FAM83E[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3092595	NM_017708.4(FAM83E):c.1342C>T (p.Arg448Trp)	FAM83E (R448W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544542	NM_017708.4(FAM83E):c.1337G>C (p.Arg446Pro)	FAM83E (R446P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092594	NM_017708.4(FAM83E):c.1318C>T (p.Arg440Cys)	FAM83E (R440C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401332	NM_017708.4(FAM83E):c.1306G>A (p.Ala436Thr)	FAM83E (A436T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092593	NM_017708.4(FAM83E):c.1294C>A (p.Pro432Thr)	FAM83E (P432T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277525	NM_017708.4(FAM83E):c.1232G>A (p.Arg411Gln)	FAM83E (R411Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469662	NM_017708.4(FAM83E):c.1166G>C (p.Gly389Ala)	FAM83E (G389A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092592	NM_017708.4(FAM83E):c.1115G>A (p.Arg372His)	FAM83E (R372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216009	NM_017708.4(FAM83E):c.1114C>T (p.Arg372Cys)	FAM83E (R372C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092591	NM_017708.4(FAM83E):c.1093G>A (p.Gly365Ser)	FAM83E (G365S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411294	NM_017708.4(FAM83E):c.1090A>C (p.Ser364Arg)	FAM83E (S364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277527	NM_017708.4(FAM83E):c.1078G>A (p.Ala360Thr)	FAM83E (A360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277523	NM_017708.4(FAM83E):c.1043C>G (p.Pro348Arg)	FAM83E (P348R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092590	NM_017708.4(FAM83E):c.1012G>C (p.Ala338Pro)	FAM83E (A338P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092589	NM_017708.4(FAM83E):c.1003C>T (p.Arg335Cys)	FAM83E (R335C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253433	NM_017708.4(FAM83E):c.992C>G (p.Pro331Arg)	FAM83E (P331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408294	NM_017708.4(FAM83E):c.977C>T (p.Pro326Leu)	FAM83E (P326L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492844	NM_017708.4(FAM83E):c.974C>T (p.Pro325Leu)	FAM83E (P325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396328	NM_017708.4(FAM83E):c.952C>T (p.Arg318Cys)	FAM83E (R318C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384798	NM_017708.4(FAM83E):c.947G>A (p.Arg316His)	FAM83E (R316H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408109	NM_017708.4(FAM83E):c.940G>A (p.Val314Met)	FAM83E (V314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557183	NM_017708.4(FAM83E):c.937C>T (p.Arg313Cys)	FAM83E (R313C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352548	NM_017708.4(FAM83E):c.883C>T (p.Pro295Ser)	FAM83E (P295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382262	NM_017708.4(FAM83E):c.845G>A (p.Arg282Gln)	FAM83E (R282Q)	Single nucleotide variant (missense variant)	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 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 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 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 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 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 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 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 2475352	NM_017708.4(FAM83E):c.730G>C (p.Gly244Arg)	FAM83E (G244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252684	NM_017708.4(FAM83E):c.686G>A (p.Arg229Gln)	FAM83E (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261241	NM_017708.4(FAM83E):c.685C>T (p.Arg229Trp)	FAM83E (R229W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270187	NM_017708.4(FAM83E):c.676C>T (p.Arg226Cys)	FAM83E (R226C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277520	NM_017708.4(FAM83E):c.637G>A (p.Val213Met)	FAM83E (V213M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2598905	NM_017708.4(FAM83E):c.629C>T (p.Thr210Met)	FAM83E (T210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531530	NM_017708.4(FAM83E):c.581C>G (p.Pro194Arg)	FAM83E (P194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278936	NM_017708.4(FAM83E):c.524A>G (p.Asp175Gly)	FAM83E (D175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277521	NM_017708.4(FAM83E):c.464A>G (p.Lys155Arg)	FAM83E (K155R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092598	NM_017708.4(FAM83E):c.439C>T (p.Arg147Trp)	FAM83E (R147W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475513	NM_017708.4(FAM83E):c.421C>T (p.Pro141Ser)	FAM83E (P141S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322040	NM_017708.4(FAM83E):c.401C>T (p.Pro134Leu)	FAM83E (P134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590169	NM_017708.4(FAM83E):c.385C>A (p.Gln129Lys)	FAM83E (Q129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258344	NM_017708.4(FAM83E):c.380G>A (p.Arg127Gln)	FAM83E (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515106	NM_017708.4(FAM83E):c.379C>T (p.Arg127Trp)	FAM83E (R127W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650210	NM_017708.4(FAM83E):c.363G>A (p.Ala121=)	FAM83E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602414	NM_017708.4(FAM83E):c.331G>A (p.Val111Ile)	FAM83E (V111I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2650211	NM_017708.4(FAM83E):c.315G>A (p.Ser105=)	FAM83E	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2490944	NM_017708.4(FAM83E):c.274G>A (p.Asp92Asn)	FAM83E (D92N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493310	NM_017708.4(FAM83E):c.266C>T (p.Thr89Ile)	FAM83E (T89I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525383	NM_017708.4(FAM83E):c.247G>A (p.Gly83Arg)	FAM83E (G83R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597945	NM_017708.4(FAM83E):c.241C>T (p.Pro81Ser)	FAM83E (P81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373114	NM_017708.4(FAM83E):c.203C>G (p.Ala68Gly)	FAM83E (A68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092597	NM_017708.4(FAM83E):c.186T>G (p.Asp62Glu)	FAM83E (D62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092596	NM_017708.4(FAM83E):c.155G>A (p.Arg52His)	FAM83E (R52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591995	NM_017708.4(FAM83E):c.154C>T (p.Arg52Cys)	FAM83E (R52C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362548	NM_017708.4(FAM83E):c.148G>A (p.Val50Met)	FAM83E (V50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325734	NM_017708.4(FAM83E):c.85G>A (p.Glu29Lys)	FAM83E (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538374	NM_017708.4(FAM83E):c.58G>T (p.Gly20Trp)	FAM83E (G20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277524	NM_017708.4(FAM83E):c.41C>T (p.Ser14Phe)	FAM83E (S14F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241339	NM_017708.4(FAM83E):c.23C>T (p.Ala8Val)	FAM83E (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277526	NM_017708.4(FAM83E):c.20C>T (p.Ala7Val)	FAM83E (A7V)	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 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

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Items: 79