PTRH2[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 146320	GRCh38/hg38 17q22-23.1(chr17:59481220-59756756)x1	CLTC, DHX40 +10 more	Copy number loss	See cases	GUncertain significance
Select item 977742	NC_000017.11:g.59679324_59702065del	CLTC, LOC125177523 +3 more	Deletion	Intellectual disability, autosomal dominant 56	GLikely pathogenic
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 183428	NM_016077.5(PTRH2):c.269_270del (p.Ala90fs)	CLTC, PTRH2 (A90fs +1 more)	Deletion (frameshift variant)	not provided +1 more	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 condition	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 +1 more	GBenign/Likely benign
Select item 388253	NM_016077.5(PTRH2):c.51C>T (p.Leu17=)	PTRH2	Single nucleotide variant (synonymous variant)	PTRH2-related condition +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
Select item 1526581	GRCh37/hg19 17q23.1(chr17:57665341-57873701)	CLTC, DHX40 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Familial aplasia of the vermis +1 more	GUncertain significance
Select item 1340823	GRCh37/hg19 17q23.1-23.2(chr17:57605300-59389547)x1	APPBP2, BCAS3 +13 more	Copy number loss	not provided	GPathogenic
Select item 815942	GRCh37/hg19 17q23.1(chr17:57616400-57986918)x1	TUBD1, VMP1 +5 more	Copy number loss	not provided	GLikely pathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 50