ClinVar for Gene (Select 164045) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284187	NM_001017975.6(HFM1):c.2622T>G (p.Asp874Glu)	HFM1 (D874E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284186	NM_001017975.6(HFM1):c.4200T>A (p.Phe1400Leu)	HFM1 (F1400L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284184	NM_001017975.6(HFM1):c.2701G>A (p.Ala901Thr)	HFM1 (A901T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284183	NM_001017975.6(HFM1):c.3527A>G (p.Tyr1176Cys)	HFM1 (Y1176C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284182	NM_001017975.6(HFM1):c.540T>A (p.Asn180Lys)	HFM1 (N180K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284181	NM_001017975.6(HFM1):c.4260A>C (p.Glu1420Asp)	HFM1 (E1420D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284180	NM_001017975.6(HFM1):c.3514A>G (p.Thr1172Ala)	HFM1 (T1172A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3284179	NM_001017975.6(HFM1):c.3860A>T (p.Asp1287Val)	HFM1 (D1287V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247718	NC_000001.10:g.(?_91726847)_(93307422_?)dup	BRDT, BTBD8 +12 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 3105626	NM_001017975.6(HFM1):c.97G>A (p.Asp33Asn)	HFM1 (D33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105624	NM_001017975.6(HFM1):c.94T>G (p.Leu32Val)	HFM1 (L32V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105623	NM_001017975.6(HFM1):c.488G>A (p.Arg163Gln)	HFM1 (R163Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105621	NM_001017975.6(HFM1):c.3998C>T (p.Ser1333Leu)	HFM1 (S1333L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105620	NM_001017975.6(HFM1):c.3640C>G (p.Pro1214Ala)	HFM1 (P1214A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105619	NM_001017975.6(HFM1):c.3611G>A (p.Ser1204Asn)	HFM1 (S1204N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105618	NM_001017975.6(HFM1):c.3533C>G (p.Ser1178Cys)	HFM1 (S1178C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105617	NM_001017975.6(HFM1):c.3329C>A (p.Ser1110Tyr)	HFM1 (S1110Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105616	NM_001017975.6(HFM1):c.296A>G (p.Tyr99Cys)	HFM1 (Y99C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105615	NM_001017975.6(HFM1):c.2357G>C (p.Trp786Ser)	HFM1 (W786S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105614	NM_001017975.6(HFM1):c.2299A>G (p.Ile767Val)	HFM1 (I767V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105613	NM_001017975.6(HFM1):c.1841G>C (p.Ser614Thr)	HFM1 (S614T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058523	NM_001017975.6(HFM1):c.494+10A>T	HFM1	Single nucleotide variant (intron variant)	HFM1-related disorder	GLikely benign
Select item 3058451	NM_001017975.6(HFM1):c.1998A>C (p.Ala666=)	HFM1	Single nucleotide variant (synonymous variant)	HFM1-related disorder	GLikely benign
Select item 3057745	NM_001017975.6(HFM1):c.2254+6A>G	HFM1	Single nucleotide variant (intron variant)	HFM1-related disorder	GLikely benign
Select item 3052849	NM_001017975.6(HFM1):c.831A>G (p.Glu277=)	HFM1	Single nucleotide variant (synonymous variant +1 more)	HFM1-related disorder	GLikely benign
Select item 3052410	NM_001017975.6(HFM1):c.3120A>C (p.Val1040=)	HFM1	Single nucleotide variant (synonymous variant +1 more)	HFM1-related disorder	GLikely benign
Select item 3051589	NM_001017975.6(HFM1):c.754+8C>T	HFM1	Single nucleotide variant (intron variant)	HFM1-related disorder	GLikely benign
Select item 3050138	NM_001017975.6(HFM1):c.3140+7G>T	HFM1	Single nucleotide variant (intron variant)	HFM1-related disorder	GLikely benign
Select item 3042265	NM_001017975.6(HFM1):c.2286A>G (p.Ser762=)	HFM1	Single nucleotide variant (synonymous variant)	HFM1-related disorder	GBenign
Select item 3025165	NM_001017975.6(HFM1):c.1059A>G (p.Lys353=)	HFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2685811	GRCh37/hg19 1p22.2-22.1(chr1:91831195-92310841)x3	CDC7, HFM1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685809	GRCh37/hg19 1p22.2(chr1:88895486-91863052)x3	BARHL2, GBP1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2638928	NM_001017975.6(HFM1):c.1477A>C (p.Lys493Gln)	HFM1 (K493Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2638927	NM_001017975.6(HFM1):c.3396G>A (p.Thr1132=)	HFM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2627515	NM_001017975.6(HFM1):c.2T>C (p.Met1Thr)	HFM1 (M1T)	Single nucleotide variant (missense variant +2 more)	Premature ovarian failure 9	GLikely pathogenic
Select item 2622874	NM_001017975.6(HFM1):c.4202T>A (p.Ile1401Asn)	HFM1 (I1401N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607225	NM_001017975.6(HFM1):c.1562T>C (p.Ile521Thr)	HFM1 (I521T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605802	NM_001017975.6(HFM1):c.1703A>C (p.Tyr568Ser)	HFM1 (Y568S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605162	NM_001017975.6(HFM1):c.679T>C (p.Ser227Pro)	HFM1 (S227P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558458	NM_001017975.6(HFM1):c.2315G>A (p.Gly772Asp)	HFM1 (G772D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531202	NM_001017975.6(HFM1):c.217A>G (p.Asn73Asp)	HFM1 (N73D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523798	NM_001017975.6(HFM1):c.2944G>A (p.Val982Met)	HFM1 (V982M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518004	NM_001017975.6(HFM1):c.3212A>G (p.Asp1071Gly)	HFM1 (D1071G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498407	NM_001017975.6(HFM1):c.3470G>A (p.Cys1157Tyr)	HFM1 (C1157Y)	Single nucleotide variant (missense variant +1 more)	Premature ovarian failure 9 +1 more	GConflicting classifications of pathogenicity
Select item 2491038	NM_001017975.6(HFM1):c.304G>A (p.Asp102Asn)	HFM1 (D102N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483769	NM_001017975.6(HFM1):c.3368C>G (p.Ser1123Cys)	HFM1 (S1123C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482275	NM_001017975.6(HFM1):c.487C>T (p.Arg163Trp)	HFM1 (R163W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475570	NM_001017975.6(HFM1):c.3812G>T (p.Trp1271Leu)	HFM1 (W1271L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473231	NM_001017975.6(HFM1):c.2966A>G (p.Glu989Gly)	HFM1 (E989G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471149	NM_001017975.6(HFM1):c.3687A>G (p.Ile1229Met)	HFM1 (I1229M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2440702	NM_001017975.6(HFM1):c.1159-3_1159-2del	HFM1	Deletion (splice acceptor variant)	Premature ovarian failure 9	GLikely pathogenic
Select item 2406252	NM_001017975.6(HFM1):c.4114A>C (p.Asn1372His)	HFM1 (N1372H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393819	NM_001017975.6(HFM1):c.3292A>C (p.Lys1098Gln)	HFM1 (K1098Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384270	NM_001017975.6(HFM1):c.3044A>C (p.Glu1015Ala)	HFM1 (E1015A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381289	NM_001017975.6(HFM1):c.3296G>A (p.Arg1099Lys)	HFM1 (R1099K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370161	NM_001017975.6(HFM1):c.2642C>A (p.Thr881Asn)	HFM1 (T881N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368461	NM_001017975.6(HFM1):c.2564G>A (p.Arg855Lys)	HFM1 (R855K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360513	NM_001017975.6(HFM1):c.4298G>A (p.Gly1433Asp)	HFM1 (G1433D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355600	NM_001017975.6(HFM1):c.2449A>G (p.Lys817Glu)	HFM1 (K817E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351219	NM_001017975.6(HFM1):c.617A>G (p.Tyr206Cys)	HFM1 (Y206C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349498	NM_001017975.6(HFM1):c.2078A>G (p.His693Arg)	HFM1 (H693R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341304	NM_001017975.6(HFM1):c.3122T>C (p.Val1041Ala)	HFM1 (V1041A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332216	NM_001017975.6(HFM1):c.2630T>C (p.Leu877Ser)	HFM1 (L877S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331067	NM_001017975.6(HFM1):c.1300A>G (p.Thr434Ala)	HFM1 (T434A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328946	NM_001017975.6(HFM1):c.553G>A (p.Asp185Asn)	HFM1 (D185N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326967	NM_001017975.6(HFM1):c.2298A>C (p.Leu766Phe)	HFM1 (L766F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321569	NM_001017975.6(HFM1):c.2159G>A (p.Arg720Gln)	HFM1 (R720Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321332	NM_001017975.6(HFM1):c.2614A>G (p.Ile872Val)	HFM1 (I872V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313549	NM_001017975.6(HFM1):c.3822T>A (p.Phe1274Leu)	HFM1 (F1274L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300585	NM_001017975.6(HFM1):c.757G>A (p.Val253Ile)	HFM1 (V253I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283035	NM_001017975.6(HFM1):c.3389A>C (p.Lys1130Thr)	HFM1 (K1130T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277912	NM_001017975.6(HFM1):c.740C>T (p.Pro247Leu)	HFM1 (P247L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277809	NM_001017975.6(HFM1):c.889A>G (p.Arg297Gly)	HFM1 (R297G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275890	NM_001017975.6(HFM1):c.3630T>G (p.Phe1210Leu)	HFM1 (F1210L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270807	NM_001017975.6(HFM1):c.3788A>C (p.Asn1263Thr)	HFM1 (N1263T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269992	NM_001017975.6(HFM1):c.2956C>T (p.Pro986Ser)	HFM1 (P986S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264610	NM_001017975.6(HFM1):c.4163A>G (p.Asn1388Ser)	HFM1 (N1388S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263019	NM_001017975.6(HFM1):c.1772A>G (p.Glu591Gly)	HFM1 (E591G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262024	NM_001017975.6(HFM1):c.4113A>C (p.Gln1371His)	HFM1 (Q1371H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241040	NM_001017975.6(HFM1):c.2654T>G (p.Phe885Cys)	HFM1 (F885C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236538	NM_001017975.6(HFM1):c.1436G>C (p.Cys479Ser)	HFM1 (C479S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228009	NM_001017975.6(HFM1):c.3106G>A (p.Ala1036Thr)	HFM1 (A1036T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224890	NM_001017975.6(HFM1):c.515A>G (p.Asn172Ser)	HFM1 (N172S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2216101	NM_001017975.6(HFM1):c.2999A>G (p.Asp1000Gly)	HFM1 (D1000G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212799	NM_001017975.6(HFM1):c.1262G>A (p.Arg421His)	HFM1 (R421H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210702	NM_001017975.6(HFM1):c.1037G>A (p.Arg346His)	HFM1 (R346H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207320	NM_001017975.6(HFM1):c.3164G>A (p.Gly1055Glu)	HFM1 (G1055E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 1332988	NM_001017975.6(HFM1):c.3490C>T (p.Gln1164Ter)	HFM1 (Q1164*)	Single nucleotide variant (nonsense +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1332987	NM_001017975.6(HFM1):c.2487_2491del (p.Lys829fs)	HFM1 (K829fs)	Microsatellite (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1332986	NM_001017975.6(HFM1):c.4126del (p.Glu1376fs)	HFM1 (E1376fs)	Deletion (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1332985	NM_001017975.6(HFM1):c.2562_2563del (p.Glu856fs)	HFM1 (E856fs)	Deletion (frameshift variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1332898	NM_001017975.6(HFM1):c.[2487_2491del;3490C>T]	HFM1 (K829fs +1 more)	Microsatellite (frameshift variant +2 more)	Spermatogenic failure 4	GPathogenic
Select item 1332897	NM_001017975.6(HFM1):c.[2562_2563del;4126del]	HFM1 (E856fs +1 more)	Deletion (frameshift variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1332896	NM_001017975.6(HFM1):c.1472T>C (p.Leu491Pro)	HFM1 (L491P)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1332895	NM_001017975.6(HFM1):c.1355G>A (p.Arg452Gln)	HFM1 (R452Q)	Single nucleotide variant (missense variant +1 more)	Spermatogenic failure 4	GPathogenic
Select item 1328943	NM_001017975.6(HFM1):c.3588+1G>A	HFM1	Single nucleotide variant (splice donor variant)	Azoospermia	GPathogenic
Select item 1277748	NM_001017975.6(HFM1):c.343T>C (p.Ser115Pro)	HFM1 (S115P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1256009	NM_001017975.6(HFM1):c.1880T>C (p.Val627Ala)	HFM1 (V627A)	Single nucleotide variant (missense variant +1 more)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1256008	NM_001017975.6(HFM1):c.1978-2A>C	HFM1	Single nucleotide variant (splice acceptor variant)	Genetic non-acquired premature ovarian failure	GPathogenic

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