ClinVar for MedGen (Select 346852) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24442451.	NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn) GRCh37: Chr17:79479141 GRCh38: Chr17:81512115	ACTG1	D51N	Autosomal dominant nonsyndromic hearing loss 20	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24209872.	NM_001614.5(ACTG1):c.553C>T (p.Leu185=) GRCh37: Chr17:79478463 GRCh38: Chr17:81511437	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 24176623.	NM_001614.5(ACTG1):c.933C>T (p.Asp311=) GRCh37: Chr17:79478004 GRCh38: Chr17:81510978	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 21966004.	NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp) GRCh37: Chr17:79478327 GRCh38: Chr17:81511301	ACTG1	A230D	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 21964775.	NM_001614.5(ACTG1):c.364-15C>G GRCh37: Chr17:79478667 GRCh38: Chr17:81511641	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 21947666.	NM_001614.5(ACTG1):c.123+15C>T GRCh37: Chr17:79479243 GRCh38: Chr17:81512217	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 21940927.	NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr) GRCh37: Chr17:79478358 GRCh38: Chr17:81511332	ACTG1	A220T	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 21811918.	NM_001614.5(ACTG1):c.378C>G (p.Thr126=) GRCh37: Chr17:79478638 GRCh38: Chr17:81511612	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 21774379.	NM_001614.5(ACTG1):c.906C>T (p.Gly302=) GRCh37: Chr17:79478031 GRCh38: Chr17:81511005	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 216684110.	NM_001614.5(ACTG1):c.984+12G>A GRCh37: Chr17:79477941 GRCh38: Chr17:81510915	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 216466511.	NM_001614.5(ACTG1):c.219T>C (p.His73=) GRCh37: Chr17:79479073 GRCh38: Chr17:81512047	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 215229412.	NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys) GRCh37: Chr17:79478582 GRCh38: Chr17:81511556	ACTG1	S145C	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 214959913.	NM_001614.5(ACTG1):c.753C>T (p.Gly251=) GRCh37: Chr17:79478263 GRCh38: Chr17:81511237	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 214712114.	NM_001614.5(ACTG1):c.9A>G (p.Glu3=) GRCh37: Chr17:79479372 GRCh38: Chr17:81512346	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 214579415.	NM_001614.5(ACTG1):c.339G>A (p.Lys113=) GRCh37: Chr17:79478953 GRCh38: Chr17:81511927	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 212166216.	NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala) GRCh37: Chr17:79478640 GRCh38: Chr17:81511614	ACTG1	T126A	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 209882917.	NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser) GRCh37: Chr17:79478120 GRCh38: Chr17:81511094	ACTG1	G273S	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Sep 18, 2022)	criteria provided, single submitter
Select item 209778518.	NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu) GRCh37: Chr17:79477994 GRCh38: Chr17:81510968	ACTG1	K315E	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 209097719.	NM_001614.5(ACTG1):c.984+7C>G GRCh37: Chr17:79477946 GRCh38: Chr17:81510920	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 209064120.	NM_001614.5(ACTG1):c.489G>C (p.Val163=) GRCh37: Chr17:79478527 GRCh38: Chr17:81511501	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 208919721.	NM_001614.5(ACTG1):c.364-15C>T GRCh37: Chr17:79478667 GRCh38: Chr17:81511641	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 208714722.	NM_001614.5(ACTG1):c.124-6C>T GRCh37: Chr17:79479174 GRCh38: Chr17:81512148	ACTG1		Inborn genetic diseases, Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Conflicting interpretations of pathogenicity (Oct 15, 2022)	criteria provided, conflicting interpretations
Select item 208387823.	NM_001614.5(ACTG1):c.747C>T (p.Thr249=) GRCh37: Chr17:79478269 GRCh38: Chr17:81511243	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 207544024.	NM_001614.5(ACTG1):c.660C>T (p.Ala220=) GRCh37: Chr17:79478356 GRCh38: Chr17:81511330	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 207352525.	NM_001614.5(ACTG1):c.240C>T (p.Asp80=) GRCh37: Chr17:79479052 GRCh38: Chr17:81512026	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 207343626.	NM_001614.5(ACTG1):c.985-25_985-10dup GRCh37: Chr17:79477868-79477869 GRCh38: Chr17:81510842-81510843	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 207253627.	NM_001614.5(ACTG1):c.990C>T (p.Ile330=) GRCh37: Chr17:79477854 GRCh38: Chr17:81510828	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 207132428.	NM_001614.5(ACTG1):c.483C>T (p.His161=) GRCh37: Chr17:79478533 GRCh38: Chr17:81511507	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 207092229.	NM_001614.5(ACTG1):c.363+10G>T GRCh37: Chr17:79478919 GRCh38: Chr17:81511893	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 206951630.	NM_001614.5(ACTG1):c.984+8G>A GRCh37: Chr17:79477945 GRCh38: Chr17:81510919	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 206103631.	NM_001614.5(ACTG1):c.174C>T (p.Ala58=) GRCh37: Chr17:79479118 GRCh38: Chr17:81512092	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 205587732.	NM_001614.5(ACTG1):c.840C>T (p.Asn280=) GRCh37: Chr17:79478097 GRCh38: Chr17:81511071	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 205587633.	NM_001614.5(ACTG1):c.153C>T (p.Asp51=) GRCh37: Chr17:79479139 GRCh38: Chr17:81512113	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 205505534.	NM_001614.5(ACTG1):c.525C>A (p.Ile175=) GRCh37: Chr17:79478491 GRCh38: Chr17:81511465	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 205352835.	NM_001614.5(ACTG1):c.1044A>T (p.Ser348=) GRCh37: Chr17:79477800 GRCh38: Chr17:81510774	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 205290636.	NM_001614.5(ACTG1):c.426C>T (p.Leu142=) GRCh37: Chr17:79478590 GRCh38: Chr17:81511564	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 204593237.	NM_001614.5(ACTG1):c.420G>A (p.Leu140=) GRCh37: Chr17:79478596 GRCh38: Chr17:81511570	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 204360238.	NM_001614.5(ACTG1):c.909C>A (p.Thr303=) GRCh37: Chr17:79478028 GRCh38: Chr17:81511002	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 204108139.	NM_001614.5(ACTG1):c.234C>T (p.Asn78=) GRCh37: Chr17:79479058 GRCh38: Chr17:81512032	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 204106840.	NM_001614.5(ACTG1):c.123+18C>T GRCh37: Chr17:79479240 GRCh38: Chr17:81512214	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 204045541.	NM_001614.5(ACTG1):c.900G>A (p.Ser300=) GRCh37: Chr17:79478037 GRCh38: Chr17:81511011	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 203835642.	NM_001614.5(ACTG1):c.852G>A (p.Lys284=) GRCh37: Chr17:79478085 GRCh38: Chr17:81511059	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 203806543.	NM_001614.5(ACTG1):c.1036C>T (p.Leu346=) GRCh37: Chr17:79477808 GRCh38: Chr17:81510782	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Jul 24, 2019)	criteria provided, single submitter
Select item 203778944.	NM_001614.5(ACTG1):c.692C>T (p.Ala231Val) GRCh37: Chr17:79478324 GRCh38: Chr17:81511298	ACTG1	A231V	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 203738345.	NM_001614.5(ACTG1):c.414C>A (p.Ala138=) GRCh37: Chr17:79478602 GRCh38: Chr17:81511576	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 203477846.	NM_001614.5(ACTG1):c.636C>T (p.Ile212=) GRCh37: Chr17:79478380 GRCh38: Chr17:81511354	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 202548747.	NM_001614.5(ACTG1):c.364-3C>G GRCh37: Chr17:79478655 GRCh38: Chr17:81511629	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 201413348.	NM_001614.5(ACTG1):c.803-18del GRCh37: Chr17:79478152 GRCh38: Chr17:81511126	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 200932049.	NM_001614.5(ACTG1):c.675G>A (p.Gln225=) GRCh37: Chr17:79478341 GRCh38: Chr17:81511315	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jun 17, 2022)	criteria provided, single submitter
Select item 200581250.	NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg) GRCh37: Chr17:79477780 GRCh38: Chr17:81510754	ACTG1	M355R	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 200331951.	NM_001614.5(ACTG1):c.898T>G (p.Ser300Ala) GRCh37: Chr17:79478039 GRCh38: Chr17:81511013	ACTG1	S300A	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 200311952.	NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala) GRCh37: Chr17:79479104 GRCh38: Chr17:81512078	ACTG1	G63A	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 199449453.	NM_001614.5(ACTG1):c.431C>T (p.Ala144Val) GRCh37: Chr17:79478585 GRCh38: Chr17:81511559	ACTG1	A144V	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 197127354.	NM_001614.5(ACTG1):c.276C>T (p.Asn92=) GRCh37: Chr17:79479016 GRCh38: Chr17:81511990	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 196663755.	NM_001614.5(ACTG1):c.803-11C>T GRCh37: Chr17:79478145 GRCh38: Chr17:81511119	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 196096356.	NM_001614.5(ACTG1):c.882C>T (p.Tyr294=) GRCh37: Chr17:79478055 GRCh38: Chr17:81511029	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 195611457.	NM_001614.5(ACTG1):c.414C>G (p.Ala138=) GRCh37: Chr17:79478602 GRCh38: Chr17:81511576	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 194723358.	NM_001614.5(ACTG1):c.364-16C>T GRCh37: Chr17:79478668 GRCh38: Chr17:81511642	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Feb 14, 2022)	criteria provided, single submitter
Select item 194715759.	NM_001614.5(ACTG1):c.984+20G>A GRCh37: Chr17:79477933 GRCh38: Chr17:81510907	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Nov 25, 2021)	criteria provided, single submitter
Select item 193468360.	NM_001614.5(ACTG1):c.567C>T (p.Leu189=) GRCh37: Chr17:79478449 GRCh38: Chr17:81511423	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Dec 6, 2021)	criteria provided, single submitter
Select item 193371561.	NM_001614.5(ACTG1):c.1050C>T (p.Ser350=) GRCh37: Chr17:79477794 GRCh38: Chr17:81510768	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 192823762.	NM_001614.5(ACTG1):c.195G>A (p.Leu65=) GRCh37: Chr17:79479097 GRCh38: Chr17:81512071	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 192792063.	NM_001614.5(ACTG1):c.243C>T (p.Asp81=) GRCh37: Chr17:79479049 GRCh38: Chr17:81512023	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 192103464.	NM_001614.5(ACTG1):c.876C>T (p.Asp292=) GRCh37: Chr17:79478061 GRCh38: Chr17:81511035	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 191810465.	NM_001614.5(ACTG1):c.813T>C (p.Ser271=) GRCh37: Chr17:79478124 GRCh38: Chr17:81511098	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 191244066.	NM_001614.5(ACTG1):c.1098C>G (p.Gly366=) GRCh37: Chr17:79477746 GRCh38: Chr17:81510720	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 181030367.	NM_001614.5(ACTG1):c.824A>G (p.His275Arg) GRCh37: Chr17:79478113 GRCh38: Chr17:81511087	ACTG1	H275R	Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	not provided	no assertion provided
Select item 180991768.	NM_001614.5(ACTG1):c.192C>A (p.Ile64=) GRCh37: Chr17:79479100 GRCh38: Chr17:81512074	ACTG1		not provided, Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Conflicting interpretations of pathogenicity (Oct 29, 2022)	criteria provided, conflicting interpretations
Select item 171887569.	NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg) GRCh37: Chr17:79477996 GRCh38: Chr17:81510970	ACTG1	Q314R	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 171725070.	NM_001614.5(ACTG1):c.828G>C (p.Glu276Asp) GRCh37: Chr17:79478109 GRCh38: Chr17:81511083	ACTG1	E276D	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 171233071.	NM_001614.5(ACTG1):c.197C>T (p.Thr66Ile) GRCh37: Chr17:79479095 GRCh38: Chr17:81512069	ACTG1	T66I	Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 170565272.	NM_001614.5(ACTG1):c.914T>C (p.Met305Thr) GRCh37: Chr17:79478023 GRCh38: Chr17:81510997	ACTG1	M305T	Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 169911973.	NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr) GRCh37: Chr17:79478496 GRCh38: Chr17:81511470	ACTG1	A174T	Autosomal dominant nonsyndromic hearing loss 20	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 168523474.	NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe) GRCh37: Chr17:79478582 GRCh38: Chr17:81511556	ACTG1	S145F	Autosomal dominant nonsyndromic hearing loss 20	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 166444275.	NM_001614.5(ACTG1):c.1122C>T (p.Cys374=) GRCh37: Chr17:79477722 GRCh38: Chr17:81510696	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 165472576.	NM_001614.5(ACTG1):c.510C>T (p.Ala170=) GRCh37: Chr17:79478506 GRCh38: Chr17:81511480	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 164356377.	NM_001614.5(ACTG1):c.1056C>T (p.Phe352=) GRCh37: Chr17:79477788 GRCh38: Chr17:81510762	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (May 27, 2021)	criteria provided, single submitter
Select item 163808578.	NM_001614.5(ACTG1):c.363+20C>T GRCh37: Chr17:79478909 GRCh38: Chr17:81511883	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 163249779.	NM_001614.5(ACTG1):c.87C>T (p.Ala29=) GRCh37: Chr17:79479294 GRCh38: Chr17:81512268	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 163185280.	NM_001614.5(ACTG1):c.985-20G>A GRCh37: Chr17:79477879 GRCh38: Chr17:81510853	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 162306681.	NM_001614.5(ACTG1):c.363+17G>A GRCh37: Chr17:79478912 GRCh38: Chr17:81511886	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 161837882.	NM_001614.5(ACTG1):c.585G>A (p.Glu195=) GRCh37: Chr17:79478431 GRCh38: Chr17:81511405	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 161522983.	NM_001614.5(ACTG1):c.981C>A (p.Ile327=) GRCh37: Chr17:79477956 GRCh38: Chr17:81510930	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 2, 2021)	criteria provided, single submitter
Select item 161392084.	NM_001614.5(ACTG1):c.803-20G>C GRCh37: Chr17:79478154 GRCh38: Chr17:81511128	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Dec 15, 2020)	criteria provided, single submitter
Select item 161371085.	NM_001614.5(ACTG1):c.803-5C>T GRCh37: Chr17:79478139 GRCh38: Chr17:81511113	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 159379886.	NM_001614.5(ACTG1):c.447T>C (p.Thr149=) GRCh37: Chr17:79478569 GRCh38: Chr17:81511543	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 158636087.	NM_001614.5(ACTG1):c.387C>A (p.Thr129=) GRCh37: Chr17:79478629 GRCh38: Chr17:81511603	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Oct 8, 2021)	criteria provided, single submitter
Select item 158263988.	NM_001614.5(ACTG1):c.1008G>A (p.Lys336=) GRCh37: Chr17:79477836 GRCh38: Chr17:81510810	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Jul 24, 2021)	criteria provided, single submitter
Select item 158096289.	NM_001614.5(ACTG1):c.363+11G>C GRCh37: Chr17:79478918 GRCh38: Chr17:81511892	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 156434490.	NM_001614.5(ACTG1):c.364-13T>C GRCh37: Chr17:79478665 GRCh38: Chr17:81511639	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 156265991.	NM_001614.5(ACTG1):c.1110C>T (p.Val370=) GRCh37: Chr17:79477734 GRCh38: Chr17:81510708	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 155834692.	NM_001614.5(ACTG1):c.1101C>T (p.Pro367=) GRCh37: Chr17:79477743 GRCh38: Chr17:81510717	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Nov 14, 2021)	criteria provided, single submitter
Select item 154991593.	NM_001614.5(ACTG1):c.687C>T (p.Thr229=) GRCh37: Chr17:79478329 GRCh38: Chr17:81511303	ACTG1		Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 154590694.	NM_001614.5(ACTG1):c.888C>T (p.Asn296=) GRCh37: Chr17:79478049 GRCh38: Chr17:81511023	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Aug 5, 2021)	criteria provided, single submitter
Select item 153781595.	NM_001614.5(ACTG1):c.363+20C>G GRCh37: Chr17:79478909 GRCh38: Chr17:81511883	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Feb 13, 2021)	criteria provided, single submitter
Select item 153250596.	NM_001614.5(ACTG1):c.1053C>G (p.Thr351=) GRCh37: Chr17:79477791 GRCh38: Chr17:81510765	ACTG1		Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely benign (Sep 9, 2021)	criteria provided, single submitter
Select item 152606597.	NM_001614.5(ACTG1):c.848T>C (p.Met283Thr) GRCh37: Chr17:79478089 GRCh38: Chr17:81511063	ACTG1	M283T	Autosomal dominant nonsyndromic hearing loss 20	Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149456698.	NM_001614.5(ACTG1):c.389C>A (p.Pro130Gln) GRCh37: Chr17:79478627 GRCh38: Chr17:81511601	ACTG1	P130Q	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Oct 5, 2021)	criteria provided, single submitter
Select item 149310999.	NM_001614.5(ACTG1):c.583G>A (p.Glu195Lys) GRCh37: Chr17:79478433 GRCh38: Chr17:81511407	ACTG1	E195K	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 1483014100.	NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) GRCh37: Chr17:79477831 GRCh38: Chr17:81510805	ACTG1	S338W	Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2	Likely pathogenic (Sep 17, 2021)	criteria provided, single submitter

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