TPBG[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	LOC129996748, LOC129996749 +299 more	Copy number loss	See cases	GPathogenic
Select item 2488790	NM_001376922.1(TPBG):c.97T>C (p.Ser33Pro)	TPBG (S33P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352984	NM_001376922.1(TPBG):c.107C>T (p.Ser36Phe)	TPBG (S36F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355902	NM_001376922.1(TPBG):c.112G>A (p.Ala38Thr)	TPBG (A38T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611791	NM_001376922.1(TPBG):c.121T>G (p.Phe41Val)	TPBG (F41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542818	NM_001376922.1(TPBG):c.128C>A (p.Ser43Tyr)	TPBG (S43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403127	NM_001376922.1(TPBG):c.151G>A (p.Ala51Thr)	TPBG (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559734	NM_001376922.1(TPBG):c.170C>G (p.Pro57Arg)	TPBG (P57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219092	NM_001376922.1(TPBG):c.283A>G (p.Asn95Asp)	TPBG (N95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342448	NM_001376922.1(TPBG):c.351_374del (p.Ala118_Leu125del)	TPBG	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2216562	NM_001376922.1(TPBG):c.497A>G (p.Asn166Ser)	TPBG (N166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405443	NM_001376922.1(TPBG):c.638G>T (p.Arg213Leu)	TPBG (R213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181469	NM_001376922.1(TPBG):c.764G>T (p.Arg255Leu)	TPBG (R255L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181470	NM_001376922.1(TPBG):c.811A>C (p.Lys271Gln)	TPBG (K271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290198	NM_001376922.1(TPBG):c.884C>T (p.Pro295Leu)	TPBG (P295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305664	NM_001376922.1(TPBG):c.953A>G (p.Lys318Arg)	TPBG (K318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181471	NM_001376922.1(TPBG):c.986T>A (p.Met329Lys)	TPBG (M329K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181465	NM_001376922.1(TPBG):c.1132C>G (p.Arg378Gly)	TPBG (R378G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181466	NM_001376922.1(TPBG):c.1136A>G (p.Lys379Arg)	TPBG (K379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3181467	NM_001376922.1(TPBG):c.1205G>T (p.Arg402Ile)	TPBG (R402I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384271	NM_001376922.1(TPBG):c.1228A>G (p.Arg410Gly)	TPBG (R410G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295094	NM_001376922.1(TPBG):c.1233A>C (p.Leu411Phe)	TPBG (L411F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1808487	GRCh37/hg19 6q14.1-14.2(chr6:81087736-84200632)x3	DOP1A, IBTK +6 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	KHDC1L, KHDC3L +88 more	Copy number gain	not specified	GPathogenic
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	KHDC3L, LCA5 +31 more	Copy number loss	not provided	GPathogenic
Select item 814839	GRCh37/hg19 6q14.1-14.2(chr6:82620262-84201117)x1	UBE3D, DOP1A +5 more	Copy number loss	not provided	GUncertain significance
Select item 685209	GRCh37/hg19 6q14.1-14.2(chr6:82987696-84007694)x1	DOP1A, ME1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	DDX43, TMEM30A +40 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 224831	Single allele	SNAP91, PGM3 +6 more	Deletion	Immunodeficiency 23	GPathogenic

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Items: 36