ClinVar for MedGen (Select 346670) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572552	NM_001038603.3(MARVELD2):c.666C>G (p.Tyr222Ter)	MARVELD2 (Y222*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 49	GPathogenic
Select item 2433645	NM_001038603.3(MARVELD2):c.1554+286T>C	MARVELD2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 1419346	NM_001038603.3(MARVELD2):c.958C>G (p.Leu320Val)	MARVELD2 (L320V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1299311	NM_001038603.3(MARVELD2):c.608dup (p.Leu203fs)	MARVELD2 (L203fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 49	GPathogenic
Select item 1185092	NM_001038603.3(MARVELD2):c.1208_1211del (p.Arg403fs)	MARVELD2 (R391fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 49	GLikely pathogenic
Select item 1185091	NM_001038603.3(MARVELD2):c.1122dup (p.Arg375Ter)	MARVELD2 (R375*)	Duplication (nonsense)	Autosomal recessive nonsyndromic hearing loss 49	GLikely pathogenic
Select item 908016	NM_001038603.3(MARVELD2):c.273A>T (p.Arg91Ser)	MARVELD2 (R91S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907030	NM_001038603.3(MARVELD2):c.*97C>T	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 907029	NM_001038603.3(MARVELD2):c.*8T>G	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 907028	NM_001038603.3(MARVELD2):c.1555-13A>G	MARVELD2	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 906008	NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=)	MARVELD2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 49 +1 more	GConflicting classifications of pathogenicity
Select item 906007	NM_001038603.3(MARVELD2):c.1253A>T (p.Lys418Ile)	MARVELD2 (K406I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 905496	NM_001038603.3(MARVELD2):c.950G>A (p.Arg317Gln)	MARVELD2 (R317Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 905495	NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln)	MARVELD2 (E293Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 905494	NM_001038603.3(MARVELD2):c.834T>C (p.Tyr278=)	MARVELD2	Single nucleotide variant (synonymous variant)	MARVELD2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 904783	NM_001038603.3(MARVELD2):c.*376C>T	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 904782	NM_001038603.3(MARVELD2):c.*346C>G	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 904781	NM_001038603.3(MARVELD2):c.*266T>A	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 904780	NM_001038603.3(MARVELD2):c.*157T>C	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 904707	NM_001038603.3(MARVELD2):c.514T>C (p.Tyr172His)	MARVELD2 (Y172H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 871776	NM_001038603.3(MARVELD2):c.1331+2T>C	MARVELD2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 505800	NM_001038603.3(MARVELD2):c.1147-2A>G	MARVELD2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 504612	NM_001038603.3(MARVELD2):c.115C>T (p.Arg39Trp)	MARVELD2 (R39W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 500430	NM_001038603.3(MARVELD2):c.1562C>A (p.Thr521Lys)	MARVELD2 (T521K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 417899	NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile)	MARVELD2 (V554I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354099	NM_001038603.3(MARVELD2):c.*210A>G	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354098	NM_001038603.3(MARVELD2):c.*184C>T	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354097	NM_001038603.3(MARVELD2):c.*171G>A	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354096	NM_001038603.3(MARVELD2):c.*121C>T	MARVELD2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354095	NM_001038603.3(MARVELD2):c.1491G>A (p.Ser497=)	MARVELD2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354094	NM_001038603.3(MARVELD2):c.1443G>A (p.Arg481=)	MARVELD2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 49 +1 more	GConflicting classifications of pathogenicity
Select item 354093	NM_001038603.3(MARVELD2):c.1320C>A (p.Pro440=)	MARVELD2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 49 +1 more	GConflicting classifications of pathogenicity
Select item 354092	NM_001038603.3(MARVELD2):c.1248A>C (p.Thr416=)	MARVELD2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 49 +2 more	GConflicting classifications of pathogenicity
Select item 354091	NM_001038603.3(MARVELD2):c.1216G>A (p.Asp406Asn)	MARVELD2 (D406N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354090	NM_001038603.3(MARVELD2):c.1100G>T (p.Arg367Met)	MARVELD2 (R367M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354089	NM_001038603.3(MARVELD2):c.1049T>C (p.Val350Ala)	MARVELD2 (V350A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354088	NM_001038603.3(MARVELD2):c.1033A>G (p.Met345Val)	MARVELD2 (M345V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49 +3 more	GUncertain significance
Select item 354087	NM_001038603.3(MARVELD2):c.760C>G (p.Pro254Ala)	MARVELD2 (P254A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354086	NM_001038603.3(MARVELD2):c.743A>G (p.Tyr248Cys)	MARVELD2 (Y248C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354085	NM_001038603.3(MARVELD2):c.728A>G (p.Tyr243Cys)	MARVELD2 (Y243C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 354084	NM_001038603.3(MARVELD2):c.662G>C (p.Trp221Ser)	MARVELD2 (W221S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354082	NM_001038603.3(MARVELD2):c.491G>C (p.Arg164Pro)	MARVELD2 (R164P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354081	NM_001038603.3(MARVELD2):c.454G>A (p.Ala152Thr)	MARVELD2 (A152T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49 +1 more	GUncertain significance
Select item 354080	NM_001038603.3(MARVELD2):c.453C>T (p.Asp151=)	MARVELD2	Single nucleotide variant (synonymous variant)	MARVELD2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 354079	NM_001038603.3(MARVELD2):c.57C>T (p.Ser19=)	MARVELD2	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 354078	NM_001038603.3(MARVELD2):c.38G>A (p.Arg13His)	MARVELD2 (R13H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 49	GUncertain significance
Select item 290785	NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu)	MARVELD2 (I270L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287288	NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu)	MARVELD2 (P59L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 228359	NM_001038603.3(MARVELD2):c.1331+1G>A	MARVELD2	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 49 +1 more	GPathogenic
Select item 227543	NM_001038603.3(MARVELD2):c.306G>A (p.Pro102=)	MARVELD2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 195109	NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=)	MARVELD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178409	NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)	MARVELD2 (L300M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178407	NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg)	MARVELD2 (Q167R)	Single nucleotide variant (missense variant)	MARVELD2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 178406	NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr)	MARVELD2 (A122T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163974	NM_001038603.3(MARVELD2):c.1461T>G (p.Asp487Glu)	MARVELD2 (D487E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 43847	NM_001038603.3(MARVELD2):c.98C>T (p.Thr33Ile)	MARVELD2 (T33I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 43844	NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)	MARVELD2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 43843	NM_001038603.3(MARVELD2):c.1147-9T>G	MARVELD2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1198	NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)	MARVELD2 (R500* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 49 +3 more	GPathogenic/Likely pathogenic
Select item 1196	NM_001038603.3(MARVELD2):c.1331+4_1331+7del	MARVELD2	Deletion (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 49	GPathogenic
Select item 1195	NM_001038603.3(MARVELD2):c.1183-1G>A	MARVELD2	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 49	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 61