ClinVar for Gene (Select 55806) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3284766	NM_005144.5(HR):c.1672C>A (p.Leu558Met)	HR (L558M)	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 3284764	NM_005144.5(HR):c.1549G>C (p.Val517Leu)	HR (V517L)	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 3284762	NM_005144.5(HR):c.1909A>G (p.Lys637Glu)	HR (K637E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3106923	NM_005144.5(HR):c.833C>T (p.Ser278Phe)	HR (S278F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3106921	NM_005144.5(HR):c.569G>A (p.Gly190Glu)	HR (G190E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 3106911	NM_005144.5(HR):c.2569C>T (p.Arg857Cys)	HR (R857C)	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 3106909	NM_005144.5(HR):c.2500C>T (p.Pro834Ser)	HR (P834S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3106905	NM_005144.5(HR):c.1334G>T (p.Gly445Val)	HR (G445V)	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 3106901	NM_005144.5(HR):c.100G>A (p.Asp34Asn)	HR (D34N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065311	NM_005144.5(HR):c.3199C>T (p.Arg1067Cys)	HR (R1067C)	Single nucleotide variant (missense variant)	Atrichia with papular lesions	GUncertain significance
Select item 3064835	NM_005144.5(HR):c.1915+1G>A	HR	Single nucleotide variant (splice donor variant)	Atrichia with papular lesions	GLikely pathogenic
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3050469	NM_005144.5(HR):c.1605C>T (p.Asn535=)	HR	Single nucleotide variant (synonymous variant)	HR-related disorder	GLikely benign
Select item 3047800	NM_005144.5(HR):c.549G>A (p.Pro183=)	HR	Single nucleotide variant (synonymous variant)	HR-related disorder	GLikely benign
Select item 3043200	NM_005144.5(HR):c.1462C>T (p.Leu488=)	HR	Single nucleotide variant (synonymous variant)	HR-related disorder	GLikely benign
Select item 3035329	NM_005144.5(HR):c.2508G>T (p.Arg836=)	HR	Single nucleotide variant (synonymous variant)	HR-related disorder	GLikely benign
Select item 3034243	NM_005144.5(HR):c.119C>T (p.Pro40Leu)	HR (P40L)	Single nucleotide variant (missense variant)	HR-related disorder	GBenign
Select item 3029889	NM_005144.5(HR):c.2122-10G>A	HR	Single nucleotide variant (intron variant)	HR-related disorder	GLikely benign
Select item 3021931	NM_005144.5(HR):c.3378+12C>A	HR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010919	NM_005144.5(HR):c.3352C>T (p.Leu1118=)	HR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008023	NM_005144.5(HR):c.558G>C (p.Trp186Cys)	HR (W186C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003820	NM_005144.5(HR):c.174C>T (p.Asp58=)	HR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995488	NM_005144.5(HR):c.3462C>T (p.His1154=)	HR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985552	NM_005144.5(HR):c.162G>A (p.Leu54=)	HR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982749	NM_005144.5(HR):c.1947G>A (p.Thr649=)	HR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977778	NM_005144.5(HR):c.193T>C (p.Phe65Leu)	HR (F65L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972291	NM_005144.5(HR):c.3098-13C>A	HR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968245	NM_005144.5(HR):c.3283C>T (p.Arg1095Trp)	HR (R1095W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2964030	NM_005144.5(HR):c.3287G>A (p.Arg1096Gln)	HR (R1096Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2960894	NM_005144.5(HR):c.3213+15G>C	HR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2914368	NM_005144.5(HR):c.1916-7C>G	HR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2904948	NM_005144.5(HR):c.1296G>A (p.Pro432=)	HR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899123	NM_005144.5(HR):c.1553G>A (p.Arg518Gln)	HR (R518Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892537	NM_005144.5(HR):c.2006-6C>T	HR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880215	NM_005144.5(HR):c.2389C>T (p.Leu797=)	HR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839702	NM_005144.5(HR):c.2900G>C (p.Gly967Ala)	HR (G967A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802890	NM_005144.5(HR):c.2891C>T (p.Ala964Val)	HR (A964V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792440	NM_005144.5(HR):c.1254G>A (p.Glu418=)	HR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755530	NM_005144.5(HR):c.3287_3291dup (p.Leu1098fs)	HR (L1098fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2744186	NM_005144.5(HR):c.2060G>A (p.Arg687Gln)	HR (R687Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743341	NM_005144.5(HR):c.3338C>A (p.Pro1113His)	HR (P1113H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2726865	NM_005144.5(HR):c.2278G>A (p.Glu760Lys)	HR (E760K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719031	NM_005144.5(HR):c.1566G>T (p.Leu522=)	HR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2716292	NM_005144.5(HR):c.1932C>T (p.Ser644=)	HR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2716210	NM_005144.5(HR):c.2059C>T (p.Arg687Trp)	HR (R687W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713293	NM_005144.5(HR):c.2779C>T (p.Arg927Cys)	HR (R927C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706145	NM_005144.5(HR):c.1168C>G (p.Gln390Glu)	HR (Q390E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696995	NM_001394132.1(HRURF):c.74C>T (p.Pro25Leu)	HR, HRURF (P25L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2671605	Single allele	BIN3, BMP1 +24 more	Duplication	not provided	GUncertain significance
Select item 2663730	NM_005144.5(HR):c.926C>A (p.Pro309Gln)	HR (P309Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658464	NM_005144.5(HR):c.2846+8T>C	HR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2633428	NM_005144.5(HR):c.1595_1596del (p.Thr532fs)	HR (T532fs)	Microsatellite (frameshift variant)	HR-related disorder	GLikely pathogenic
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 2617486	NM_005144.5(HR):c.1646G>A (p.Arg549Gln)	HR (R549Q)	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 2612637	NM_005144.5(HR):c.2249G>T (p.Arg750Leu)	HR (R750L)	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 2608827	NM_005144.5(HR):c.2158C>A (p.Pro720Thr)	HR (P720T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
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 2544076	NM_005144.5(HR):c.2708C>A (p.Pro903His)	HR (P903H)	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 2538769	NM_005144.5(HR):c.2620G>T (p.Val874Leu)	HR (V874L)	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 2522848	NM_005144.5(HR):c.2089C>T (p.Arg697Trp)	HR (R697W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2507908	NM_005144.5(HR):c.2044G>A (p.Val682Ile)	HR (V682I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic

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