5187[HGNC] - ClinVar

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Items: 31

	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 147632	GRCh38/hg38 19q13.33(chr19:49623273-49747363)x3	ADM5, BCL2L12 +17 more	Copy number gain	See cases	GBenign
Select item 1239630	NC_000019.10:g.49677009C>G	PRMT1	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 3310231	NM_001536.6(PRMT1):c.43G>C (p.Val15Leu)	PRMT1 (V15L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598407	NM_001536.6(PRMT1):c.128A>G (p.Asn43Ser)	PRMT1 (N25S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405841	NM_001536.6(PRMT1):c.130G>C (p.Ala44Pro)	PRMT1 (A44P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769982	NM_001536.6(PRMT1):c.135G>A (p.Glu45=)	PRMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2335830	NM_001536.6(PRMT1):c.335G>A (p.Arg112His)	PRMT1 (R112H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310233	NM_001536.6(PRMT1):c.424A>G (p.Ile142Val)	PRMT1 (I124V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285334	NM_001536.6(PRMT1):c.557C>T (p.Ala186Val)	LOC130064939, PRMT1 (A186V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2250058	NM_001536.6(PRMT1):c.617G>A (p.Arg206Gln)	PRMT1 (R188Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3310232	NM_001536.6(PRMT1):c.700G>C (p.Glu234Gln)	PRMT1 (E216Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333901	NM_001536.6(PRMT1):c.745G>A (p.Ala249Thr)	PRMT1 (A249T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526627	NM_001536.6(PRMT1):c.841G>A (p.Val281Met)	PRMT1 (V195M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218914	NM_001536.6(PRMT1):c.955A>C (p.Met319Leu)	PRMT1 (M233L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261998	NM_001536.6(PRMT1):c.980C>T (p.Thr327Met)	PRMT1 (T309M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650283	NM_001536.6(PRMT1):c.981G>A (p.Thr327=)	PRMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2395389	NM_001536.6(PRMT1):c.991A>G (p.Ile331Val)	PRMT1 (I245V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209502	NM_001536.6(PRMT1):c.1106G>A (p.Arg369Gln)	PRMT1 (R369Q +2 more)	Single nucleotide variant (missense variant +1 more)	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: 31