ClinVar for MedGen (Select 349262) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700712	NM_005144.5(HR):c.212A>T (p.Asp71Val)	HR (D71V)	Single nucleotide variant (missense variant)	Alopecia universalis congenita	GUncertain significance
Select item 1687272	NM_005144.5(HR):c.2541G>A (p.Trp847Ter)	HR (W847*)	Single nucleotide variant (nonsense)	Alopecia universalis congenita	GPathogenic
Select item 1269342	NM_005144.5(HR):c.3379-29G>T	HR	Single nucleotide variant (intron variant)	Alopecia universalis congenita +2 more	GBenign
Select item 912298	NM_005144.5(HR):c.84C>T (p.Pro28=)	HR	Single nucleotide variant (synonymous variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 912233	NM_005144.5(HR):c.974G>A (p.Gly325Asp)	HR (G325D)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +2 more	GConflicting classifications of pathogenicity
Select item 912163	NM_005144.5(HR):c.1469T>G (p.Leu490Arg)	HR (L490R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 912162	NM_005144.5(HR):c.1492C>G (p.Gln498Glu)	HR (Q498E)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 912098	NM_005144.5(HR):c.1662C>T (p.Leu554=)	HR	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 912097	NM_005144.5(HR):c.1727C>T (p.Ala576Val)	HR (A576V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 912096	NM_005144.5(HR):c.1745G>A (p.Arg582Gln)	HR (R582Q)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911931	NM_005144.5(HR):c.3216G>A (p.Val1072=)	HR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 911930	NM_005144.5(HR):c.3221C>T (p.Pro1074Leu)	HR (P1074L)	Single nucleotide variant (missense variant +1 more)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 911929	NM_005144.5(HR):c.3228G>A (p.Gly1076=)	HR	Single nucleotide variant (synonymous variant +1 more)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911928	NM_005144.5(HR):c.3249C>A (p.Gly1083=)	HR	Single nucleotide variant (synonymous variant +1 more)	Atrichia with papular lesions +2 more	GLikely benign
Select item 911889	NM_005144.5(HR):c.*76G>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911827	NM_005144.5(HR):c.*746C>G	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911826	NM_005144.5(HR):c.*756G>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GBenign
Select item 911787	NM_005144.5(HR):c.*1270T>C	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911345	NM_005144.5(HR):c.-599C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911136	NM_005144.5(HR):c.-572G>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911135	NM_005144.5(HR):c.-469C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 911061	NM_005144.5(HR):c.136C>G (p.Pro46Ala)	HR (P46A)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GUncertain significance
Select item 911060	NM_005144.5(HR):c.234C>T (p.Gly78=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 911002	NM_005144.5(HR):c.1077C>T (p.Ser359=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 910941	NM_005144.5(HR):c.1552C>T (p.Arg518Trp)	HR (R518W)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +2 more	GUncertain significance
Select item 910874	NM_005144.5(HR):c.1766T>C (p.Val589Ala)	HR (V589A)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 910873	NM_005144.5(HR):c.1772A>G (p.Glu591Gly)	HR (E591G)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +2 more	GConflicting classifications of pathogenicity
Select item 910872	NM_005144.5(HR):c.1853G>A (p.Ser618Asn)	HR (S618N)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 910824	NM_005144.5(HR):c.2347G>T (p.Val783Phe)	HR (V783F)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 910823	NM_005144.5(HR):c.2354C>T (p.Pro785Leu)	HR (P785L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 910822	NM_005144.5(HR):c.2355G>A (p.Pro785=)	HR	Single nucleotide variant (synonymous variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 910768	NM_005144.5(HR):c.2776+4A>G	HR	Single nucleotide variant (intron variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 910767	NM_005144.5(HR):c.2828G>A (p.Gly943Glu)	HR (G943E)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 910709	NM_005144.5(HR):c.3253C>G (p.Pro1085Ala)	HR (P1085A)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 910708	NM_005144.5(HR):c.3309C>T (p.Gly1103=)	HR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 910600	NM_005144.5(HR):c.*885C>T	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 910247	NM_005144.5(HR):c.-380C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 910179	NM_005144.5(HR):c.293G>A (p.Arg98His)	HR (R98H)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 910178	NM_005144.5(HR):c.301G>A (p.Glu101Lys)	HR (E101K)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GLikely benign
Select item 910113	NM_005144.5(HR):c.1359G>A (p.Ser453=)	HR	Single nucleotide variant (synonymous variant)	Atrichia with papular lesions +2 more	GBenign
Select item 910044	NM_005144.5(HR):c.1557-10C>T	HR	Single nucleotide variant (intron variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 910043	NM_005144.5(HR):c.1571G>A (p.Gly524Glu)	HR (G524E)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 910042	NM_005144.5(HR):c.1575G>A (p.Glu525=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +2 more	GUncertain significance
Select item 909986	NM_005144.5(HR):c.1934C>A (p.Ala645Glu)	HR (A645E)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 909985	NM_005144.5(HR):c.1956C>T (p.Ala652=)	HR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 909922	NM_005144.5(HR):c.2412G>C (p.Val804=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 909872	NM_005144.5(HR):c.2953G>A (p.Glu985Lys)	HR (E985K)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 909871	NM_005144.5(HR):c.2993G>A (p.Arg998Gln)	HR (R998Q)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GUncertain significance
Select item 909807	NM_005144.5(HR):c.3406G>A (p.Val1136Ile)	HR (V1081I +1 more)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 909737	NM_005144.5(HR):c.*295G>A	HR	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 909736	NM_005144.5(HR):c.*420C>T	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 909672	NM_005144.5(HR):c.*904C>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 909671	NM_005144.5(HR):c.*1020C>A	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 909670	NM_005144.5(HR):c.*1054C>T	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 909139	NM_005144.5(HR):c.2104G>A (p.Gly702Arg)	HR (G702R)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +2 more	GUncertain significance
Select item 909069	NM_005144.5(HR):c.2522C>T (p.Pro841Leu)	HR (P841L)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 908946	NM_005144.5(HR):c.3507+12G>A	HR	Single nucleotide variant (intron variant)	Atrichia with papular lesions +2 more	GBenign/Likely benign
Select item 908945	NM_005144.5(HR):c.*75G>A	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GLikely benign
Select item 908877	NM_005144.5(HR):c.*579C>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908876	NM_005144.5(HR):c.*599T>G	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GBenign
Select item 908875	NM_005144.5(HR):c.*617G>C	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908820	NM_005144.5(HR):c.*1125C>T	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908819	NM_005144.5(HR):c.*1145C>T	HR	Single nucleotide variant (3 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 908818	NM_005144.5(HR):c.*1253T>C	HR	Single nucleotide variant (3 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908293	NM_005144.5(HR):c.-106G>A	HRURF, HR	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 908292	NM_005144.5(HR):c.-40-14T>C	HR	Single nucleotide variant (intron variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908230	NM_005144.5(HR):c.550C>A (p.His184Asn)	HR (H184N)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908229	NM_005144.5(HR):c.639T>A (p.Ile213=)	HR	Single nucleotide variant (synonymous variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908228	NM_005144.5(HR):c.877G>A (p.Val293Ile)	HR (V293I)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908155	NM_005144.5(HR):c.1380C>T (p.Asp460=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +2 more	GBenign
Select item 908154	NM_005144.5(HR):c.1440G>A (p.Pro480=)	HR	Single nucleotide variant (synonymous variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908091	NM_005144.5(HR):c.1584G>A (p.Gln528=)	HR	Single nucleotide variant (synonymous variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 908090	NM_005144.5(HR):c.1618G>A (p.Glu540Lys)	HR (E540K)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 773760	NM_005144.5(HR):c.333C>T (p.Cys111=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +2 more	GBenign/Likely benign
Select item 770746	NM_005144.5(HR):c.205C>T (p.Pro69Ser)	HR (P69S)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GBenign/Likely benign
Select item 731608	NM_005144.5(HR):c.1527G>A (p.Gly509=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +2 more	GConflicting classifications of pathogenicity
Select item 623309	NM_005144.5(HR):c.2776+1G>A	HR	Single nucleotide variant (splice donor variant)	Alopecia universalis congenita	GPathogenic
Select item 362543	NM_005144.5(HR):c.-621T>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362542	NM_005144.5(HR):c.-615T>G	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +2 more	GBenign
Select item 362540	NM_005144.5(HR):c.-443G>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362539	NM_005144.5(HR):c.-439A>G	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362538	NM_005144.5(HR):c.-411C>T	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362537	NM_005144.5(HR):c.-333T>C	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Atrichia with papular lesions +2 more	GBenign
Select item 362536	NM_005144.5(HR):c.-326G>A	HR, HRURF	Single nucleotide variant (5 prime UTR variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362535	NM_005144.5(HR):c.-136C>T	HR, HRURF	Single nucleotide variant (3 prime UTR variant +1 more)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362534	NM_005144.5(HR):c.27G>A (p.Lys9=)	HR	Single nucleotide variant (synonymous variant)	Atrichia with papular lesions +2 more	GBenign
Select item 362533	NM_005144.5(HR):c.37A>G (p.Thr13Ala)	HR (T13A)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GBenign/Likely benign
Select item 362532	NM_005144.5(HR):c.85G>A (p.Gly29Ser)	HR (G29S)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GUncertain significance
Select item 362531	NM_005144.5(HR):c.120G>A (p.Pro40=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +1 more	GUncertain significance
Select item 362530	NM_005144.5(HR):c.184C>A (p.Pro62Thr)	HR (P62T)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GUncertain significance
Select item 362529	NM_005144.5(HR):c.188C>G (p.Pro63Arg)	HR (P63R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 362528	NM_005144.5(HR):c.415C>T (p.Arg139Trp)	HR (R139W)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +1 more	GUncertain significance
Select item 362527	NM_005144.5(HR):c.956C>T (p.Pro319Leu)	HR (P319L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 362526	NM_005144.5(HR):c.970C>T (p.Arg324Trp)	HR (R324W)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +2 more	GConflicting classifications of pathogenicity
Select item 362525	NM_005144.5(HR):c.1010G>A (p.Gly337Asp)	HR (G337D)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GBenign
Select item 362524	NM_005144.5(HR):c.1055C>T (p.Ala352Val)	HR (A352V)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +2 more	GBenign
Select item 362523	NM_005144.5(HR):c.1190G>A (p.Cys397Tyr)	HR (C397Y)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +2 more	GBenign
Select item 362522	NM_005144.5(HR):c.1276C>T (p.Pro426Ser)	HR (P426S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 362521	NM_005144.5(HR):c.1305T>C (p.Phe435=)	HR	Single nucleotide variant (synonymous variant)	Alopecia universalis congenita +2 more	GBenign
Select item 362520	NM_005144.5(HR):c.1346T>G (p.Val449Gly)	HR (V449G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

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