ClinVar for MedGen (Select 98138) - ClinVar - NCBI

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Items: 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6663361.	NM_005584.5(MAB21L1):c.737dup (p.Cys246fs) GRCh37: Chr13:36049538-36049539 GRCh38: Chr13:35475401-35475402	MAB21L1, NBEA	C246fs	Hypoplasia of scrotum	Likely pathogenic (Jan 1, 2014)	criteria provided, single submitter
Select item 5232402.	GRCh37/hg19 1p36.22(chr1:12019879-12028775) GRCh37: Chr1:12019879-12028775	PLOD1		Hypoplasia of scrotum, Bilateral cryptorchidism, Short chin, Feeding difficulties, Joint hypermobility, Generalized neonatal hypotonia	Pathogenic (Jan 1, 2017)	criteria provided, single submitter
Select item 3741753.	NM_004278.4(PIGL):c.176C>A (p.Pro59His) GRCh37: Chr17:16120716 GRCh38: Chr17:16217402	PIGL	P59H	CHIME syndrome, Hypertelorism, Camptodactyly of finger, Premature birth, Wide intermamillary distance, Low-set ears, Bilateral cleft lip and palate, Postaxial hand polydactyly, Hypoplasia of scrotum	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 3740774.	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter) GRCh37: Chr1:12025628 GRCh38: Chr1:11965571	PLOD1	W521, W568	Narrow chest, Neonatal hypotonia, Umbilical hernia, Severe global developmental delay, Hydrocephalus, Dolichocephaly, Macrocephaly at birth, Porencephalic cyst, Generalized neonatal hypotonia, Bilateral cryptorchidism, Joint hypermobilityShort chin, Hypoplasia of scrotum, Feeding difficulties, Generalized hypotonia, Joint hypermobility, Depressed nasal bridge, High palate, Thoracolumbar scoliosis, Congenital omphalocele, ...see more	Pathogenic (Jan 1, 2017)	criteria provided, single submitter
Select item 305445.	NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) GRCh37: Chr17:16220000 GRCh38: Chr17:16316686	PIGL	L167P	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, Inborn genetic diseases, not provided, CHIME syndrome, Postaxial hand polydactyly, Hypoplasia of scrotum, Bilateral cleft lip and palate, Low-set ears, Premature birth, Wide intermamillary distance, Camptodactyly of fingerHypertelorism, ...see more	Conflicting interpretations of pathogenicity (Sep 29, 2022)	criteria provided, conflicting interpretations
Select item 96416.	NC_012920.1:m.8993T>G GRCh37: ChrMT:8993 GRCh38: ChrMT:8993	MT-ATP6		Mitochondrial disease	Pathogenic (Mar 22, 2021)	reviewed by expert panel FDA Recognized Database