LOC126862941[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +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	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 2279960	NM_020813.4(ZNF471):c.1624C>T (p.Pro542Ser)	LOC126862941, ZNF471 (P542S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196034	NM_020813.4(ZNF471):c.1631A>C (p.Glu544Ala)	LOC126862941, ZNF471 (E470A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258322	NM_020813.4(ZNF471):c.1676C>A (p.Thr559Asn)	LOC126862941, ZNF471 (T485N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196035	NM_020813.4(ZNF471):c.1682A>G (p.His561Arg)	LOC126862941, ZNF471 (H487R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384943	NM_020813.4(ZNF471):c.1774C>G (p.Leu592Val)	LOC126862941, ZNF471 (L592V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258323	NM_020813.4(ZNF471):c.1781C>T (p.Thr594Ile)	LOC126862941, ZNF471 (T594I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196036	NM_020813.4(ZNF471):c.1837T>C (p.Ser613Pro)	LOC126862941, ZNF471 (S613P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337245	NM_020813.4(ZNF471):c.1856G>T (p.Arg619Ile)	LOC126862941, ZNF471 (R545I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22