ClinVar for Gene (Select 64785) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281412	NM_022770.4(GINS3):c.433C>T (p.Arg145Cys)	GINS3 (R184C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281411	NM_022770.4(GINS3):c.443G>T (p.Arg148Leu)	GINS3 (R187L +2 more)	Single nucleotide variant (missense variant)	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 3099871	NM_022770.4(GINS3):c.73A>T (p.Ile25Phe)	GINS3 (I25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099870	NM_022770.4(GINS3):c.25G>C (p.Glu9Gln)	GINS3 (E9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099869	NM_022770.4(GINS3):c.149G>C (p.Arg50Pro)	GINS3 (R50P)	Single nucleotide variant (missense variant)	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 3036998	NM_022770.4(GINS3):c.186+2385C>A	GINS3 (A86D)	Single nucleotide variant (missense variant +1 more)	GINS3-related disorder	GLikely benign
Select item 2594427	NM_022770.4(GINS3):c.380A>G (p.Asp127Gly)	GINS3 (D127G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552720	NM_022770.4(GINS3):c.641T>C (p.Met214Thr)	GINS3 (M136T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471182	NM_022770.4(GINS3):c.118A>G (p.Met40Val)	GINS3 (M40V)	Single nucleotide variant (missense variant)	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 2403416	NM_022770.4(GINS3):c.379G>A (p.Asp127Asn)	GINS3 (D166N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386620	NM_022770.4(GINS3):c.40G>A (p.Gly14Arg)	GINS3 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361131	NM_022770.4(GINS3):c.245G>A (p.Arg82Gln)	GINS3 (R121Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278093	NM_022770.4(GINS3):c.226C>G (p.Leu76Val)	GINS3 (L115V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263271	NM_022770.4(GINS3):c.262C>A (p.Leu88Ile)	GINS3 (L127I +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 928856	NM_022770.4(GINS3):c.242G>A (p.Arg81Gln)	GINS3 (R120Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 632838	NM_022770.4(GINS3):c.287G>C (p.Trp96Ser)	GINS3 (W96S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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: 44