NAPA[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 149907	GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3	BICRA, BICRA-AS2 +45 more	Copy number gain	See cases	GLikely benign
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 3175122	NM_003827.4(NAPA):c.812G>A (p.Arg271Gln)	NAPA, NAPA-AS1 (R271Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175121	NM_003827.4(NAPA):c.715C>T (p.Arg239Trp)	NAPA-AS1, NAPA (R239W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223276	NM_003827.4(NAPA):c.703T>C (p.Phe235Leu)	NAPA, NAPA-AS1 (F235L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227305	NM_003827.4(NAPA):c.618C>A (p.Phe206Leu)	NAPA, NAPA-AS1 (F206L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238372	NM_003827.4(NAPA):c.608A>G (p.Lys203Arg)	NAPA, NAPA-AS1 (K203R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305453	NM_003827.4(NAPA):c.583A>C (p.Ser195Arg)	NAPA, NAPA-AS1 (S195R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616376	NM_003827.4(NAPA):c.514G>A (p.Ala172Thr)	NAPA, NAPA-AS1 (A172T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175115	NM_003827.4(NAPA):c.371A>G (p.His124Arg)	NAPA, NAPA-AS1 (H124R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3175112	NM_003827.4(NAPA):c.341T>C (p.Met114Thr)	NAPA, NAPA-AS1 (M114T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175109	NM_003827.4(NAPA):c.332A>G (p.Tyr111Cys)	NAPA, NAPA-AS1 (Y111C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337614	NM_003827.4(NAPA):c.322A>G (p.Ile108Val)	NAPA, NAPA-AS1 (I108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175101	NM_003827.4(NAPA):c.271G>A (p.Ala91Thr)	NAPA, NAPA-AS1 (A91T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650155	NM_003827.4(NAPA):c.261C>T (p.Asp87=)	NAPA, NAPA-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2539671	NM_003827.4(NAPA):c.202G>T (p.Ala68Ser)	NAPA, NAPA-AS1 (A68S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333696	NM_003827.4(NAPA):c.190G>A (p.Ala64Thr)	NAPA, NAPA-AS1 (A64T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492318	NM_003827.4(NAPA):c.151A>G (p.Met51Val)	NAPA (M51V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234895	NM_003827.4(NAPA):c.38T>C (p.Leu13Pro)	NAPA (L13P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
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 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688284	GRCh37/hg19 19q13.32-13.33(chr19:47785567-48178258)x3	BICRA, C5AR1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 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 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 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 more	Copy number loss	See cases	GLikely pathogenic

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Items: 33