ClinVar for MedGen (Select 437064) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18052371.	NM_005491.5(MAMLD1):c.*159T>C GRCh37: ChrX:149680388 GRCh38: ChrX:150512118	MAMLD1	M681T, M706T	Hypospadias 2, X-linked	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 16859362.	NM_005491.5(MAMLD1):c.1804C>A (p.Gln602Lys) GRCh37: ChrX:149639649 GRCh38: ChrX:150471377	MAMLD1	Q577K, Q602K	Hypospadias 2, X-linked, not provided	Conflicting interpretations of pathogenicity (Sep 18, 2022)	criteria provided, conflicting interpretations
Select item 16009113.	NM_005491.5(MAMLD1):c.1291C>T (p.Leu431Phe) GRCh37: ChrX:149639136 GRCh38: ChrX:150470864	MAMLD1	L406F, L431F	Hypospadias 2, X-linked, not provided	Benign/Likely benign (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11691674.	NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser) GRCh37: ChrX:149639544 GRCh38: ChrX:150471272	MAMLD1	P542S, P567S	not provided, not specified, Hypospadias 2, X-linked	Benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9828155.	NM_005491.5(MAMLD1):c.*126C>T GRCh37: ChrX:149680355 GRCh38: ChrX:150512085	MAMLD1	T670I, T695I	not provided, Hypospadias 2, X-linked	Benign/Likely benign (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 8040966.	NM_005491.5(MAMLD1):c.1514T>C (p.Val505Ala) GRCh37: ChrX:149639359 GRCh38: ChrX:150471087	MAMLD1	V480A, V505A	not provided, Hypospadias 2, X-linked	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 7247497.	NM_005491.5(MAMLD1):c.2284+8A>T GRCh37: ChrX:149671795 GRCh38: ChrX:150503525	MAMLD1		not provided, Hypospadias 2, X-linked	Benign/Likely benign (May 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4314478.	NM_005491.5(MAMLD1):c.394G>T (p.Glu132Ter) GRCh37: ChrX:149638239 GRCh38: ChrX:150469967	MAMLD1	E132, E107	Hypospadias 2, X-linked	Pathogenic (Jul 31, 2017)	criteria provided, single submitter
Select item 116139.	NM_005491.5(MAMLD1):c.2176C>T (p.Arg726Ter) GRCh37: ChrX:149671679 GRCh38: ChrX:150503409	MAMLD1	R726, R701, R660, R685	46,XY ovotesticular disorder of sex development	Pathogenic	criteria provided, single submitter
Select item 1161210.	NM_005491.5(MAMLD1):c.808C>T (p.Gln270Ter) GRCh37: ChrX:149638653 GRCh38: ChrX:150470381	MAMLD1	Q270, Q245	Hypospadias 2, X-linked	Pathogenic (Dec 1, 2006)	no assertion criteria provided
Select item 1161111.	NM_005491.5(MAMLD1):c.589G>T (p.Glu197Ter) GRCh37: ChrX:149638434 GRCh38: ChrX:150470162	MAMLD1	E197, E172	Hypospadias 2, X-linked	Pathogenic (Dec 1, 2006)	no assertion criteria provided