"GeneDx"[submitter] AND "PTRH2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 451081	NM_016077.5(PTRH2):c.253C>T (p.Gln85Ter)	PTRH2 (Q85* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2500557	NM_016077.5(PTRH2):c.242A>G (p.Lys81Arg)	PTRH2 (K81R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 506835	NM_016077.5(PTRH2):c.240G>C (p.Gly80=)	PTRH2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 382976	NM_016077.5(PTRH2):c.168A>G (p.Ala56=)	PTRH2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1048079	NM_016077.5(PTRH2):c.127dup (p.Ser43fs)	PTRH2 (S43fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 524094	NM_016077.5(PTRH2):c.111dup (p.Gly38fs)	PTRH2 (G39fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 516408	NM_016077.5(PTRH2):c.61G>A (p.Val21Ile)	PTRH2 (V21I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 388253	NM_016077.5(PTRH2):c.51C>T (p.Leu17=)	PTRH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1691191	NM_016077.5(PTRH2):c.1-124A>G	PTRH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514790	NM_016077.5(PTRH2):c.-16A>G	PTRH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388648	NM_016077.5(PTRH2):c.-17G>A	PTRH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515629	NM_016077.5(PTRH2):c.-18G>A	PTRH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515341	NM_016077.5(PTRH2):c.-25C>T	PTRH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 512234	NM_016077.5(PTRH2):c.-33G>A	PTRH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383506	NM_016077.5(PTRH2):c.-37G>A	PTRH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 510981	NM_016077.5(PTRH2):c.-41A>G	PTRH2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1327162	NC_000017.11:g.59707607G>T	PTRH2	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic