PROM2[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 148257	GRCh38/hg38 2q11.1(chr2:94751190-95675040)x3	FAHD2A, FAM95A +26 more	Copy number gain	See cases	GLikely benign
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 152512	GRCh38/hg38 2q11.1(chr2:95079592-95408265)x3	FAHD2A, KCNIP3 +13 more	Copy number gain	See cases	GUncertain significance
Select item 148297	GRCh38/hg38 2q11.1(chr2:95134069-95493527)x1	FAHD2A, KCNIP3 +12 more	Copy number loss	See cases	GUncertain significance
Select item 155574	GRCh38/hg38 2q11.1(chr2:95143653-95431499)x1	FAHD2A, KCNIP3 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2254038	NM_001165978.3(PROM2):c.77G>A (p.Gly26Glu)	PROM2 (G26E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324552	NM_001165978.3(PROM2):c.142C>T (p.Arg48Trp)	PROM2 (R48W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309813	NM_001165978.3(PROM2):c.151G>A (p.Ala51Thr)	PROM2 (A51T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346945	NM_001165978.3(PROM2):c.215C>T (p.Ser72Leu)	PROM2 (S72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219040	NM_001165978.3(PROM2):c.286G>A (p.Val96Met)	PROM2 (V96M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375634	NM_001165978.3(PROM2):c.301C>T (p.Arg101Trp)	PROM2 (R101W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301261	NM_001165978.3(PROM2):c.416G>A (p.Arg139Gln)	PROM2 (R139Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219044	NM_001165978.3(PROM2):c.442G>A (p.Ala148Thr)	PROM2 (A148T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340849	NM_001165978.3(PROM2):c.457G>T (p.Ala153Ser)	PROM2 (A153S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344275	NM_001165978.3(PROM2):c.536C>T (p.Thr179Met)	PROM2 (T179M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375635	NM_001165978.3(PROM2):c.559A>T (p.Ile187Phe)	PROM2 (I187F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245662	NM_001165978.3(PROM2):c.562G>A (p.Glu188Lys)	PROM2 (E188K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361400	NM_001165978.3(PROM2):c.589C>T (p.Leu197Phe)	PROM2 (L197F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218429	NM_001165978.3(PROM2):c.631G>A (p.Val211Met)	PROM2 (V211M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219045	NM_001165978.3(PROM2):c.646T>C (p.Ser216Pro)	PROM2 (S216P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536590	NM_001165978.3(PROM2):c.763T>G (p.Leu255Val)	PROM2 (L255V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219046	NM_001165978.3(PROM2):c.766G>A (p.Gly256Ser)	PROM2 (G256S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3219047	NM_001165978.3(PROM2):c.823G>A (p.Glu275Lys)	PROM2 (E275K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711668	NM_001165978.3(PROM2):c.831G>A (p.Gln277=)	PROM2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3219048	NM_001165978.3(PROM2):c.871C>T (p.Arg291Trp)	PROM2 (R291W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367962	NM_001165978.3(PROM2):c.917A>T (p.Asp306Val)	PROM2 (D306V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374488	NM_001165978.3(PROM2):c.1024G>A (p.Ala342Thr)	PROM2 (A342T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490098	NM_001165978.3(PROM2):c.1121A>C (p.Lys374Thr)	PROM2 (K374T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384627	NM_001165978.3(PROM2):c.1235G>A (p.Arg412His)	PROM2 (R66H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556886	NM_001165978.3(PROM2):c.1291G>A (p.Val431Met)	PROM2 (V431M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219028	NM_001165978.3(PROM2):c.1307T>C (p.Val436Ala)	PROM2 (V90A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560411	NM_001165978.3(PROM2):c.1315G>A (p.Val439Met)	PROM2 (V93M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219029	NM_001165978.3(PROM2):c.1393G>A (p.Ala465Thr)	PROM2 (A465T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219030	NM_001165978.3(PROM2):c.1409G>A (p.Gly470Glu)	PROM2 (G470E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236240	NM_001165978.3(PROM2):c.1415G>A (p.Arg472His)	PROM2 (R126H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297548	NM_001165978.3(PROM2):c.1460C>T (p.Pro487Leu)	PROM2 (P141L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219031	NM_001165978.3(PROM2):c.1504G>A (p.Val502Met)	PROM2 (V156M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219032	NM_001165978.3(PROM2):c.1568G>C (p.Gly523Ala)	PROM2 (G523A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219033	NM_001165978.3(PROM2):c.1579C>T (p.Pro527Ser)	PROM2 (P181S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492077	NM_001165978.3(PROM2):c.1634A>C (p.Gln545Pro)	PROM2 (Q199P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364389	NM_001165978.3(PROM2):c.1730A>G (p.Tyr577Cys)	PROM2 (Y231C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407094	NM_001165978.3(PROM2):c.1744C>T (p.Arg582Trp)	PROM2 (R236W +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219035	NM_001165978.3(PROM2):c.1760G>C (p.Ser587Thr)	PROM2 (S241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560050	NM_001165978.3(PROM2):c.1864T>C (p.Phe622Leu)	PROM2 (F622L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517483	NM_001165978.3(PROM2):c.1898C>T (p.Thr633Ile)	PROM2 (T287I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547439	NM_001165978.3(PROM2):c.1942G>T (p.Ala648Ser)	PROM2 (A302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219036	NM_001165978.3(PROM2):c.1983G>T (p.Glu661Asp)	PROM2 (E661D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334902	NM_001165978.3(PROM2):c.2053C>A (p.Leu685Ile)	PROM2 (L339I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622537	NM_001165978.3(PROM2):c.2089C>A (p.Leu697Ile)	PROM2 (L697I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219037	NM_001165978.3(PROM2):c.2105C>T (p.Ser702Leu)	PROM2 (S356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222828	NM_001165978.3(PROM2):c.2108A>G (p.Asp703Gly)	PROM2 (D703G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2651118	NM_001165978.3(PROM2):c.2196C>G (p.Ala732=)	PROM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569961	NM_001165978.3(PROM2):c.2221T>A (p.Tyr741Asn)	PROM2 (Y741N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588364	NM_001165978.3(PROM2):c.2224G>A (p.Val742Met)	PROM2 (V742M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239029	NM_001165978.3(PROM2):c.2249C>T (p.Thr750Ile)	PROM2 (T404I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219038	NM_001165978.3(PROM2):c.2287C>G (p.Leu763Val)	PROM2 (L417V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219039	NM_001165978.3(PROM2):c.2294A>G (p.Asn765Ser)	PROM2 (N419S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222244	NM_001165978.3(PROM2):c.2299C>T (p.Arg767Cys)	PROM2 (R767C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392862	NM_001165978.3(PROM2):c.2300G>A (p.Arg767His)	PROM2 (R767H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292668	NM_001165978.3(PROM2):c.2338G>A (p.Ala780Thr)	PROM2 (A780T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651119	NM_001165978.3(PROM2):c.2370C>A (p.Phe790Leu)	PROM2 (F444L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2490012	NM_001165978.3(PROM2):c.2410A>G (p.Lys804Glu)	PROM2 (K804E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2685856	GRCh37/hg19 2q11.1(chr2:95341687-96259199)x3	FAHD2A, KCNIP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1809050	GRCh37/hg19 2q11.1(chr2:95777121-96248568)x3	FAHD2A, KCNIP3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526874	GRCh37/hg19 2q11.1(chr2:95341387-96735978)	ANKRD36C, FAHD2A +10 more	Copy number loss	not specified	GUncertain significance
Select item 1340501	GRCh37/hg19 2q11.1(chr2:95341686-96193214)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 813848	GRCh37/hg19 2q11.1(chr2:95945437-96259086)x3	ANKRD36C, FAHD2A +5 more	Copy number gain	Autism +1 more	GUncertain significance
Select item 689146	GRCh37/hg19 2q11.1(chr2:95800306-96097247)x1	FAHD2A, KCNIP3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687921	GRCh37/hg19 2q11.1(chr2:95476818-96193825)x3	FAHD2A, KCNIP3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 562639	GRCh37/hg19 2q11.1(chr2:95341387-96719347)x1	ANKRD36C, FAHD2A +10 more	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394292	GRCh37/hg19 2q11.1(chr2:95944627-96147433)x3	FAHD2A, KCNIP3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 221788	GRCh37/hg19 2q11.1(chr2:95444917-95977790)x3	TEKT4, ZNF2 +5 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 84