EHBP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 154940	GRCh38/hg38 2p16.1-15(chr2:58031916-63611810)x1	B3GNT2, BCL11A +177 more	Copy number loss	See cases	GPathogenic
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 60148	GRCh38/hg38 2p16.1-14(chr2:58873039-64190332)x1	B3GNT2, BCL11A +187 more	Copy number loss	See cases	GPathogenic
Select item 149946	GRCh38/hg38 2p15(chr2:62006650-62779065)x3	B3GNT2, COMMD1 +43 more	Copy number gain	See cases	GLikely benign
Select item 152565	GRCh38/hg38 2p15(chr2:62031155-62779065)x3	B3GNT2, COMMD1 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2553490	NM_001142616.3(EHBP1):c.82A>G (p.Met28Val)	EHBP1 (M28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319671	NM_001142616.3(EHBP1):c.83T>C (p.Met28Thr)	EHBP1 (M28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779224	NM_001142616.3(EHBP1):c.105-4G>C	EHBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2614675	NM_001142616.3(EHBP1):c.127G>A (p.Val43Ile)	EHBP1 (V43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385384	NM_001142616.3(EHBP1):c.233T>C (p.Ile78Thr)	EHBP1 (I78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492493	NM_001142616.3(EHBP1):c.266A>G (p.His89Arg)	EHBP1 (H89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087714	NM_001142616.3(EHBP1):c.296C>T (p.Thr99Ile)	EHBP1 (T99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240966	NM_001142616.3(EHBP1):c.307G>C (p.Glu103Gln)	EHBP1 (E103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524660	NM_001142616.3(EHBP1):c.340C>G (p.Leu114Val)	EHBP1 (L114V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310966	NM_001142616.3(EHBP1):c.346A>T (p.Thr116Ser)	EHBP1 (T116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616600	NM_001142616.3(EHBP1):c.440C>G (p.Ser147Cys)	EHBP1 (S147C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406608	NM_001142616.3(EHBP1):c.445G>A (p.Ala149Thr)	EHBP1 (A149T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3056277	NM_001142616.3(EHBP1):c.567C>T (p.Phe189=)	EHBP1	Single nucleotide variant (synonymous variant)	EHBP1-related disorder	GLikely benign
Select item 3042677	NM_001142616.3(EHBP1):c.582A>G (p.Glu194=)	EHBP1	Single nucleotide variant (synonymous variant)	EHBP1-related disorder	GBenign
Select item 1048947	NM_001142616.3(EHBP1):c.585TGA[2] (p.Asp197del)	EHBP1 (D197del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2265019	NM_001142616.3(EHBP1):c.585T>A (p.Asp195Glu)	EHBP1 (D195E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474352	NM_001142616.3(EHBP1):c.594G>C (p.Glu198Asp)	EHBP1 (E198D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308897	NM_001142616.3(EHBP1):c.596A>G (p.Asn199Ser)	EHBP1 (N199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224981	NM_001142616.3(EHBP1):c.597C>G (p.Asn199Lys)	EHBP1 (N199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087718	NM_001142616.3(EHBP1):c.635-688G>A	EHBP1 (R237H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087719	NM_001142616.3(EHBP1):c.674A>G (p.Lys225Arg)	EHBP1 (K225R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597512	NM_001142616.3(EHBP1):c.674A>C (p.Lys225Thr)	EHBP1 (K225T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274852	NM_001142616.3(EHBP1):c.697A>T (p.Asn233Tyr)	EHBP1 (N233Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547461	NM_001142616.3(EHBP1):c.710A>G (p.Asp237Gly)	EHBP1 (D272G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526116	NM_001142616.3(EHBP1):c.760C>T (p.Pro254Ser)	EHBP1 (P254S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087720	NM_001142616.3(EHBP1):c.806A>G (p.Tyr269Cys)	EHBP1 (Y304C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087721	NM_001142616.3(EHBP1):c.809A>G (p.Asn270Ser)	EHBP1 (N270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276313	NM_001142616.3(EHBP1):c.816C>A (p.Ser272Arg)	EHBP1 (S272R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557247	NM_001142616.3(EHBP1):c.851A>G (p.Tyr284Cys)	EHBP1 (Y319C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058680	NM_001142616.3(EHBP1):c.855G>A (p.Leu285=)	EHBP1	Single nucleotide variant (synonymous variant)	EHBP1-related disorder	GLikely benign
Select item 2594854	NM_001142616.3(EHBP1):c.880T>C (p.Phe294Leu)	EHBP1 (F329L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309965	NM_001142616.3(EHBP1):c.937G>A (p.Val313Met)	EHBP1 (V348M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274857	NM_001142616.3(EHBP1):c.953A>G (p.Tyr318Cys)	EHBP1 (Y353C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344066	NM_001142616.3(EHBP1):c.1100C>T (p.Pro367Leu)	EHBP1 (P402L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1364	NM_001142616.3(EHBP1):c.1185+30064G>A	EHBP1	Single nucleotide variant (intron variant)	Prostate cancer, hereditary, 12	GPathogenic
Select item 3087699	NM_001142616.3(EHBP1):c.1211T>G (p.Leu404Trp)	EHBP1 (L404W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409842	NM_001142616.3(EHBP1):c.1217G>A (p.Arg406Gln)	EHBP1 (R406Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274858	NM_001142616.3(EHBP1):c.1287A>C (p.Lys429Asn)	EHBP1 (K429N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087700	NM_001142616.3(EHBP1):c.1420G>A (p.Asp474Asn)	EHBP1 (D509N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547587	NM_001142616.3(EHBP1):c.1451T>C (p.Leu484Ser)	EHBP1 (L484S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343668	NM_001142616.3(EHBP1):c.1558G>A (p.Val520Ile)	EHBP1 (V555I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385403	NM_001142616.3(EHBP1):c.1597G>C (p.Val533Leu)	EHBP1 (V533L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274951	NM_001142616.3(EHBP1):c.1660A>G (p.Ser554Gly)	EHBP1 (S554G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650990	NM_001142616.3(EHBP1):c.1664A>T (p.Asp555Val)	EHBP1 (D555V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2389655	NM_001142616.3(EHBP1):c.1672C>T (p.Arg558Trp)	EHBP1 (R558W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1801771	NM_001142616.3(EHBP1):c.1699A>T (p.Ser567Cys)	EHBP1 (S567C +1 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	GUncertain significance
Select item 3087702	NM_001142616.3(EHBP1):c.1705G>A (p.Ala569Thr)	EHBP1 (A604T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274855	NM_001142616.3(EHBP1):c.1752C>A (p.Ser584Arg)	EHBP1 (S584R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530357	NM_001142616.3(EHBP1):c.1762G>A (p.Glu588Lys)	EHBP1 (E623K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087703	NM_001142616.3(EHBP1):c.1778A>G (p.His593Arg)	EHBP1 (H593R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2489702	NM_001142616.3(EHBP1):c.1826G>A (p.Cys609Tyr)	EHBP1 (C644Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396255	NM_001142616.3(EHBP1):c.1901C>G (p.Pro634Arg)	EHBP1 (P634R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339157	NM_001142616.3(EHBP1):c.1906A>G (p.Ile636Val)	EHBP1 (I671V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087704	NM_001142616.3(EHBP1):c.1922A>T (p.Asp641Val)	EHBP1 (D641V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087705	NM_001142616.3(EHBP1):c.1924T>A (p.Ser642Thr)	EHBP1 (S642T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650991	NM_001142616.3(EHBP1):c.1971T>A (p.Ala657=)	EHBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2608733	NM_001142616.3(EHBP1):c.2002A>C (p.Ser668Arg)	EHBP1 (S703R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326377	NM_001142616.3(EHBP1):c.2008A>G (p.Lys670Glu)	EHBP1 (K705E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618755	NM_001142616.3(EHBP1):c.2080G>A (p.Gly694Ser)	EHBP1 (G694S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3060967	NM_001142616.3(EHBP1):c.2158A>C (p.Lys720Gln)	EHBP1 (K720Q +1 more)	Single nucleotide variant (missense variant +1 more)	EHBP1-related disorder	GBenign
Select item 3087706	NM_001142616.3(EHBP1):c.2164A>G (p.Ser722Gly)	EHBP1 (S722G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034212	NM_001142616.3(EHBP1):c.2198A>G (p.Tyr733Cys)	EHBP1 (Y733C +1 more)	Single nucleotide variant (missense variant +1 more)	EHBP1-related disorder	GLikely benign
Select item 3087707	NM_001142616.3(EHBP1):c.2201G>A (p.Ser734Asn)	EHBP1 (S734N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297792	NM_001142616.3(EHBP1):c.2201G>C (p.Ser734Thr)	EHBP1 (S734T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292036	NM_001142616.3(EHBP1):c.2229A>T (p.Lys743Asn)	EHBP1 (K778N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087708	NM_001142616.3(EHBP1):c.2270A>G (p.Asp757Gly)	EHBP1 (D757G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279493	NM_001142616.3(EHBP1):c.2273G>A (p.Arg758Lys)	EHBP1 (R758K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314604	NM_001142616.3(EHBP1):c.2321G>A (p.Arg774Gln)	EHBP1 (R492Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087709	NM_001142616.3(EHBP1):c.2372A>G (p.Glu791Gly)	EHBP1 (E826G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087710	NM_001142616.3(EHBP1):c.2385A>T (p.Arg795Ser)	EHBP1 (R548S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473790	NM_001142616.3(EHBP1):c.2393C>T (p.Ala798Val)	EHBP1 (A551V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302441	NM_001142616.3(EHBP1):c.2410A>G (p.Lys804Glu)	EHBP1 (K522E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389120	NM_001142616.3(EHBP1):c.2417A>G (p.Asn806Ser)	EHBP1 (N524S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263131	NM_001142616.3(EHBP1):c.2423A>G (p.Asn808Ser)	EHBP1 (N526S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232860	NM_001142616.3(EHBP1):c.2444A>C (p.Asn815Thr)	EHBP1 (N568T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274856	NM_001142616.3(EHBP1):c.2453T>A (p.Leu818Gln)	EHBP1 (L571Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087711	NM_001142616.3(EHBP1):c.2599G>A (p.Ala867Thr)	EHBP1 (A902T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087712	NM_001142616.3(EHBP1):c.2600C>T (p.Ala867Val)	EHBP1 (A620V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552617	NM_001142616.3(EHBP1):c.2609-2750G>A	EHBP1 (E882K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543088	NM_001142616.3(EHBP1):c.2620A>C (p.Lys874Gln)	EHBP1 (K874Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274860	NM_001142616.3(EHBP1):c.2637G>T (p.Lys879Asn)	EHBP1 (K949N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087713	NM_001142616.3(EHBP1):c.2687G>A (p.Ser896Asn)	EHBP1 (S932N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038064	NM_001142616.3(EHBP1):c.2734-4T>C	EHBP1	Single nucleotide variant (intron variant)	EHBP1-related disorder	GLikely benign
Select item 3053880	NM_001142616.3(EHBP1):c.2749C>G (p.Leu917Val)	EHBP1 (L635V +7 more)	Single nucleotide variant (missense variant)	EHBP1-related disorder	GLikely benign
Select item 2608096	NM_001142616.3(EHBP1):c.2750T>C (p.Leu917Pro)	EHBP1 (L952P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274853	NM_001142616.3(EHBP1):c.2783G>A (p.Arg928His)	EHBP1 (R963H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592279	NM_001142616.3(EHBP1):c.2852A>C (p.Gln951Pro)	EHBP1 (Q1022P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274854	NM_001142616.3(EHBP1):c.2869C>A (p.Pro957Thr)	EHBP1 (P1027T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382296	NM_001142616.3(EHBP1):c.2963A>C (p.Glu988Ala)	EHBP1 (E1024A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274104	NM_001142616.3(EHBP1):c.2987T>G (p.Phe996Cys)	EHBP1 (F1031C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650992	NM_001142616.3(EHBP1):c.3063C>G (p.Ala1021=)	EHBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087715	NM_001142616.3(EHBP1):c.3150G>A (p.Met1050Ile)	EHBP1 (M1086I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563742	NM_001142616.3(EHBP1):c.3271A>G (p.Ile1091Val)	EHBP1 (I1091V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234667	NM_001142616.3(EHBP1):c.3276A>C (p.Glu1092Asp)	EHBP1 (E1091D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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