ClinVar for MedGen (Select 346670) - ClinVar

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Items: 61

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25725521.	NM_001038603.3(MARVELD2):c.666C>G (p.Tyr222Ter) GRCh37: Chr5:68715878 GRCh38: Chr5:69420051	MARVELD2	Y222*	Autosomal recessive nonsyndromic hearing loss 49	Pathogenic	criteria provided, single submitter
Select item 24336452.	NM_001038603.3(MARVELD2):c.1554+286T>C GRCh37: Chr5:68736613 GRCh38: Chr5:69440786	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Apr 4, 2020)	criteria provided, single submitter
Select item 14193463.	NM_001038603.3(MARVELD2):c.958C>G (p.Leu320Val) GRCh37: Chr5:68716170 GRCh38: Chr5:69420343	MARVELD2	L320V	not provided, Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12993114.	NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs) GRCh37: Chr5:68715816-68715817 GRCh38: Chr5:69419989-69419990	MARVELD2	L203fs	Autosomal recessive nonsyndromic hearing loss 49	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 11850925.	NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs) GRCh37: Chr5:68728375-68728378 GRCh38: Chr5:69432548-69432551	MARVELD2	R391fs, R403fs	Autosomal recessive nonsyndromic hearing loss 49	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 11850916.	NM_001038603.3(MARVELD2):c.1122dup (p.Arg375Ter) GRCh37: Chr5:68716333-68716334 GRCh38: Chr5:69420506-69420507	MARVELD2	R375*	Autosomal recessive nonsyndromic hearing loss 49	Likely pathogenic (Jul 1, 2021)	no assertion criteria provided
Select item 9080167.	NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser) GRCh37: Chr5:68715485 GRCh38: Chr5:69419658	MARVELD2	R91S	Autosomal recessive nonsyndromic hearing loss 49, not provided	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 9070308.	NM_001038603.3(MARVELD2):c.*97C>T GRCh37: Chr5:68737578 GRCh38: Chr5:69441751	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9070299.	NM_001038603.3(MARVELD2):c.*8T>G GRCh37: Chr5:68737489 GRCh38: Chr5:69441662	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90702810.	NM_001038603.3(MARVELD2):c.1555-13A>G GRCh37: Chr5:68737346 GRCh38: Chr5:69441519	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90600811.	NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=) GRCh37: Chr5:68728479 GRCh38: Chr5:69432652	MARVELD2		not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Jun 3, 2020)	criteria provided, conflicting interpretations
Select item 90600712.	NM_001038603.3(MARVELD2):c.1253A>T (p.Lys418Ile) GRCh37: Chr5:68728424 GRCh38: Chr5:69432597	MARVELD2	K406I, K418I	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90549613.	NM_001038603.3(MARVELD2):c.950G>A (p.Arg317Gln) GRCh37: Chr5:68716162 GRCh38: Chr5:69420335	MARVELD2	R317Q	not provided, Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Dec 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90549514.	NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln) GRCh37: Chr5:68716089 GRCh38: Chr5:69420262	MARVELD2	E293Q	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90549415.	NM_001038603.3(MARVELD2):c.834T>C (p.Tyr278=) GRCh37: Chr5:68716046 GRCh38: Chr5:69420219	MARVELD2		not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Jun 22, 2021)	criteria provided, conflicting interpretations
Select item 90478316.	NM_001038603.3(MARVELD2):c.*376C>T GRCh37: Chr5:68737857 GRCh38: Chr5:69442030	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90478217.	NM_001038603.3(MARVELD2):c.*346C>G GRCh37: Chr5:68737827 GRCh38: Chr5:69442000	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90478118.	NM_001038603.3(MARVELD2):c.*266T>A GRCh37: Chr5:68737747 GRCh38: Chr5:69441920	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90478019.	NM_001038603.3(MARVELD2):c.*157T>C GRCh37: Chr5:68737638 GRCh38: Chr5:69441811	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90470720.	NM_001038603.3(MARVELD2):c.514T>C (p.Tyr172His) GRCh37: Chr5:68715726 GRCh38: Chr5:69419899	MARVELD2	Y172H	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87177621.	NM_001038603.3(MARVELD2):c.1331+2T>C GRCh37: Chr5:68728504 GRCh38: Chr5:69432677	MARVELD2		Hearing impairment, not provided, Autosomal recessive nonsyndromic hearing loss 49	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 50580022.	NM_001038603.3(MARVELD2):c.1147-2A>G GRCh37: Chr5:68720426 GRCh38: Chr5:69424599	MARVELD2		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Jul 4, 2021)	criteria provided, conflicting interpretations
Select item 50461223.	NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp) GRCh37: Chr5:68715327 GRCh38: Chr5:69419500	MARVELD2	R39W	not specified, Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 50043024.	NM_001038603.3(MARVELD2):c.1562C>A (p.Thr521Lys) GRCh37: Chr5:68737366 GRCh38: Chr5:69441539	MARVELD2	T521K, T509K	Inborn genetic diseases, not provided, Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Apr 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 41789925.	NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile) GRCh37: Chr5:68737464 GRCh38: Chr5:69441637	MARVELD2	V554I, V542I	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Feb 11, 2016)	no assertion criteria provided
Select item 35409926.	NM_001038603.3(MARVELD2):c.*210A>G GRCh37: Chr5:68737691 GRCh38: Chr5:69441864	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35409827.	NM_001038603.3(MARVELD2):c.*184C>T GRCh37: Chr5:68737665 GRCh38: Chr5:69441838	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35409728.	NM_001038603.3(MARVELD2):c.*171G>A GRCh37: Chr5:68737652 GRCh38: Chr5:69441825	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35409629.	NM_001038603.3(MARVELD2):c.*121C>T GRCh37: Chr5:68737602 GRCh38: Chr5:69441775	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35409530.	NM_001038603.3(MARVELD2):c.1491G>A (p.Ser497=) GRCh37: Chr5:68728908 GRCh38: Chr5:69433081	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35409431.	NM_001038603.3(MARVELD2):c.1443G>A (p.Arg481=) GRCh37: Chr5:68728860 GRCh38: Chr5:69433033	MARVELD2		not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Jun 3, 2022)	criteria provided, conflicting interpretations
Select item 35409332.	NM_001038603.3(MARVELD2):c.1320C>A (p.Pro440=) GRCh37: Chr5:68728491 GRCh38: Chr5:69432664	MARVELD2		not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 35409233.	NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=) GRCh37: Chr5:68728419 GRCh38: Chr5:69432592	MARVELD2		not provided, not specified, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 35409134.	NM_001038603.3(MARVELD2):c.1216G>A (p.Asp406Asn) GRCh37: Chr5:68728387 GRCh38: Chr5:69432560	MARVELD2	D406N, D394N	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35409035.	NM_001038603.3(MARVELD2):c.1100G>T (p.Arg367Met) GRCh37: Chr5:68716312 GRCh38: Chr5:69420485	MARVELD2	R367M	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35408936.	NM_001038603.3(MARVELD2):c.1049T>C (p.Val350Ala) GRCh37: Chr5:68716261 GRCh38: Chr5:69420434	MARVELD2	V350A	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35408837.	NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val) GRCh37: Chr5:68716245 GRCh38: Chr5:69420418	MARVELD2	M345V	Inborn genetic diseases, not provided, not specified, Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35408738.	NM_001038603.3(MARVELD2):c.760C>G (p.Pro254Ala) GRCh37: Chr5:68715972 GRCh38: Chr5:69420145	MARVELD2	P254A	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35408639.	NM_001038603.3(MARVELD2):c.743A>G (p.Tyr248Cys) GRCh37: Chr5:68715955 GRCh38: Chr5:69420128	MARVELD2	Y248C	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35408540.	NM_001038603.3(MARVELD2):c.728A>G (p.Tyr243Cys) GRCh37: Chr5:68715940 GRCh38: Chr5:69420113	MARVELD2	Y243C	not provided, Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35408441.	NM_001038603.3(MARVELD2):c.662G>C (p.Trp221Ser) GRCh37: Chr5:68715874 GRCh38: Chr5:69420047	MARVELD2	W221S	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35408242.	NM_001038603.3(MARVELD2):c.491G>C (p.Arg164Pro) GRCh37: Chr5:68715703 GRCh38: Chr5:69419876	MARVELD2	R164P	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35408143.	NM_001038603.3(MARVELD2):c.454G>A (p.Ala152Thr) GRCh37: Chr5:68715666 GRCh38: Chr5:69419839	MARVELD2	A152T	not provided, Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35408044.	NM_001038603.3(MARVELD2):c.453C>T (p.Asp151=) GRCh37: Chr5:68715665 GRCh38: Chr5:69419838	MARVELD2		not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 35407945.	NM_001038603.3(MARVELD2):c.57C>T (p.Ser19=) GRCh37: Chr5:68715269 GRCh38: Chr5:69419442	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35407846.	NM_001038603.3(MARVELD2):c.38G>A (p.Arg13His) GRCh37: Chr5:68715250 GRCh38: Chr5:69419423	MARVELD2	R13H	Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29078547.	NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu) GRCh37: Chr5:68716020 GRCh38: Chr5:69420193	MARVELD2	I270L	not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 28728848.	NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) GRCh37: Chr5:68715388 GRCh38: Chr5:69419561	MARVELD2	P59L	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Jul 20, 2022)	criteria provided, conflicting interpretations
Select item 22835949.	NM_001038603.3(MARVELD2):c.1331+1G>A GRCh37: Chr5:68728503 GRCh38: Chr5:69432676	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49, Rare genetic deafness	Pathogenic (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22754350.	NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=) GRCh37: Chr5:68715518 GRCh38: Chr5:69419691	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49, not provided, not specified	Conflicting interpretations of pathogenicity (Jul 11, 2022)	criteria provided, conflicting interpretations
Select item 19510951.	NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) GRCh37: Chr5:68715242 GRCh38: Chr5:69419415	MARVELD2		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 17840952.	NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) GRCh37: Chr5:68716110 GRCh38: Chr5:69420283	MARVELD2	L300M	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 17840753.	NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) GRCh37: Chr5:68715712 GRCh38: Chr5:69419885	MARVELD2	Q167R	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 17840654.	NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) GRCh37: Chr5:68715576 GRCh38: Chr5:69419749	MARVELD2	A122T	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 16397455.	NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu) GRCh37: Chr5:68728878 GRCh38: Chr5:69433051	MARVELD2	D487E, D475E	not specified, Autosomal recessive nonsyndromic hearing loss 49	Uncertain significance (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4384756.	NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile) GRCh37: Chr5:68715310 GRCh38: Chr5:69419483	MARVELD2	T33I	not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4384457.	NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) GRCh37: Chr5:68728824 GRCh38: Chr5:69432997	MARVELD2		not provided, not specified, Autosomal recessive nonsyndromic hearing loss 49	Conflicting interpretations of pathogenicity (Sep 27, 2022)	criteria provided, conflicting interpretations
Select item 4384358.	NM_001038603.3(MARVELD2):c.1147-9T>G GRCh37: Chr5:68720419 GRCh38: Chr5:69424592	MARVELD2		not specified, not provided, Autosomal recessive nonsyndromic hearing loss 49	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119859.	NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) GRCh37: Chr5:68728915 GRCh38: Chr5:69433088	MARVELD2	R500, R488	Rare genetic deafness, not provided, Autosomal recessive nonsyndromic hearing loss 49, Abnormality of the ear	Pathogenic/Likely pathogenic (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 119660.	NM_001038603.3(MARVELD2):c.1331+4_1331+7del GRCh37: Chr5:68728503-68728506 GRCh38: Chr5:69432676-69432679	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Pathogenic (Dec 1, 2006)	no assertion criteria provided
Select item 119561.	NM_001038603.3(MARVELD2):c.1183-1G>A GRCh37: Chr5:68728353 GRCh38: Chr5:69432526	MARVELD2		Autosomal recessive nonsyndromic hearing loss 49	Likely pathogenic	criteria provided, single submitter

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Items: 61