ClinVar for Gene (Select 199800) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	MED25, RRAS +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3089568	NM_001101340.2(ADM5):c.46G>T (p.Ala16Ser)	ADM5 (A16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089565	NM_001101340.2(ADM5):c.397A>T (p.Ile133Phe)	ADM5 (I133F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089562	NM_001101340.2(ADM5):c.394C>T (p.His132Tyr)	ADM5 (H132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089555	NM_001101340.2(ADM5):c.324G>C (p.Trp108Cys)	ADM5 (W108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089548	NM_001101340.2(ADM5):c.269G>T (p.Arg90Leu)	ADM5 (R90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089542	NM_001101340.2(ADM5):c.269G>A (p.Arg90Gln)	ADM5 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089529	NM_001101340.2(ADM5):c.104G>A (p.Arg35His)	ADM5 (R35H)	Single nucleotide variant (missense variant)	not specified	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 2559876	NM_001101340.2(ADM5):c.167T>C (p.Ile56Thr)	ADM5 (I56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404694	NM_001101340.2(ADM5):c.341C>T (p.Ala114Val)	ADM5 (A114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354496	NM_001101340.2(ADM5):c.335G>C (p.Gly112Ala)	ADM5 (G112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233183	NM_001101340.2(ADM5):c.256G>A (p.Gly86Arg)	ADM5 (G86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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	CGB7, CGB8 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25