ClinVar for Gene (Select 4696) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325647	NM_013342.4(TFPT):c.668T>C (p.Phe223Ser)	NDUFA3, TFPT (F223S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299021	NM_004542.4(NDUFA3):c.172C>T (p.Arg58Cys)	NDUFA3 (R58C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2365399	NM_004542.4(NDUFA3):c.110C>T (p.Pro37Leu)	NDUFA3 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321367	NM_004542.4(NDUFA3):c.73G>A (p.Val25Ile)	NDUFA3 (V25I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2299653	NM_013342.4(TFPT):c.716A>G (p.Asp239Gly)	NDUFA3, TFPT (D230G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296786	NM_004542.4(NDUFA3):c.89T>A (p.Val30Glu)	NDUFA3 (V30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207879	NM_004542.4(NDUFA3):c.25C>A (p.Leu9Ile)	NDUFA3 (L9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +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	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +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 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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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
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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 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 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31