ClinVar for Gene (Select 221191) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310729	NM_001305173.2(PRSS54):c.814G>C (p.Gly272Arg)	CFAP263, PRSS54 (G272R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310728	NM_001305173.2(PRSS54):c.779A>T (p.Tyr260Phe)	CFAP263, PRSS54 (Y161F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310727	NM_001305173.2(PRSS54):c.462G>T (p.Met154Ile)	PRSS54 (M154I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310726	NM_001305173.2(PRSS54):c.1149G>T (p.Leu383Phe)	CFAP263, PRSS54 (L383F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3310724	NM_001305173.2(PRSS54):c.61C>T (p.Leu21Phe)	PRSS54 (L21F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3219920	NM_001305173.2(PRSS54):c.908A>G (p.Asp303Gly)	CFAP263, PRSS54 (D204G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219919	NM_001305173.2(PRSS54):c.821C>G (p.Pro274Arg)	CFAP263, PRSS54 (P274R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219918	NM_001305173.2(PRSS54):c.742T>G (p.Cys248Gly)	CFAP263, PRSS54 (C149G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219917	NM_001305173.2(PRSS54):c.341C>T (p.Thr114Ile)	PRSS54 (T15I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219916	NM_001305173.2(PRSS54):c.250G>A (p.Ala84Thr)	PRSS54 (A84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219915	NM_001305173.2(PRSS54):c.20T>C (p.Leu7Pro)	PRSS54 (L7P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219914	NM_001305173.2(PRSS54):c.208G>A (p.Gly70Ser)	PRSS54 (G70S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2533398	NM_001305173.2(PRSS54):c.44G>A (p.Gly15Glu)	PRSS54 (G15E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531124	NM_001305173.2(PRSS54):c.1051G>A (p.Val351Ile)	CFAP263, PRSS54 (V252I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2520754	NM_001305173.2(PRSS54):c.16G>A (p.Gly6Ser)	PRSS54 (G6S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509529	NM_001305173.2(PRSS54):c.11C>T (p.Ala4Val)	PRSS54 (A4V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493878	NM_001305173.2(PRSS54):c.1130A>T (p.Gln377Leu)	CFAP263, PRSS54 (Q278L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 2405357	NM_001305173.2(PRSS54):c.1078G>A (p.Gly360Ser)	CFAP263, PRSS54 (G360S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400945	NM_001305173.2(PRSS54):c.539C>T (p.Thr180Met)	PRSS54 (T180M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397060	NM_001305173.2(PRSS54):c.1046C>T (p.Ala349Val)	CFAP263, PRSS54 (A349V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2370925	NM_001305173.2(PRSS54):c.133G>A (p.Glu45Lys)	PRSS54 (E45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349677	NM_001305173.2(PRSS54):c.277G>A (p.Val93Ile)	PRSS54 (V93I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323217	NM_001305173.2(PRSS54):c.661C>G (p.Pro221Ala)	CFAP263, PRSS54 (P122A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306280	NM_001305173.2(PRSS54):c.56T>C (p.Val19Ala)	PRSS54 (V19A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292670	NM_001305173.2(PRSS54):c.4G>T (p.Val2Leu)	PRSS54 (V2L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265267	NM_001305173.2(PRSS54):c.347T>C (p.Ile116Thr)	PRSS54 (I116T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264683	NM_001305173.2(PRSS54):c.953G>C (p.Arg318Thr)	CFAP263, PRSS54 (R318T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252443	NM_001305173.2(PRSS54):c.644C>T (p.Thr215Ile)	PRSS54 (T116I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241718	NM_001305173.2(PRSS54):c.962C>T (p.Thr321Met)	CFAP263, PRSS54 (T222M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807756	GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3	HERPUD1, IRX3 +99 more	Copy number gain	not provided	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 980681	GRCh37/hg19 16q21(chr16:58143012-58686508)x3	CCDC113, CFAP20 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980679	GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1	CCL17, ADGRG1 +28 more	Copy number loss	not provided	GUncertain significance
Select item 710089	NM_001305173.2(PRSS54):c.586C>G (p.Pro196Ala)	PRSS54 (P196A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687857	GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3	ADGRG1, ADGRG3 +68 more	Copy number gain	not provided	GUncertain significance
Select item 564334	GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1	ADGRG1, ADGRG3 +35 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443550	GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3	ABCC11, ABCC12 +100 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 59992	GRCh38/hg38 16q21(chr16:58082578-58578082)x3	CCDC113, CFAP20 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 58