndrome	Pathogenic (Sep 10, 2021)	no assertion criteria provided
Select item 52397720.	NM_138422.4(ADAT3):c.586del (p.Ala196fs) GRCh37: Chr19:1912630 GRCh38: Chr19:1912631	SCAMP4, ADAT3	A196fs, A180fs	Intellectual disability-strabismus syndrome, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2022)	criteria provided, conflicting interpretations
Select item 43408321.	NM_138422.4(ADAT3):c.440G>A (p.Arg147Gln) GRCh37: Chr19:1912486 GRCh38: Chr19:1912487	ADAT3, SCAMP4	R147Q, R131Q	Intellectual disability-strabismus syndrome, not specified	Uncertain significance (Mar 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43408122.	NM_138422.4(ADAT3):c.59C>T (p.Ala20Val) GRCh37: Chr19:1912105 GRCh38: Chr19:1912106	ADAT3, SCAMP4	A20V, A4V	Intellectual disability-strabismus syndrome, not specified	Uncertain significance (Oct 5, 2018)	criteria provided, multiple submitters, no conflicts
Select item 18330123.	NM_138422.4(ADAT3):c.430G>A (p.Val144Met) GRCh37: Chr19:1912476 GRCh38: Chr19:1912477	ADAT3, SCAMP4	V144M, V128M	Intellectual disability-strabismus syndrome, not provided	Pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 23