ClinVar for Gene (Select 285386) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328330	NM_198485.4(TPRG1):c.186C>G (p.Ile62Met)	TPRG1 (I62M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328329	NM_198485.4(TPRG1):c.253G>A (p.Val85Ile)	TPRG1 (V85I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3181606	NM_198485.4(TPRG1):c.61G>A (p.Asp21Asn)	TPRG1 (D21N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181604	NM_198485.4(TPRG1):c.278T>C (p.Ile93Thr)	TPRG1 (I93T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181603	NM_198485.4(TPRG1):c.143C>T (p.Thr48Ile)	TPRG1 (T48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 2685947	GRCh37/hg19 3q28(chr3:188478732-188963768)x3	LPP, TPRG1	Copy number gain	not provided	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2607864	NM_198485.4(TPRG1):c.484C>A (p.Gln162Lys)	TPRG1 (Q162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604893	NM_198485.4(TPRG1):c.494G>A (p.Gly165Asp)	TPRG1 (G165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594422	NM_198485.4(TPRG1):c.434G>C (p.Arg145Pro)	LOC126806903, TPRG1 +1 more (R145P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2557811	NM_198485.4(TPRG1):c.667A>C (p.Ile223Leu)	TPRG1 (I223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549325	NM_198485.4(TPRG1):c.283G>A (p.Gly95Ser)	TPRG1 (G95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523398	NM_198485.4(TPRG1):c.484C>G (p.Gln162Glu)	TPRG1 (Q162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512271	NM_198485.4(TPRG1):c.190C>T (p.Arg64Trp)	TPRG1 (R64W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482398	NM_198485.4(TPRG1):c.292C>T (p.Leu98Phe)	TPRG1 (L98F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424748	NC_000003.11:g.(?_188118572)_(192126012_?)dup	CCDC50, CLDN1 +13 more	Duplication	not provided	GUncertain significance
Select item 2424746	NC_000003.11:g.(?_188118572)_(192126012_?)del	CCDC50, CLDN1 +13 more	Deletion	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2396485	NM_198485.4(TPRG1):c.781C>T (p.Arg261Cys)	TPRG1 (R261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395699	NM_198485.4(TPRG1):c.424G>A (p.Ala142Thr)	LOC126806903, TPRG1 +1 more (A142T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2391760	NM_198485.4(TPRG1):c.809G>A (p.Arg270His)	TPRG1 (R270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382359	NM_198485.4(TPRG1):c.182A>C (p.Tyr61Ser)	TPRG1 (Y61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368138	NM_198485.4(TPRG1):c.191G>A (p.Arg64Gln)	TPRG1 (R64Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345863	NM_198485.4(TPRG1):c.595A>G (p.Met199Val)	TPRG1 (M199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308228	NM_198485.4(TPRG1):c.525G>T (p.Glu175Asp)	TPRG1 (E175D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296617	NM_198485.4(TPRG1):c.805G>T (p.Ala269Ser)	TPRG1 (A269S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295334	NM_198485.4(TPRG1):c.89C>T (p.Ser30Leu)	TPRG1 (S30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288702	NM_198485.4(TPRG1):c.259G>C (p.Glu87Gln)	TPRG1 (E87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250431	NM_198485.4(TPRG1):c.365T>C (p.Ile122Thr)	LOC126806903, TPRG1 +1 more (I122T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562848	GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1	KNG1, FETUB +75 more	Copy number loss	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253655	GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1	GMNC, UTS2B +28 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 155446	GRCh38/hg38 3q28(chr3:189218502-190089843)x3	LOC111162620, LOC111162621 +18 more	Copy number gain	See cases	GLikely benign
Select item 155397	GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1	LOC132088908, LOC132088909 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57872	GRCh38/hg38 3q28(chr3:188362559-189767088)x1	LOC111162620, LOC123464480 +22 more	Copy number loss	See cases	GPathogenic
Select item 57871	GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1	BCL6, BCL6-AS1 +70 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64