"Ambry Genetics"[submitter] AND "HR"[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3106920	NM_005144.5(HR):c.3563C>A (p.Ala1188Asp)	HR (A1133D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1314724	NM_005144.5(HR):c.3407T>C (p.Val1136Ala)	HR (V1081A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3106919	NM_005144.5(HR):c.3349G>C (p.Val1117Leu)	HR (V1117L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 362478	NM_005144.5(HR):c.3296G>T (p.Arg1099Leu)	HR (R1099L)	Single nucleotide variant (missense variant +1 more)	Atrichia with papular lesions +2 more	GUncertain significance
Select item 2243099	NM_005144.5(HR):c.3290G>A (p.Arg1097His)	HR (R1097H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2964030	NM_005144.5(HR):c.3287G>A (p.Arg1096Gln)	HR (R1096Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 362479	NM_005144.5(HR):c.3250G>A (p.Ala1084Thr)	HR (A1084T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 3106918	NM_005144.5(HR):c.3229G>T (p.Ala1077Ser)	HR (A1077S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352990	NM_005144.5(HR):c.3173G>A (p.Arg1058Gln)	HR (R1058Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106917	NM_005144.5(HR):c.3110G>C (p.Gly1037Ala)	HR (G1037A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106916	NM_005144.5(HR):c.3109G>C (p.Gly1037Arg)	HR (G1037R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106915	NM_005144.5(HR):c.3099C>A (p.Asp1033Glu)	HR (D1033E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284767	NM_005144.5(HR):c.3086G>A (p.Arg1029Gln)	HR (R1029Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353148	NM_005144.5(HR):c.3076G>A (p.Ala1026Thr)	HR (A1026T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403595	NM_005144.5(HR):c.3068C>G (p.Pro1023Arg)	HR (P1023R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489381	NM_005144.5(HR):c.3046A>C (p.Ile1016Leu)	HR (I1016L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379669	NM_005144.5(HR):c.2986C>A (p.Pro996Thr)	HR (P996T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106914	NM_005144.5(HR):c.2972C>G (p.Ala991Gly)	HR (A991G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106913	NM_005144.5(HR):c.2920T>A (p.Tyr974Asn)	HR (Y974N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106912	NM_005144.5(HR):c.2890G>A (p.Ala964Thr)	HR (A964T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616571	NM_005144.5(HR):c.2777T>G (p.Leu926Arg)	HR (L926R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544076	NM_005144.5(HR):c.2708C>A (p.Pro903His)	HR (P903H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050138	NM_005144.5(HR):c.2698G>A (p.Ala900Thr)	HR (A900T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2064553	NM_005144.5(HR):c.2663C>G (p.Thr888Arg)	HR (T888R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2538769	NM_005144.5(HR):c.2620G>T (p.Val874Leu)	HR (V874L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106911	NM_005144.5(HR):c.2569C>T (p.Arg857Cys)	HR (R857C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 362491	NM_005144.5(HR):c.2566C>G (p.Arg856Gly)	HR (R856G)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +2 more	GUncertain significance
Select item 362490	NM_005144.5(HR):c.2566C>T (p.Arg856Trp)	HR (R856W)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2603804	NM_005144.5(HR):c.2531C>A (p.Ala844Asp)	HR (A844D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106910	NM_005144.5(HR):c.2525C>A (p.Pro842Gln)	HR (P842Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376333	NM_005144.5(HR):c.2524C>G (p.Pro842Ala)	HR (P842A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398992	NM_005144.5(HR):c.2512C>T (p.Arg838Trp)	HR (R838W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 362493	NM_005144.5(HR):c.2507G>T (p.Arg836Leu)	HR (R836L)	Single nucleotide variant (missense variant)	Alopecia universalis congenita +3 more	GConflicting classifications of pathogenicity
Select item 3106909	NM_005144.5(HR):c.2500C>T (p.Pro834Ser)	HR (P834S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466749	NM_005144.5(HR):c.2371G>A (p.Asp791Asn)	HR (D791N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612637	NM_005144.5(HR):c.2249G>T (p.Arg750Leu)	HR (R750L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1476752	NM_005144.5(HR):c.2249G>A (p.Arg750Gln)	HR (R750Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3106908	NM_005144.5(HR):c.2218G>A (p.Ala740Thr)	HR (A740T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2608827	NM_005144.5(HR):c.2158C>A (p.Pro720Thr)	HR (P720T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470424	NM_005144.5(HR):c.2141C>T (p.Thr714Met)	HR (T714M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2522848	NM_005144.5(HR):c.2089C>T (p.Arg697Trp)	HR (R697W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507908	NM_005144.5(HR):c.2044G>A (p.Val682Ile)	HR (V682I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346743	NM_005144.5(HR):c.2034C>A (p.His678Gln)	HR (H678Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491120	NM_005144.5(HR):c.1966G>C (p.Ala656Pro)	HR (A656P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106907	NM_005144.5(HR):c.1963G>A (p.Ala655Thr)	HR (A655T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106906	NM_005144.5(HR):c.1934C>T (p.Ala645Val)	HR (A645V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207498	NM_005144.5(HR):c.1933G>A (p.Ala645Thr)	HR (A645T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3284762	NM_005144.5(HR):c.1909A>G (p.Lys637Glu)	HR (K637E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545890	NM_005144.5(HR):c.1805G>A (p.Arg602His)	HR (R602H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316388	NM_005144.5(HR):c.1804C>T (p.Arg602Cys)	HR (R602C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622967	NM_005144.5(HR):c.1772A>C (p.Glu591Ala)	HR (E591A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312292	NM_005144.5(HR):c.1721G>A (p.Arg574Gln)	HR (R574Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284763	NM_005144.5(HR):c.1702C>T (p.Arg568Cys)	HR (R568C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064555	NM_005144.5(HR):c.1694G>A (p.Arg565Gln)	HR (R565Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3284766	NM_005144.5(HR):c.1672C>A (p.Leu558Met)	HR (L558M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1968285	NM_005144.5(HR):c.1663G>A (p.Ala555Thr)	HR (A555T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2617486	NM_005144.5(HR):c.1646G>A (p.Arg549Gln)	HR (R549Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259935	NM_005144.5(HR):c.1633G>T (p.Gly545Cys)	HR (G545C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276730	NM_005144.5(HR):c.1588G>A (p.Glu530Lys)	HR (E530K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3284764	NM_005144.5(HR):c.1549G>C (p.Val517Leu)	HR (V517L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340976	NM_005144.5(HR):c.1519G>C (p.Gly507Arg)	HR (G507R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2267727	NM_005144.5(HR):c.1388A>G (p.Gln463Arg)	HR (Q463R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
Select item 3106905	NM_005144.5(HR):c.1334G>T (p.Gly445Val)	HR (G445V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313892	NM_005144.5(HR):c.1330G>A (p.Gly444Arg)	HR (G444R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 2360840	NM_005144.5(HR):c.1259A>G (p.Gln420Arg)	HR (Q420R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205730	NM_005144.5(HR):c.1210C>A (p.Pro404Thr)	HR (P404T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106904	NM_005144.5(HR):c.1157G>A (p.Arg386Gln)	HR (R386Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106903	NM_005144.5(HR):c.1154C>T (p.Thr385Ile)	HR (T385I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106902	NM_005144.5(HR):c.1096T>C (p.Ser366Pro)	HR (S366P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2456785	NM_005144.5(HR):c.1015G>T (p.Gly339Cys)	HR (G339C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3106925	NM_005144.5(HR):c.971G>A (p.Arg324Gln)	HR (R324Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106924	NM_005144.5(HR):c.899G>T (p.Gly300Val)	HR (G300V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408948	NM_005144.5(HR):c.847C>T (p.Pro283Ser)	HR (P283S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612280	NM_005144.5(HR):c.845G>C (p.Cys282Ser)	HR (C282S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106923	NM_005144.5(HR):c.833C>T (p.Ser278Phe)	HR (S278F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539254	NM_005144.5(HR):c.749A>G (p.Gln250Arg)	HR (Q250R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485022	NM_005144.5(HR):c.655G>A (p.Glu219Lys)	HR (E219K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106921	NM_005144.5(HR):c.569G>A (p.Gly190Glu)	HR (G190E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259065	NM_005144.5(HR):c.538C>A (p.Pro180Thr)	HR (P180T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278451	NM_005144.5(HR):c.419C>G (p.Pro140Arg)	HR (P140R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329354	NM_005144.5(HR):c.416G>A (p.Arg139Gln)	HR (R139Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284765	NM_005144.5(HR):c.409G>C (p.Ala137Pro)	HR (A137P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303270	NM_005144.5(HR):c.274G>A (p.Gly92Ser)	HR (G92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524193	NM_005144.5(HR):c.262G>T (p.Val88Phe)	HR (V88F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341931	NM_005144.5(HR):c.191G>T (p.Gly64Val)	HR (G64V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2518673	NM_005144.5(HR):c.119C>A (p.Pro40Gln)	HR (P40Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481782	NM_005144.5(HR):c.118C>T (p.Pro40Ser)	HR (P40S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106901	NM_005144.5(HR):c.100G>A (p.Asp34Asn)	HR (D34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224053	NM_005144.5(HR):c.98G>A (p.Arg33Gln)	HR (R33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3106922	NM_005144.5(HR):c.64G>A (p.Gly22Ser)	HR (G22S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234198	NM_005144.5(HR):c.29G>C (p.Gly10Ala)	HR (G10A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 95