ClinVar for Gene (Select 171169) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3447671	NM_133498.3(SPACA4):c.70G>A (p.Val24Ile)	FAM83E, SPACA4 (V24I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3447670	NM_133498.3(SPACA4):c.164C>T (p.Pro55Leu)	SPACA4, FAM83E (P55L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321740	NM_133498.3(SPACA4):c.56G>T (p.Gly19Val)	FAM83E, SPACA4 (G19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167988	NM_133498.3(SPACA4):c.53C>T (p.Thr18Met)	FAM83E, SPACA4 (T18M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167987	NM_133498.3(SPACA4):c.277G>A (p.Gly93Ser)	FAM83E, SPACA4 (G93S)	Single nucleotide variant (missense variant +1 more)	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 2380034	NM_133498.3(SPACA4):c.146C>T (p.Thr49Ile)	FAM83E, SPACA4 (T49I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330744	NM_133498.3(SPACA4):c.50C>T (p.Thr17Met)	FAM83E, SPACA4 (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325709	NM_133498.3(SPACA4):c.157G>T (p.Val53Phe)	FAM83E, SPACA4 (V53F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278697	NM_133498.3(SPACA4):c.58G>A (p.Val20Ile)	FAM83E, SPACA4 (V20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243682	NM_133498.3(SPACA4):c.350T>C (p.Met117Thr)	FAM83E, SPACA4 (M117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238066	NM_133498.3(SPACA4):c.359C>T (p.Pro120Leu)	FAM83E, SPACA4 (P120L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
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 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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
Select item 394298	GRCh37/hg19 19q13.33(chr19:49030319-49114045)x3	FAM83E, SPACA4 +1 more	Copy number gain	See cases	GBenign
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
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 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25