ClinVar for Gene (Select 83449) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 137

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308042	NM_031293.3(PMFBP1):c.1103T>G (p.Ile368Ser)	PMFBP1 (I368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308041	NM_031293.3(PMFBP1):c.1909C>A (p.Leu637Ile)	PMFBP1 (L637I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308040	NM_031293.3(PMFBP1):c.550A>G (p.Lys184Glu)	PMFBP1 (K39E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308039	NM_031293.3(PMFBP1):c.85C>G (p.Leu29Val)	PMFBP1 (L29V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3308038	NM_031293.3(PMFBP1):c.2554G>T (p.Ala852Ser)	PMFBP1 (A707S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308037	NM_031293.3(PMFBP1):c.2659A>T (p.Met887Leu)	PMFBP1 (M742L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308036	NM_031293.3(PMFBP1):c.2735T>C (p.Val912Ala)	PMFBP1 (V912A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308035	NM_031293.3(PMFBP1):c.2392C>T (p.Arg798Trp)	PMFBP1 (R653W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308034	NM_031293.3(PMFBP1):c.808G>T (p.Val270Phe)	PMFBP1 (V125F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308033	NM_031293.3(PMFBP1):c.2642G>A (p.Arg881Gln)	PMFBP1 (R881Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308032	NM_031293.3(PMFBP1):c.997C>T (p.Arg333Cys)	PMFBP1 (R333C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215818	NM_031293.3(PMFBP1):c.853G>A (p.Ala285Thr)	PMFBP1 (A140T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215817	NM_031293.3(PMFBP1):c.770A>G (p.Gln257Arg)	PMFBP1 (Q112R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215816	NM_031293.3(PMFBP1):c.763C>G (p.Leu255Val)	PMFBP1 (L110V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215814	NM_031293.3(PMFBP1):c.2642G>T (p.Arg881Leu)	PMFBP1 (R736L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215813	NM_031293.3(PMFBP1):c.2573T>C (p.Leu858Pro)	PMFBP1 (L858P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215812	NM_031293.3(PMFBP1):c.2341A>G (p.Ile781Val)	PMFBP1 (I781V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215811	NM_031293.3(PMFBP1):c.2321C>T (p.Ala774Val)	PMFBP1 (A774V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215810	NM_031293.3(PMFBP1):c.2232C>A (p.Asp744Glu)	PMFBP1 (D599E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215809	NM_031293.3(PMFBP1):c.2227G>T (p.Asp743Tyr)	PMFBP1 (D598Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215808	NM_031293.3(PMFBP1):c.2064A>T (p.Gln688His)	PMFBP1 (Q688H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215807	NM_031293.3(PMFBP1):c.1885C>T (p.His629Tyr)	PMFBP1 (H484Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215805	NM_031293.3(PMFBP1):c.1817A>C (p.Glu606Ala)	PMFBP1 (E461A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215804	NM_031293.3(PMFBP1):c.1769G>A (p.Arg590His)	PMFBP1 (R590H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215803	NM_031293.3(PMFBP1):c.1717C>T (p.Leu573Phe)	PMFBP1 (L428F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215802	NM_031293.3(PMFBP1):c.1573C>G (p.Gln525Glu)	PMFBP1 (Q380E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060170	NM_031293.3(PMFBP1):c.514G>A (p.Ala172Thr)	PMFBP1 (A172T +1 more)	Single nucleotide variant (missense variant)	PMFBP1-related disorder	GBenign
Select item 3057634	NM_031293.3(PMFBP1):c.1215G>A (p.Glu405=)	PMFBP1	Single nucleotide variant (synonymous variant)	PMFBP1-related disorder	GLikely benign
Select item 3055825	NM_031293.3(PMFBP1):c.577G>A (p.Glu193Lys)	PMFBP1 (E193K +1 more)	Single nucleotide variant (missense variant)	PMFBP1-related disorder	GBenign
Select item 3055584	NM_031293.3(PMFBP1):c.2769-22G>A	PMFBP1 (R791H)	Single nucleotide variant (missense variant +1 more)	PMFBP1-related disorder	GBenign
Select item 3050751	NM_031293.3(PMFBP1):c.1815AGA[2] (p.Glu607del)	PMFBP1 (E462del +1 more)	Microsatellite (inframe deletion)	PMFBP1-related disorder	GLikely benign
Select item 3050517	NM_031293.3(PMFBP1):c.1654C>G (p.Leu552Val)	PMFBP1 (L407V +1 more)	Single nucleotide variant (missense variant)	PMFBP1-related disorder	GLikely benign
Select item 3049698	NM_031293.3(PMFBP1):c.1081C>T (p.Arg361Trp)	PMFBP1 (R216W +1 more)	Single nucleotide variant (missense variant)	PMFBP1-related disorder	GLikely benign
Select item 3049573	NM_031293.3(PMFBP1):c.1769G>C (p.Arg590Pro)	PMFBP1 (R445P +1 more)	Single nucleotide variant (missense variant)	PMFBP1-related disorder	GBenign
Select item 3047103	NM_031293.3(PMFBP1):c.373C>T (p.Leu125=)	PMFBP1	Single nucleotide variant (5 prime UTR variant +1 more)	PMFBP1-related disorder	GLikely benign
Select item 3046896	NM_031293.3(PMFBP1):c.501C>T (p.Ala167=)	PMFBP1	Single nucleotide variant (synonymous variant)	PMFBP1-related disorder	GLikely benign
Select item 3044398	NM_031293.3(PMFBP1):c.2693+8T>C	PMFBP1	Single nucleotide variant (intron variant)	PMFBP1-related disorder	GLikely benign
Select item 3042510	NM_031293.3(PMFBP1):c.512T>G (p.Ile171Ser)	PMFBP1 (I171S +1 more)	Single nucleotide variant (missense variant)	PMFBP1-related disorder	GBenign
Select item 3038483	NM_031293.3(PMFBP1):c.1113G>A (p.Lys371=)	PMFBP1	Single nucleotide variant (synonymous variant)	PMFBP1-related disorder	GLikely benign
Select item 3037134	NM_031293.3(PMFBP1):c.*2A>T	PMFBP1	Single nucleotide variant (3 prime UTR variant)	PMFBP1-related disorder	GBenign
Select item 3024866	NM_031293.3(PMFBP1):c.2256C>T (p.Leu752=)	PMFBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2646809	NM_031293.3(PMFBP1):c.624G>A (p.Gly208=)	PMFBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2608216	NM_031293.3(PMFBP1):c.802G>A (p.Ala268Thr)	PMFBP1 (A268T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602811	NM_031293.3(PMFBP1):c.277C>T (p.Leu93Phe)	PMFBP1 (L93F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2601583	NM_031293.3(PMFBP1):c.1351G>T (p.Asp451Tyr)	PMFBP1 (D451Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598220	NM_031293.3(PMFBP1):c.2581G>A (p.Asp861Asn)	PMFBP1 (D716N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580173	NM_031293.3(PMFBP1):c.841C>T (p.Gln281Ter)	PMFBP1 (Q136* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 31	GPathogenic
Select item 2561170	NM_031293.3(PMFBP1):c.2885C>T (p.Pro962Leu)	PMFBP1 (P837L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560624	NM_031293.3(PMFBP1):c.3020G>A (p.Cys1007Tyr)	PMFBP1 (C882Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558473	NM_031293.3(PMFBP1):c.2903C>T (p.Thr968Ile)	PMFBP1 (T843I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546907	NM_031293.3(PMFBP1):c.132G>T (p.Gln44His)	PMFBP1 (Q44H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2539066	NM_031293.3(PMFBP1):c.2321C>A (p.Ala774Asp)	PMFBP1 (A629D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527520	NM_031293.3(PMFBP1):c.1141C>T (p.Arg381Trp)	PMFBP1 (R236W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508009	NM_031293.3(PMFBP1):c.887G>C (p.Ser296Thr)	PMFBP1 (S296T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499679	NM_031293.3(PMFBP1):c.1888G>T (p.Glu630Ter)	PMFBP1 (E485* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 31	GLikely pathogenic
Select item 2495469	NM_031293.3(PMFBP1):c.1115A>T (p.Asp372Val)	PMFBP1 (D227V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487666	NM_031293.3(PMFBP1):c.2267C>T (p.Thr756Ile)	PMFBP1 (T611I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468384	NM_031293.3(PMFBP1):c.2375C>T (p.Thr792Met)	PMFBP1 (T647M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466360	NM_031293.3(PMFBP1):c.467A>G (p.Lys156Arg)	PMFBP1 (K156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464779	NM_031293.3(PMFBP1):c.1417G>A (p.Glu473Lys)	PMFBP1 (E473K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456539	NM_031293.3(PMFBP1):c.895G>A (p.Glu299Lys)	PMFBP1 (E154K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2435090	NM_031293.3(PMFBP1):c.1009G>A (p.Glu337Lys)	PMFBP1 (E192K +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 31	GUncertain significance
Select item 2398881	NM_031293.3(PMFBP1):c.917A>G (p.Lys306Arg)	PMFBP1 (K161R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386785	NM_031293.3(PMFBP1):c.1937A>G (p.Lys646Arg)	PMFBP1 (K646R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369595	NM_031293.3(PMFBP1):c.1642C>T (p.Arg548Trp)	PMFBP1 (R403W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369045	NM_031293.3(PMFBP1):c.2785A>G (p.Met929Val)	PMFBP1 (M929V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356097	NM_031293.3(PMFBP1):c.2487C>G (p.His829Gln)	LOC130059368, PMFBP1 (H684Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355126	NM_031293.3(PMFBP1):c.671G>A (p.Arg224Gln)	PMFBP1 (R79Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353853	NM_031293.3(PMFBP1):c.1594C>A (p.Gln532Lys)	PMFBP1 (Q387K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336232	NM_031293.3(PMFBP1):c.2535G>C (p.Glu845Asp)	PMFBP1 (E845D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334656	NM_031293.3(PMFBP1):c.1019C>T (p.Ser340Leu)	PMFBP1 (S195L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322760	NM_031293.3(PMFBP1):c.139A>G (p.Met47Val)	PMFBP1 (M47V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2317408	NM_031293.3(PMFBP1):c.1271T>A (p.Leu424His)	PMFBP1 (L424H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311120	NM_031293.3(PMFBP1):c.1870A>G (p.Lys624Glu)	PMFBP1 (K479E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311119	NM_031293.3(PMFBP1):c.1825C>G (p.Leu609Val)	PMFBP1 (L464V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308766	NM_031293.3(PMFBP1):c.130C>G (p.Gln44Glu)	PMFBP1 (Q44E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308126	NM_031293.3(PMFBP1):c.995T>C (p.Leu332Pro)	PMFBP1 (L187P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297406	NM_031293.3(PMFBP1):c.1003G>A (p.Glu335Lys)	PMFBP1 (E335K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291807	NM_031293.3(PMFBP1):c.304G>A (p.Glu102Lys)	PMFBP1 (E102K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2288333	NM_031293.3(PMFBP1):c.887G>A (p.Ser296Asn)	PMFBP1 (S296N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285936	NM_031293.3(PMFBP1):c.1058T>C (p.Leu353Pro)	PMFBP1 (L208P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277009	NM_031293.3(PMFBP1):c.769C>G (p.Gln257Glu)	PMFBP1 (Q257E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276378	NM_031293.3(PMFBP1):c.1537C>A (p.Leu513Met)	PMFBP1 (L513M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264233	NM_031293.3(PMFBP1):c.883C>T (p.Pro295Ser)	PMFBP1 (P150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246348	NM_031293.3(PMFBP1):c.766A>T (p.Ile256Phe)	PMFBP1 (I256F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227308	NM_031293.3(PMFBP1):c.2114T>C (p.Met705Thr)	PMFBP1 (M560T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221982	NM_031293.3(PMFBP1):c.914A>G (p.Lys305Arg)	PMFBP1 (K160R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219430	NM_031293.3(PMFBP1):c.335G>A (p.Arg112His)	PMFBP1 (R112H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2217819	NM_031293.3(PMFBP1):c.2740T>G (p.Tyr914Asp)	PMFBP1 (Y769D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2216841	NM_031293.3(PMFBP1):c.2061G>C (p.Gln687His)	PMFBP1 (Q542H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209008	NM_031293.3(PMFBP1):c.707A>G (p.Gln236Arg)	PMFBP1 (Q236R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208589	NM_031293.3(PMFBP1):c.1582C>G (p.Leu528Val)	PMFBP1 (L383V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809158	GRCh37/hg19 16q22.2(chr16:71799420-72372326)x1	AP1G1, ATXN1L +9 more	Copy number loss	not provided	GUncertain significance
Select item 1808260	GRCh37/hg19 16q22.2(chr16:72133565-72878837)x3	DHX38, PMFBP1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	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 1272687	NM_031293.3(PMFBP1):c.2739A>C (p.Lys913Asn)	PMFBP1 (K768N +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 31 +2 more	GBenign

<< First< Prev

Page of 2