TFPT[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 2579242	GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1	NDUFA3, PRPF31 +2 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2579241	GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1	NDUFA3, PRPF31 +2 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2299653	NM_013342.4(TFPT):c.716A>G (p.Asp239Gly)	NDUFA3, TFPT (D230G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455041	NM_013342.4(TFPT):c.599G>A (p.Arg200His)	TFPT (R191H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238815	NM_013342.4(TFPT):c.590G>A (p.Arg197Gln)	TFPT (R197Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588815	NM_013342.4(TFPT):c.581G>A (p.Arg194Gln)	TFPT (R194Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310109	NM_013342.4(TFPT):c.523C>T (p.Pro175Ser)	TFPT (P166S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205889	NM_013342.4(TFPT):c.394C>T (p.Arg132Trp)	TFPT (R132W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479502	NM_013342.4(TFPT):c.367G>C (p.Val123Leu)	TFPT (V114L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378693	NM_013342.4(TFPT):c.362T>C (p.Met121Thr)	TFPT (M121T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579246	GRCh38/hg38 19q13.42(chr19:54109954-54115802)x1	PRPF31, TFPT	Copy number loss	Retinitis pigmentosa 11	GUncertain significance
Select item 2355295	NM_013342.4(TFPT):c.346G>C (p.Glu116Gln)	TFPT (E107Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529059	NM_013342.4(TFPT):c.306G>C (p.Arg102Ser)	TFPT (R102S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214346	NM_013342.4(TFPT):c.290A>T (p.Glu97Val)	TFPT (E88V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579240	GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1	PRPF31, PRPF31-AS1 +1 more	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 2475914	NM_013342.4(TFPT):c.250G>T (p.Ala84Ser)	TFPT (A75S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279534	NM_013342.4(TFPT):c.206G>T (p.Gly69Val)	TFPT (G60V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590972	NM_013342.4(TFPT):c.189G>C (p.Glu63Asp)	TFPT (E54D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527030	NM_013342.4(TFPT):c.25A>G (p.Thr9Ala)	TFPT (T9A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 369291	NM_013342.4(TFPT):c.-127G>A	PRPF31, TFPT	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Dominant	GLikely benign
Select item 330085	NM_013342.4(TFPT):c.-194G>A	PRPF31, TFPT	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Dominant	GLikely benign
Select item 330086	NM_013342.4(TFPT):c.-330C>T	PRPF31, TFPT	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 330087	NM_013342.4(TFPT):c.-350G>T	PRPF31, TFPT	Single nucleotide variant (5 prime UTR variant)	Retinitis Pigmentosa, Dominant +1 more	GConflicting classifications of pathogenicity
Select item 2691898	NM_015629.4(PRPF31):c.-9+1G>T	PRPF31, PRPF31-AS1 +1 more	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672793	GRCh37/hg19 19q13.42(chr19:54544215-54881884)x3	CNOT3, LAIR1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1460444	NC_000019.9:g.(?_54612401)_(54627945_?)del	PRPF31, TFPT	Deletion	not provided	GPathogenic
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	TSEN34, TTYH1 +51 more	Duplication	not provided	GUncertain significance
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816092	GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3	CACNG6, CACNG8 +29 more	Copy number gain	not provided	GUncertain significance
Select item 599085	GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1	PRPF31, TFPT	Copy number loss	Retinitis pigmentosa 11	GPathogenic
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253434	GRCh37/hg19 19q13.42(chr19:54280799-54635178)x1	CACNG6, CACNG7 +13 more	Copy number loss	See cases	GPathogenic

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Items: 48