28918[HGNC] - ClinVar

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Items: 45

	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 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 3176252	NM_020378.4(NAT14):c.8C>T (p.Pro3Leu)	LOC130065122, NAT14 (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176209	NM_020378.4(NAT14):c.11G>A (p.Ser4Asn)	LOC130065122, NAT14 (S4N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276480	NM_020378.4(NAT14):c.40G>A (p.Asp14Asn)	LOC130065122, NAT14 (D14N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298468	NM_020378.4(NAT14):c.113C>A (p.Ala38Asp)	NAT14 (A38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596507	NM_020378.4(NAT14):c.160G>A (p.Gly54Ser)	NAT14 (G54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612121	NM_020378.4(NAT14):c.172G>T (p.Val58Phe)	NAT14 (V58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616881	NM_020378.4(NAT14):c.371G>A (p.Arg124Gln)	NAT14 (R124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362017	NM_020378.4(NAT14):c.379C>T (p.Arg127Cys)	NAT14 (R127C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408706	NM_020378.4(NAT14):c.407G>A (p.Arg136His)	NAT14 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348756	NM_020378.4(NAT14):c.415G>A (p.Val139Met)	NAT14 (V139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346144	NM_020378.4(NAT14):c.433G>T (p.Ala145Ser)	NAT14 (A145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298466	NM_020378.4(NAT14):c.455G>C (p.Arg152Pro)	NAT14 (R152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298465	NM_020378.4(NAT14):c.482C>A (p.Pro161His)	NAT14 (P161H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176237	NM_020378.4(NAT14):c.485G>A (p.Arg162Gln)	NAT14 (R162Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470320	NM_020378.4(NAT14):c.490C>T (p.Arg164Trp)	NAT14 (R164W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319418	NM_020378.4(NAT14):c.517G>A (p.Ala173Thr)	NAT14 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298467	NM_020378.4(NAT14):c.523G>A (p.Gly175Arg)	NAT14 (G175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334649	NM_020378.4(NAT14):c.523G>C (p.Gly175Arg)	NAT14 (G175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548125	NM_020378.4(NAT14):c.545G>A (p.Gly182Asp)	NAT14 (G182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615317	NM_020378.4(NAT14):c.557A>G (p.Gln186Arg)	NAT14 (Q186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298469	NM_020378.4(NAT14):c.569G>C (p.Gly190Ala)	NAT14 (G190A)	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 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
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 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	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 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 45