30828[HGNC] - ClinVar

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Items: 29

	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 3220849	NM_178449.4(PTH2):c.296C>T (p.Ala99Val)	PTH2 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396319	NM_178449.4(PTH2):c.296C>A (p.Ala99Glu)	PTH2 (A99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318580	NM_178449.4(PTH2):c.271A>C (p.Met91Leu)	PTH2 (M91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601894	NM_178449.4(PTH2):c.227G>C (p.Arg76Pro)	PTH2 (R76P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347817	NM_178449.4(PTH2):c.227G>T (p.Arg76Leu)	PTH2 (R76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261779	NM_178449.4(PTH2):c.226C>T (p.Arg76Trp)	PTH2 (R76W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311332	NM_178449.4(PTH2):c.211T>C (p.Phe71Leu)	PTH2 (F71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483470	NM_178449.4(PTH2):c.200A>G (p.Asp67Gly)	PTH2 (D67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350855	NM_178449.4(PTH2):c.175C>A (p.Pro59Thr)	PTH2 (P59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220848	NM_178449.4(PTH2):c.146G>A (p.Arg49Gln)	PTH2 (R49Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531540	NM_178449.4(PTH2):c.139C>G (p.Pro47Ala)	PTH2 (P47A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397937	NM_178449.4(PTH2):c.118G>A (p.Gly40Arg)	PTH2 (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216358	NM_178449.4(PTH2):c.113C>G (p.Pro38Arg)	PTH2 (P38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215448	NM_178449.4(PTH2):c.104C>T (p.Ala35Val)	PTH2 (A35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288773	NM_178449.4(PTH2):c.76T>A (p.Trp26Arg)	PTH2 (W26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220850	NM_178449.4(PTH2):c.73C>G (p.Pro25Ala)	PTH2 (P25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
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 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	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 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 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

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Items: 29