Related gene-specific medical variations for Gene (Select 5741) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029904	NM_001316352.2(PTH):c.-5G>A	LOC107988023, PTH	Single nucleotide variant (5 prime UTR variant)	PTH-related disorder	GLikely benign
Select item 2435280	NM_000315.4(PTH):c.86+4_86+7del	PTH	Microsatellite (splice donor variant)	Hypoparathyroidism, familial isolated 1	GUncertain significance
Select item 303706	NM_000315.4(PTH):c.-83T>C	LOC107988023, PTH	Single nucleotide variant (5 prime UTR variant +1 more)	Familial hypoparathyroidism	GUncertain significance
Select item 303705	NM_000315.4(PTH):c.-33C>T	LOC107988023, PTH	Single nucleotide variant (5 prime UTR variant +1 more)	Familial hypoparathyroidism	GUncertain significance
Select item 64395	NM_000315.4(PTH):c.300G>T (p.Glu100Asp)	PTH (E100D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64394	NM_000315.4(PTH):c.122A>G (p.Asn41Ser)	PTH (N41S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar