ClinVar for Gene (Select 284355) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181650	NM_001397346.1(TPRX1):c.960T>G (p.Ile320Met)	TPRX1 (I320M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181649	NM_001397346.1(TPRX1):c.926C>T (p.Pro309Leu)	TPRX1 (P309L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181647	NM_001397346.1(TPRX1):c.807A>G (p.Pro269=)	TPRX1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3181646	NM_001397346.1(TPRX1):c.766G>T (p.Val256Phe)	TPRX1 (V256F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181645	NM_001397346.1(TPRX1):c.746C>T (p.Pro249Leu)	TPRX1 (P249L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181643	NM_001397346.1(TPRX1):c.710C>T (p.Pro237Leu)	TPRX1 (P237L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181642	NM_001397346.1(TPRX1):c.650C>A (p.Pro217Gln)	TPRX1 (P259Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181641	NM_001397346.1(TPRX1):c.568A>G (p.Ile190Val)	TPRX1 (I232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181640	NM_001397346.1(TPRX1):c.359C>A (p.Ala120Glu)	TPRX1 (A162E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181639	NM_001397346.1(TPRX1):c.355C>A (p.Pro119Thr)	TPRX1 (P119T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181638	NM_001397346.1(TPRX1):c.1385T>C (p.Leu462Ser)	TPRX1 (L504S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181637	NM_001397346.1(TPRX1):c.1383G>T (p.Arg461Ser)	TPRX1 (R461S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181636	NM_001397346.1(TPRX1):c.1376G>T (p.Gly459Val)	TPRX1 (G501V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181635	NM_001397346.1(TPRX1):c.1262C>A (p.Ser421Tyr)	TPRX1 (S421Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181634	NM_001397346.1(TPRX1):c.1217C>T (p.Pro406Leu)	TPRX1 (P406L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067181	NM_001397346.1(TPRX1):c.636T>C (p.Ile212=)	TPRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650195	NM_001397346.1(TPRX1):c.735A>G (p.Pro245=)	TPRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650194	NM_001397346.1(TPRX1):c.819A>G (p.Pro273=)	TPRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650193	NM_001397346.1(TPRX1):c.843A>G (p.Pro281=)	TPRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650192	NM_001397346.1(TPRX1):c.867G>A (p.Pro289=)	TPRX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2590729	NM_001397346.1(TPRX1):c.1039C>T (p.Arg347Trp)	TPRX1 (R347W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2579248	GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1	CRX, LINC01595 +3 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2569772	NM_001397346.1(TPRX1):c.767T>G (p.Val256Gly)	TPRX1 (V256G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556568	NM_001397346.1(TPRX1):c.1194C>G (p.Phe398Leu)	TPRX1 (F440L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539145	NM_001397346.1(TPRX1):c.755G>T (p.Gly252Val)	TPRX1 (G294V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539144	NM_001397346.1(TPRX1):c.751C>T (p.Pro251Ser)	TPRX1 (P251S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532580	NM_001397346.1(TPRX1):c.830C>G (p.Pro277Arg)	TPRX1 (P277R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476929	NM_001397346.1(TPRX1):c.1180G>A (p.Asp394Asn)	TPRX1 (D394N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468044	NM_001397346.1(TPRX1):c.968C>T (p.Pro323Leu)	TPRX1 (P365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467226	NM_001397346.1(TPRX1):c.958A>G (p.Ile320Val)	TPRX1 (I320V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404805	NM_001397346.1(TPRX1):c.1298G>A (p.Gly433Glu)	TPRX1 (G433E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375128	NM_001397346.1(TPRX1):c.770C>G (p.Pro257Arg)	TPRX1 (P299R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371836	NM_001397346.1(TPRX1):c.821A>T (p.Asn274Ile)	TPRX1 (N316I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366767	NM_001397346.1(TPRX1):c.713A>T (p.Asn238Ile)	TPRX1 (N238I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361244	NM_001397346.1(TPRX1):c.314C>G (p.Ala105Gly)	TPRX1 (A105G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360249	NM_001397346.1(TPRX1):c.830C>T (p.Pro277Leu)	TPRX1 (P319L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353559	NM_001397346.1(TPRX1):c.202T>A (p.Phe68Ile)	TPRX1 (F110I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343534	NM_001397346.1(TPRX1):c.845T>A (p.Ile282Asn)	TPRX1 (I324N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331968	NM_001397346.1(TPRX1):c.1189G>A (p.Asp397Asn)	TPRX1 (D439N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328825	NM_001397346.1(TPRX1):c.488A>G (p.Gln163Arg)	TPRX1 (Q163R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273695	NM_001397346.1(TPRX1):c.1148C>T (p.Pro383Leu)	TPRX1 (P383L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266657	NM_001397346.1(TPRX1):c.538G>C (p.Ala180Pro)	TPRX1 (A180P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264467	NM_001397346.1(TPRX1):c.451C>T (p.Pro151Ser)	TPRX1 (P193S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246675	NM_001397346.1(TPRX1):c.757C>T (p.Pro253Ser)	TPRX1 (P253S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243700	NM_001397346.1(TPRX1):c.859T>C (p.Ser287Pro)	TPRX1 (S287P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242772	NM_001397346.1(TPRX1):c.458C>T (p.Pro153Leu)	TPRX1 (P153L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236014	NM_001397346.1(TPRX1):c.1040G>A (p.Arg347Gln)	TPRX1 (R347Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 830780	NC_000019.10:g.(?_47801775)_(47886257_?)del	CRX, SULT2A1 +1 more	Deletion	Leber congenital amaurosis 7 +1 more	GUncertain significance
Select item 816088	GRCh37/hg19 19q13.33(chr19:48043102-48402210)x3	NOP53, EHD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 564586	GRCh37/hg19 19q13.33(chr19:48206212-48431087)x3	SULT2A1, NOP53 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564581	GRCh37/hg19 19q13.33(chr19:48303876-48402211)x1	CRX, SULT2A1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 560119	Single allele	CRX, TPRX1	Deletion	not provided	GUncertain significance
Select item 493601	GRCh37/hg19 19q13.33(chr19:48242225-48399399)x3	EHD2, NOP53 +4 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 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	SELENOW, SLC1A5 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 394233	GRCh37/hg19 19q13.33(chr19:48282603-48305390)x3	SELENOW, TPRX1	Copy number gain	See cases	GUncertain significance
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 65