PTRH2[gene] and "single gene"[properties] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570662	NM_016077.5(PTRH2):c.535dup (p.Tyr179fs)	PTRH2 (Y179fs +1 more)	Duplication (frameshift variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	GUncertain significance
Select item 2254456	NM_016077.5(PTRH2):c.535T>C (p.Tyr179His)	PTRH2 (Y180H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412752	NM_016077.5(PTRH2):c.515_516del (p.Val172fs)	PTRH2 (V173fs +1 more)	Deletion (frameshift variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	GUncertain significance
Select item 2606373	NM_016077.5(PTRH2):c.449A>T (p.Gln150Leu)	PTRH2 (Q150L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337376	NM_016077.5(PTRH2):c.443G>T (p.Arg148Leu)	PTRH2 (R148L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149724	NM_016077.5(PTRH2):c.442C>T (p.Arg148Cys)	PTRH2 (R148C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149723	NM_016077.5(PTRH2):c.356A>G (p.Lys119Arg)	PTRH2 (K119R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 695110	NM_016077.5(PTRH2):c.324G>A (p.Trp108Ter)	PTRH2 (W108* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 183332	NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)	PTRH2 (Q85P +1 more)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 +1 more	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 3043794	NM_016077.5(PTRH2):c.186C>T (p.Ser62=)	PTRH2	Single nucleotide variant (synonymous variant)	PTRH2-related disorder	GLikely benign
Select item 2683439	NM_016077.5(PTRH2):c.173T>C (p.Ile58Thr)	PTRH2 (I58T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3149722	NM_016077.5(PTRH2):c.149C>T (p.Thr50Ile)	PTRH2 (T51I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 684534	NM_016077.5(PTRH2):c.101G>A (p.Arg34Gln)	PTRH2 (R34Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378378	NM_016077.5(PTRH2):c.89G>A (p.Gly30Asp)	PTRH2 (G31D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 996539	NM_016077.5(PTRH2):c.68T>C (p.Val23Ala)	PTRH2 (V23A +1 more)	Single nucleotide variant (missense variant)	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	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 3311701	NM_016077.5(PTRH2):c.52G>A (p.Gly18Ser)	PTRH2 (G18S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2367016	NM_016077.5(PTRH2):c.49C>T (p.Leu17Phe)	PTRH2 (L18F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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

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Items: 34